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Bannayan-Riley-Ruvalcaba syndrome
2019-02-20T18:51:08Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{SI}}<br />
{{CMG}}; {{AE}} {{VKG}}<ref name="pmid12119278">{{cite journal |vauthors=Eng C |title=Role of PTEN, a lipid phosphatase upstream effector of protein kinase B, in epithelial thyroid carcinogenesis |journal=Ann. N. Y. Acad. Sci. |volume=968 |issue= |pages=213–21 |date=June 2002 |pmid=12119278 |doi= |url=}}</ref><br />
<br />
{{SK}} BRRS, Ruvalcaba-Myhre syndrome, Ruvalcaba-Myhre-Smith syndrome, Riley-Smith syndrome, Bannayan syndrome, or Bannayan-Zonana syndrome<br />
<br />
==Overview==<br />
{| align="right"<br />
|<br />
[[File:Bannayan-Riley-Ruvalcaba syndrome.png|thumb|'''Bannayan-Riley-Ruvalcaba syndrome''' <ref>{{Cite web|url=https://commons.wikimedia.org/wiki/File:Autosomal_dominant_-_en.svg#/media/File:Autosomal_dominant_-_en.svg|title=Autosomal dominant pattern in BRRS|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]] <br />
|}<br />
(BRRS)/Bannayan-Zonana syndrome is a rare [[hamartomatous]] disorder with occurrence of multiple [[subcutaneous]] [[lipoma]]s, [[macrocephaly]] and [[hemangioma]]s. Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in [[autosomal dominant]] pattern. [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) was first discovered by Ruvalcaba, in 1980. It is understood that [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is caused by genetic [[mutations]]. The symptoms of BRRS usually develop in the first decade of life. The [[prognosis]] is unknown for [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS). [[Bannayan-Riley-Ruvalcaba syndrome]] must be differentiated from [[CLOVES syndrome|CLOVE]] syndromes. The [[incidence]] of [[Bannayan-Riley-Ruvalcaba syndrome]] is approximately 1 per 200,000 individuals worldwide. Head [[Magnetic resonance imaging|MRI]] may be helpful in the [[diagnosis]] of [[Bannayan-Riley-Ruvalcaba syndrome]]. There is no treatment for [[Bannayan-Riley-Ruvalcaba syndrome]].<br />
<br />
==Historical Perspective==<br />
* [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) was first discovered by Ruvalcaba, in 1980.<ref name="pmid28401059">{{cite journal |vauthors=Lee SH, Ryoo E, Tchah H |title=Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report |journal=Pediatr Gastroenterol Hepatol Nutr |volume=20 |issue=1 |pages=65–70 |date=March 2017 |pmid=28401059 |pmc=5385310 |doi=10.5223/pghn.2017.20.1.65 |url=}}</ref><br />
* [[Bannayan-Riley-Ruvalcaba syndrome]] was also mentioned with different names previously by different doctors thinking that they were describing a new condition and the names are as follows: <br />
** Ruvalcaba-Myhre syndrome<br />
** Riley-Smith syndrome <br />
** Bannayan-Zonana syndrome<br />
<br />
* The overlap of symptoms between [[Cowden syndrome]] and Bannayan-Ruvalcaba-Riley syndrome was made in 1996.<ref name="pmid175268002">{{cite journal |vauthors=Lachlan KL, Lucassen AM, Bunyan D, Temple IK |title=Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers |journal=J. Med. Genet. |volume=44 |issue=9 |pages=579–85 |date=September 2007 |pmid=17526800 |pmc=2597943 |doi=10.1136/jmg.2007.049981 |url=}}</ref><br />
<br />
==Classification==<br />
* There is no established system for the [[classification]] of [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) .<br />
<br />
==Pathophysiology==<br />
* Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in [[autosomal dominant]] pattern, but sporadic cases have been reported.<br />
* The disease belongs to a family of [[hamartomatous]] [[polyposis]] [[syndromes]], which also includes [[Peutz-Jeghers syndrome]], [[juvenile polyposis]] and [[Cowden syndrome]].<br />
* It is understood that [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is the result caused by the following gene [[mutations]]:<ref name="pmid10923032">{{cite journal |vauthors=Bonneau D, Longy M |title=Mutations of the human PTEN gene |journal=Hum. Mutat. |volume=16 |issue=2 |pages=109–22 |date=2000 |pmid=10923032 |doi=10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0 |url=}}</ref><ref name="pmid21659347">{{cite journal |vauthors=Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW |title=Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features |journal=J. Med. Genet. |volume=48 |issue=8 |pages=505–12 |date=August 2011 |pmid=21659347 |doi=10.1136/jmg.2011.088807 |url=}}</ref><ref name="pmid17526800">{{cite journal |vauthors=Lachlan KL, Lucassen AM, Bunyan D, Temple IK |title=Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers |journal=J. Med. Genet. |volume=44 |issue=9 |pages=579–85 |date=September 2007 |pmid=17526800 |pmc=2597943 |doi=10.1136/jmg.2007.049981 |url=}}</ref><br />
** [[Germline]] [[phosphatase]] and <br />
** Tensin homolog (''[[PTEN (gene)|PTEN]]'') [[mutations]].<br />
* Patients who have [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS), have a positive association with ''[[PTEN (gene)|PTEN]]'' [[mutations]] in 55 to 60 % of cases.<ref name="pmid10400993">{{cite journal |vauthors=Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C |title=PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome |journal=Hum. Mol. Genet. |volume=8 |issue=8 |pages=1461–72 |date=August 1999 |pmid=10400993 |doi= |url=}}</ref><br />
* [[PTEN (gene)|PTEN]] track backs to 10q23 which encodes and plays a significant role in the following:<ref name="BhargavaAu Yong2013">{{cite journal|last1=Bhargava|first1=R.|last2=Au Yong|first2=K. J.|last3=Leonard|first3=N.|title=Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients|journal=American Journal of Neuroradiology|volume=35|issue=2|year=2013|pages=402–406|issn=0195-6108|doi=10.3174/ajnr.A3680}}</ref><ref name="pmid12938083">{{cite journal |vauthors=Eng C |title=PTEN: one gene, many syndromes |journal=Hum. Mutat. |volume=22 |issue=3 |pages=183–98 |date=September 2003 |pmid=12938083 |doi=10.1002/humu.10257 |url=}}</ref><br />
** [[Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase|Phosphatidylinositol 3,4,5-triphosphate]], a [[phospholipid]] in the [[phosphatidylinositol]] 3-[[kinase]] pathway/Akt pathway<br />
** Effects [[G1]] [[cell cycle]] arrest and [[apoptosis]]<br />
** [[Cellular]] [[proliferation]] and<br />
** Migration<br />
<br />
==Causes==<br />
{| align="right"<br />
|<br />
[[File:PTEN Gene.jpg|alt=PTEN Gene|thumb|'''PTEN Gene'''<ref>{{Cite web|url=Public Domain, https://commons.wikimedia.org/w/index.php?curid=2234618|title=PTEn gene|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref> ]]<br />
|}<br />
'''Genetic Cause'''<br />
* [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is caused by a [[mutation]] in the [[phosphatase]] and tensin [[homolog]] (''[[PTEN (gene)|PTEN]])'' [[gene]].<ref name="pmid12844284">{{cite journal |vauthors=Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C |title=Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway |journal=Am. J. Hum. Genet. |volume=73 |issue=2 |pages=404–11 |date=August 2003 |pmid=12844284 |pmc=1180378 |doi=10.1086/377109 |url=}}</ref><ref name="pmid18781191">{{cite journal |vauthors=Blumenthal GM, Dennis PA |title=PTEN hamartoma tumor syndromes |journal=Eur. J. Hum. Genet. |volume=16 |issue=11 |pages=1289–300 |date=November 2008 |pmid=18781191 |doi=10.1038/ejhg.2008.162 |url=}}</ref><ref name="PoropatMaschio2015">{{cite journal|last1=Poropat|first1=Federico|last2=Maschio|first2=Massimo|last3=Martelossi|first3=Stefano|last4=Ventura|first4=Alessandro|last5=Taddio|first5=Andrea|title=Bannayan-Riley-Ruvalcaba Syndrome|journal=Journal of Pediatric Gastroenterology and Nutrition|volume=60|issue=6|year=2015|pages=e48|issn=0277-2116|doi=10.1097/MPG.0b013e31829ef86f}}</ref><ref name="pmid145741564">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref><ref name="pmid129380834">{{cite journal |vauthors=Eng C |title=PTEN: one gene, many syndromes |journal=Hum. Mutat. |volume=22 |issue=3 |pages=183–98 |date=September 2003 |pmid=12938083 |doi=10.1002/humu.10257 |url=}}</ref><ref name="pmid12372056">{{cite journal |vauthors=Figer A, Kaplan A, Frydman M, Lev D, Paswell J, Papa MZ, Goldman B, Friedman E |title=Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer |journal=Clin. Genet. |volume=62 |issue=4 |pages=298–302 |date=October 2002 |pmid=12372056 |doi= |url=}}</ref><br />
* Different types of [[mutations]] occurs in ''[[PTEN (gene)|PTEN]]'' [[gene]] and are as follows'':''<br />
** [[Germline]] intragenic [[mutations]] in ''[[PTEN (gene)|PTEN]]'' [[gene]]<br />
** Gross [[gene]] [[Deletion|deletions]] in ''[[PTEN (gene)|PTEN]]'' [[gene]]<br />
** [[Mutations]] in the ''[[PTEN (gene)|PTEN]]'' gene [[Promoter region|promoter]] region results in [[heterozygous]] [[Germline mutation|germline mutations]]<br />
** [[Deletion (genetics)|Deletion]] in [[exons]] 1-5 of ''[[PTEN (gene)|PTEN]]'' [[gene]]<br />
<br />
==Differentiating {{PAGENAME}} from Other Diseases==<br />
* [[Bannayan-Riley-Ruvalcaba syndrome]] must be differentiated from [[CLOVES syndrome|CLOVE]] syndrome which include the following:<ref name="pmid19011570">{{cite journal |vauthors=Alomari AI |title=Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome |journal=Clin. Dysmorphol. |volume=18 |issue=1 |pages=1–7 |date=January 2009 |pmid=19011570 |doi=10.1097/MCD.0b013e328317a716 |url=}}</ref><ref name="pmid17963221">{{cite journal |vauthors=Sapp JC, Turner JT, van de Kamp JM, van Dijk FS, Lowry RB, Biesecker LG |title=Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients |journal=Am. J. Med. Genet. A |volume=143A |issue=24 |pages=2944–58 |date=December 2007 |pmid=17963221 |doi=10.1002/ajmg.a.32023 |url=}}</ref><ref name="pmid28571234">{{cite journal |vauthors=Acosta S, Torres V, Paulos M, Cifuentes I |title=CLOVES Syndrome: Severe Neonatal Presentation |journal=J Clin Diagn Res |volume=11 |issue=4 |pages=TR01–TR03 |date=April 2017 |pmid=28571234 |pmc=5449880 |doi=10.7860/JCDR/2017/23801.9719 |url=}}</ref><ref name="pmid29231959">{{cite journal |vauthors=Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung BHY, Warman ML |title=Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum |journal=Clin. Genet. |volume=93 |issue=5 |pages=1075–1080 |date=May 2018 |pmid=29231959 |doi=10.1111/cge.13195 |url=}}</ref><br />
** [[Congenital]] [[Lipoma|lipomatous]] overgrowth<br />
** [[Vascular malformations]] <br />
** [[Epidermal]] [[nevi]] and<br />
** [[Cowden syndrome]]<br />
** [[Proteus syndrome]]<br />
** Lhermitte-Duclos syndrome<br />
** [[Birt-Hogg-Dubé syndrome|Birt-Hogg-Dube syndrome]]<br />
<br />
==Epidemiology and Demographics==<br />
<br />
=== Incidence ===<br />
* The [[incidence]] of [[Bannayan-Riley-Ruvalcaba syndrome]] is approximately 1 per 200,000 individuals worldwide.<ref name="pmid26157835">{{cite journal |vauthors=Sagi SV, Ballard DD, Marks RA, Dunn KR, Kahi CJ |title=Bannayan Ruvalcaba Riley Syndrome |journal=ACG Case Rep J |volume=1 |issue=2 |pages=90–2 |date=January 2014 |pmid=26157835 |doi=10.14309/crj.2014.11 |url=}}</ref><ref name="pmid15667510">{{cite journal |vauthors=Schreibman IR, Baker M, Amos C, McGarrity TJ |title=The hamartomatous polyposis syndromes: a clinical and molecular review |journal=Am. J. Gastroenterol. |volume=100 |issue=2 |pages=476–90 |date=February 2005 |pmid=15667510 |doi=10.1111/j.1572-0241.2005.40237.x |url=}}</ref><br />
<br />
=== Prevalence ===<br />
* The [[prevalence]] of ''[[PTEN (gene)|PTEN]]'' mutations [[Bannayan-Riley-Ruvalcaba syndrome]] is approximately 65%.<br />
<br />
=== '''Age''' ===<br />
* [[Bannayan-Riley-Ruvalcaba syndrome]] commonly affects individuals of younger age.<ref name="pmid19321504">{{cite journal |vauthors=Lynch NE, Lynch SA, McMenamin J, Webb D |title=Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay |journal=Arch. Dis. Child. |volume=94 |issue=7 |pages=553–4 |date=July 2009 |pmid=19321504 |doi=10.1136/adc.2008.155663 |url=}}</ref><ref name="pmid25549896">{{cite journal |vauthors=Busa T, Milh M, Degardin N, Girard N, Sigaudy S, Longy M, Olshchwang S, Sobol H, Chabrol B, Philip N |title=Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome |journal=Eur. J. Paediatr. Neurol. |volume=19 |issue=2 |pages=188–92 |date=March 2015 |pmid=25549896 |doi=10.1016/j.ejpn.2014.11.012 |url=}}</ref><br />
* The [[median]] [[age]] for [[Bannayan-Riley-Ruvalcaba syndrome]] [[diagnosis]] is as young as five years.<br />
<br />
* <br />
<br />
==Risk Factors==<br />
* Apart from mutations in [[PTEN (gene)|PTEN gene]] there are no established risk factors for [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS).<br />
<br />
==Screening==<br />
* There is insufficient evidence to recommend routine [[Screening (medicine)|screening]] for [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS).<br />
<br />
==Natural History, Complications, and Prognosis==<br />
'''Natural History'''<br />
* The symptoms of BRRS usually develop in the first decade of life, and start with symptoms such as [[developmental delay]], [[macrocephaly]] and [[Penis|penile]] lentigines.<br />
'''Complications'''<br />
* Common [[complications]] of [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) include:<ref name="pmid20301661">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref><ref name="pmid211904482">{{cite journal |vauthors=Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V |title=Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity |journal=Thyroid |volume=21 |issue=2 |pages=135–44 |date=February 2011 |pmid=21190448 |doi=10.1089/thy.2010.0226 |url=}}</ref><ref name="pmid20962022">{{cite journal |vauthors=Smith JR, Marqusee E, Webb S, Nose V, Fishman SJ, Shamberger RC, Frates MC, Huang SA |title=Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=1 |pages=34–7 |date=January 2011 |pmid=20962022 |doi=10.1210/jcem.96.3.zeg34a |url=}}</ref><ref name="pmid15067177">{{cite journal |vauthors=Zambrano E, Holm I, Glickman J, Huang S, Perez-Atayde A, Kozakewich HP, Shamberger RC, Nosé V |title=Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes |journal=Endocr. Pathol. |volume=15 |issue=1 |pages=55–64 |date=2004 |pmid=15067177 |doi= |url=}}</ref><ref name="pmid26700035">{{cite journal |vauthors=Ngeow J, Sesock K, Eng C |title=Breast cancer risk and clinical implications for germline PTEN mutation carriers |journal=Breast Cancer Res. Treat. |volume=165 |issue=1 |pages=1–8 |date=August 2017 |pmid=26700035 |doi=10.1007/s10549-015-3665-z |url=}}</ref><ref name="pmid26185318">{{cite journal |vauthors=Cameselle-Teijeiro J, Fachal C, Cabezas-Agrícola JM, Alfonsín-Barreiro N, Abdulkader I, Vega-Gliemmo A, Hermo JA |title=Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome |journal=Am. J. Clin. Pathol. |volume=144 |issue=2 |pages=322–8 |date=August 2015 |pmid=26185318 |doi=10.1309/AJCP84INGJUVTBME |url=}}</ref><ref name="pmid145741565">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref><br />
** Increased risk of following [[cancers]]:<br />
*** [[Thyroid cancer]]: Mostly commonly [[Follicular carcinoma of the Thyroid|follicular]], very rarely [[Papillary thyroid cancer|papillary]], but never [[medullary thyroid cancer]]<br />
*** [[Breast cancer]]<br />
*** [[Renal cell cancer]] <br />
*** [[Granulosa cell tumour|Granulosa cell tumor]] of the [[ovary]]<br />
'''Prognosis'''<br />
* The [[prognosis]] is unknown for [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS).<br />
<br />
==Diagnosis==<br />
===Diagnostic Criteria===<br />
* The [[diagnostic criteria]] of [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is based on the [[Cowden syndrome]]/PHTS criteria, which include:<br />
'''Pilarski et al diagnostic criteria''':<br />
* Pilarski et al [[diagnostic criteria]] is proposed by [[National Comprehensive Cancer Network]] (NCCN) which include<ref name="pmid203016612">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref><br />
* [[Diagnosis]] require<br />
** Any two major positive [[criteria]] [[symptoms]] or<br />
** One major and two minor positive [[criteria]] [[symptoms]] or<br />
** Three minor positive [[criteria]] [[symptoms]] <br />
{| class="wikitable"<br />
!<br />
'''Major criteria'''<ref name="pmid203016613">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref><br />
!'''Minor criteria'''<ref name="pmid203016614">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref><br />
|-<br />
|<br />
* [[Macrocephaly]] ([[occipital]] frontal circumference ≥97th percentile) <br />
* [[Breast cancer]] <br />
* [[Thyroid cancer]] <br />
* [[Endometrial carcinoma]] <br />
* [[Gastrointestinal]] [[hamartomas]] <br />
* [[Penis|Penile]] [[pigmentation]] <br />
|<br />
* [[Autism spectrum disorder|Autism spectrum disorders]]<br />
** [[Intellectual disability]] (IQ ≤75)<br />
* [[Colon cancer]] <br />
* [[Fibroma|Fibromas]] <br />
* [[Uterine]] [[fibroids]] <br />
* [[Genitourinary]] [[tumors]] <br />
* [[Genitourinary]] [[malformation]] <br />
* [[Glycogenic acanthosis]] of the [[esophagus]] <br />
* [[Testicular]] [[lipomatosis]]<br />
|}<br />
===History and Symptoms===<br />
<br />
===Physical Examination===<br />
{| align="right"<br />
|<br />
[[File:Lipomas in BRRS.gif|alt=Lipomas in BRRS|thumb|'''Lipomas in BRRS''' Case courtesy Gabriela Maria Abreu Gontijo et al <ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900354/|title=Lipomas in Bannayan-Riley-Ruvalcaba syndrome|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref> |center|211x211px]]<br />
|<br />
[[File:Macrocephaly.gif|alt=Macrocephaly in BRRS|center|thumb|300x300px|'''[[Macrocephaly]] in BRRS''' Case courtesy Valentina Peiretti et al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890226/|title=Macrocephaly in BRRS|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref> ]]<br />
|-<br />
|<br />
[[File:Thyroid in BRRS.gif|alt=Thyroid in BRRS|center|thumb|[[Thyroid]] involvement in BRRS Case courtesy Valentina Peiretti et al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890226/|title=Thyroid|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]<br />
|<br />
[[File:Penile lentigines in BRRS .jpg|alt=Speckled penis|center|thumb|'''Speckled penis in BRRS''' Case courtesy of Corrado Romano et al<<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3353286/|title=Speckled penis in a patient affected by Bannayan-Riley-Ruvalcaba syndrome|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]<br />
|}<br />
'''Skin'''<br />
* [[Lipomas]]<ref name="pmid145741563">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref><br />
<br />
'''HEENT'''<br />
* [[Macrocephaly|Macrocephaly:]] Very prominent and important feature of [[Bannayan-Riley-Ruvalcaba syndrome]] <ref name="pmid9661881">{{cite journal |vauthors=Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR |title=Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome |journal=Cancer Res. |volume=58 |issue=13 |pages=2724–6 |date=July 1998 |pmid=9661881 |doi= |url=}}</ref><ref name="pmid129380833">{{cite journal |vauthors=Eng C |title=PTEN: one gene, many syndromes |journal=Hum. Mutat. |volume=22 |issue=3 |pages=183–98 |date=September 2003 |pmid=12938083 |doi=10.1002/humu.10257 |url=}}</ref><ref name="pmid145741562">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref><br />
** [[Macrocephaly|Macrocephaly]] ([[occipital]] frontal circumference ≥97th percentile)<br />
** The [[macrocephaly]] of BRRS is symmetrical, and does not cause widening of the [[ventricles]] or raised [[ICP]] ([[intracerebral pressure]]).<br />
* High [[palate]] <br />
* Downslanting [[palpebral fissures]] of the eyes<br />
* [[Strabismus]]<br />
* [[Amblyopia]]<br />
'''Neck'''<br />
* [[Thyromegaly]]-[[Hashimoto thyroiditis]]<ref name="pmid21190448">{{cite journal |vauthors=Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nosé V |title=Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity |journal=Thyroid |volume=21 |issue=2 |pages=135–44 |date=February 2011 |pmid=21190448 |doi=10.1089/thy.2010.0226 |url=}}</ref><br />
<br />
'''Abdomen'''<br />
* [[Hamartomatous]] [[polyps]] in [[gastrointestinal tract]]<ref name="pmid96618812">{{cite journal |vauthors=Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR |title=Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome |journal=Cancer Res. |volume=58 |issue=13 |pages=2724–6 |date=July 1998 |pmid=9661881 |doi= |url=}}</ref><br />
* Intestinal [[juvenile polyposis]]<ref name="pmid15264272">{{cite journal |vauthors=Merg A, Howe JR |title=Genetic conditions associated with intestinal juvenile polyps |journal=Am J Med Genet C Semin Med Genet |volume=129C |issue=1 |pages=44–55 |date=August 2004 |pmid=15264272 |doi=10.1002/ajmg.c.30020 |url=}}</ref><br />
'''Genitourinary'''<br />
* [[Penis|Penile]] [[Lentiginosis|lentigines]] or speckled [[penis]]: Hallmark of [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS)<ref name="pmid129380832">{{cite journal |vauthors=Eng C |title=PTEN: one gene, many syndromes |journal=Hum. Mutat. |volume=22 |issue=3 |pages=183–98 |date=September 2003 |pmid=12938083 |doi=10.1002/humu.10257 |url=}}</ref><br />
** [[Pigmentation]] spots of the [[male genitalia]]<br />
* [[Fistulae]]<br />
'''Neuromuscular'''<br />
* [[Developmental]] delay: Could be mild to severe<ref name="pmid96618813">{{cite journal |vauthors=Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR |title=Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome |journal=Cancer Res. |volume=58 |issue=13 |pages=2724–6 |date=July 1998 |pmid=9661881 |doi= |url=}}</ref><ref name="pmid14574156">{{cite journal |vauthors=Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH |title=Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases |journal=Fam. Cancer |volume=2 |issue=2 |pages=79–85 |date=2003 |pmid=14574156 |doi= |url=}}</ref> <br />
* [[PTEN (gene)|PTEN]] [[hamartoma]] of [[soft tissue]] <br />
* Joint [[hypermobility]]<br />
* [[Arteriovenous shunts]] <br />
<br />
===Laboratory Findings===<br />
'''Mutation testing'''<ref name="pmid216593472">{{cite journal |vauthors=Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW |title=Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features |journal=J. Med. Genet. |volume=48 |issue=8 |pages=505–12 |date=August 2011 |pmid=21659347 |doi=10.1136/jmg.2011.088807 |url=}}</ref><ref name="pmid24136893">{{cite journal |vauthors=Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E |title=Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria |journal=J. Natl. Cancer Inst. |volume=105 |issue=21 |pages=1607–16 |date=November 2013 |pmid=24136893 |doi=10.1093/jnci/djt277 |url=}}</ref><br />
* ''[[PTEN (gene)|PTEN]]'' [[Mutations|mutation]] testing by following:<br />
** Sequence analysis of [[coding region]]<br />
** Deletion/duplication analysis<br />
** Sequence analysis of [[promoter region]]<br />
<br />
===Imaging Findings===<br />
* Head [[Magnetic resonance imaging|MRI]] may be helpful in the diagnosis of [[Bannayan-Riley-Ruvalcaba syndrome]]. Findings on [[MRI]] suggestive of [[Bannayan-Riley-Ruvalcaba syndrome]] include:<ref name="BhargavaAu Yong20132">{{cite journal|last1=Bhargava|first1=R.|last2=Au Yong|first2=K. J.|last3=Leonard|first3=N.|title=Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients|journal=American Journal of Neuroradiology|volume=35|issue=2|year=2013|pages=402–406|issn=0195-6108|doi=10.3174/ajnr.A3680}}</ref><ref name="pmid23907246">{{cite journal |vauthors=Bhargava R, Au Yong KJ, Leonard N |title=Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients |journal=AJNR Am J Neuroradiol |volume=35 |issue=2 |pages=402–6 |date=February 2014 |pmid=23907246 |doi=10.3174/ajnr.A3680 |url=}}</ref><br />
** [[White matter]] [[cysts]] in the [[parietal lobe]], [[frontal lobe]], and [[temporal lobe]] <br />
** T2 hyperintensities associated with [[macrocephaly]]<br />
<br />
===Other Diagnostic Studies===<br />
* There are no other diagnostic studies associated with [[Bannayan-Riley-Ruvalcaba syndrome]].<br />
<br />
==Treatment==<br />
===Medical Therapy===<br />
* There is no treatment for [[Bannayan-Riley-Ruvalcaba syndrome]]; the mainstay of therapy is treating the symptoms present in the individual like:<br />
'''Mucocutaneous Manifestations'''<br />
* [[Mucocutaneous]] manifestations can be treated with the help of:<ref name="pmid203016615">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref><br />
* Preferred regimen (1): 5-[[Fluorouracil]]<br />
* [[Curettage]]<br />
* [[Cryosurgery]]<br />
* [[Laser ablation]] <br />
<br />
===Surgery===<br />
* [[Surgery]] is not the mainstay of treatment for [[Bannayan-Riley-Ruvalcaba syndrome]].<br />
<br />
===Prevention===<br />
* There are no established measures for the primary or secondary prevention of [[Bannayan-Riley-Ruvalcaba syndrome]].<br />
<br />
==References==<br />
{{Reflist|2}}</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Wilms%27_tumor_differentiating_from_other_disease&diff=1546975
Wilms' tumor differentiating from other disease
2019-02-07T15:09:34Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{| class="infobox bordered" style="width: 15em; text-align: center; font-size: 90%; background:AliceBlue"<br />
|-<br />
| colspan="1" style="text-align:center; background:DarkGray" |<br />
|- bgcolor="LightSkyBlue"<br />
! align="center" style="color: #FFFFFF;" + |<big><big><br />
[[Wilms' tumor|Return to Homepage]]</big></big><br />
|- <br />
|}<br />
{{CMG}}; {{AE}} {{SSW}}<br />
<br />
==Overview==<br />
Wilms' tumor must be differentiated from [[neuroblastoma]], [[cystic nephroma]], and [[angiomyolipoma]].<br />
<br />
==Wilms' tumor differentiating from other disease==<br />
* [[Neuroblastoma]]<br />
* [[Cystic nephroma]]<br />
* [[Angiomyolipoma]]<br />
<br />
{| class="wikitable"<br />
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |S.No.<br />
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |Disease<br />
! colspan="3" style="background:#4479BA; color: #FFFFFF;" + |Symptoms<br />
! colspan="2" style="background:#4479BA; color: #FFFFFF;" + |Signs<br />
! colspan="3" style="background:#4479BA; color: #FFFFFF;" + |Diagnosis<br />
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |Comments<br />
|-<br />
! style="background:#4479BA; color: #FFFFFF;" + |Abdominal Pain<br />
! style="background:#4479BA; color: #FFFFFF;" + |Hematuria<br />
! style="background:#4479BA; color: #FFFFFF;" + |Headache<br />
! style="background:#4479BA; color: #FFFFFF;" + |Abdominal mass<br />
! style="background:#4479BA; color: #FFFFFF;" + |Abdominal tenderness<br />
! style="background:#4479BA; color: #FFFFFF;" + |Ultrasonography<br />
! style="background:#4479BA; color: #FFFFFF;" + |CT scan<br />
! style="background:#4479BA; color: #FFFFFF;" + |Histology<br />
|-<br />
|1.<br />
|[[Wilms' tumor|Wilms tumor]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+ </nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<br />
*It is the best initial diagnostic study used in cases suspected with [[Wilms tumor]].<br />
*[[Ultrasonography]] can help identify the mass as a kidney mass.<br />
*It can distinguish [[tumor]] mass from other causes of renal swelling like [[hydronephrosis]].<ref name="pmid61529362">{{cite journal |vauthors=Hartman DS, Sanders RC |title=Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation |journal=J Ultrasound Med |volume=1 |issue=3 |pages=117–22 |date=April 1982 |pmid=6152936 |doi= |url=}}</ref><br />
*[[Doppler ultrasonography]] can help to detect invasion of [[renal vein]] and [[Inferior vena cava|IVC]] by the tumor.<ref name="pmid30036602">{{cite journal |vauthors=De Campo JF |title=Ultrasound of Wilms' tumor |journal=Pediatr Radiol |volume=16 |issue=1 |pages=21–4 |date=1986 |pmid=3003660 |doi= |url=}}</ref><br />
|<br />
*Findings on [[CT scan]] which can be suggestive of [[Wilms tumor]] include:<ref name="pmid4080660">{{cite journal |vauthors=Cahan LD |title=Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease |journal=Pediatr Neurosci |volume=12 |issue=1 |pages=58–62 |date=1985 |pmid=4080660 |doi= |url=}}</ref><br />
**Heterogeneous soft-tissue density masses<br />
**These masses have frequent areas of [[calcification]] (~10%) and fat-density regions<br />
**[[Lymph node]] metastasis<br />
*[[CT scan]] of the renal mass can further reveal:<br />
**Invasion of surrounding organs<br />
**[[Thrombus]] in or occlusion of the [[renal vein]] and/or the [[inferior vena cava]]<br />
**Abdominal lymph nodes and contralateral involvement<br />
|<br />
*Wilms tumor has a triphasic appearance.<br />
*It is comprised of 3 types of cells:<br />
**[[Stromal]]<br />
**[[Epithelium|Epithelial]]<br />
**[[Blastema|Blastemal]]<br />
*All the 3 types are not required for the diagnosis of Wilms tumor.<br />
*Primitive tubules and [[Glomerulus|glomeruli]] are often seen comprised of [[Cancer|neoplastic]] cells.<br />
*Beckwith and Palmer reported in NWTS the different histopathologic types of Wilms tumor to categorize them based on prognosis.<ref name="pmid1978">{{cite journal |vauthors=Jolly RD, Stellwagen E, Babul J, Vodkaĭlo LV, Titov VL, Moldomusaev DM, Maianskiĭ AN |title=Mannosidosis of Angus Cattle: a prototype control program for some genetic diseases |journal=Adv Vet Sci Comp Med |volume=19 |issue=23 |pages=1–21 |date=November 1975 |pmid=1978 |doi= |url=}}</ref><br />
<br />
*Spindled cell [[stroma]] surrounding abortive tubules and [[Glomerulus|glomeruli]] is characteristic.<br />
*The stroma may include:<br />
**Striated [[muscle]] [[cartilage]]<br />
**[[bone]]<br />
**[[Adipose tissue|Fat tissue]]<br />
**[[Fibrous connective tissue|Fibrous tissue.]]<br />
|<br />
|-<br />
|2.<br />
|[[Renal cell carcinoma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* [[Ultrasound]] (US) may be helpful when CT scan results are equivocal. It is noteworthy to mention that not all renal cell [[carcinomas]] are detectable on [[ultrasound]].<br />
|Both [[CT]] and [[MRI]] may be used to detect [[neoplastic]] masses that may define renal cell carcinoma or metastasis of the primary cancer. [[CT]] scan and use of intravenous (IV) contrast is generally used for work-up and follow-up of patients with [[Renal cell carcinoma|renal cell carcinom]]<nowiki/>a.<br />
|The histological pattern of renal cell [[carcinoma]] depends whether it is [[Papillary|papillary,]] [[chromophobe]] or [[collecting duct]] renal cell carcinoma.<br />
|<br />
|-<br />
|3.<br />
|[[Malignant rhabdoid tumor|Rhabdoid kidney disease]]<br />
| +<br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* [[Ultrasound]] shows a complex cystic mass. <br />
|<br />
* [[CT]] scan may be diagnostic of malignant rhabdoid tumor. Findings on [[CT]] scan suggestive of malignant rhabdoid tumor include a large, heterogenous, centrally located mass, which is lobulated with individual lobules separated by intervening areas of decreased attenuation, relating to either previous [[hemorrhage]] or [[necrosis]]. Enhancement is similarly heterogeneous. [[Calcification]] is relatively common, observed in 20-50% of cases and is typically linear and tends to outline tumor [[lobules]].<br />
|<br />
* [[Malignant]] rhabdoid tumor is characterized by the round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of [[eosinophilic]] cytoplasm with frequent mitotic figures.<br />
|<br />
|-<br />
|4.<br />
|[[Polycystic kidney disease]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>+ (from hypertension)</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
Ultrasound may be helpful in the diagnosis of polycystic kidney disease. Findings on an ultrasound diagnostic of polycystic kidney disease include:<ref name="pmid25786098">{{cite journal |vauthors=Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, Harris T, Horie S, Kasiske BL, Odland D, Pei Y, Perrone RD, Pirson Y, Schrier RW, Torra R, Torres VE, Watnick T, Wheeler DC |title=Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference |journal=Kidney Int. |volume=88 |issue=1 |pages=17–27 |date=July 2015 |pmid=25786098 |pmc=4913350 |doi=10.1038/ki.2015.59 |url=}}</ref><ref name="pmid18945943">{{cite journal |vauthors=Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D |title=Unified criteria for ultrasonographic diagnosis of ADPKD |journal=J. Am. Soc. Nephrol. |volume=20 |issue=1 |pages=205–12 |date=January 2009 |pmid=18945943 |pmc=2615723 |doi=10.1681/ASN.2008050507 |url=}}</ref><br />
*At least three unilateral or bilateral [[cysts]] in patients 15 - 39 years old<br />
*Atleast two [[cysts]] in each [[kidney]] in patients 40 - 59 years old<br />
*Atleast four [[cysts]] in each [[kidney]] in patients 60 years of age or older<br />
|<br />
[[Renal]] CT scan may be helpful in the diagnosis of polycystic kidney disease. Findings on CT scan diagnostic of ADPKD include:<br />
* Numerous [[renal]] [[cysts]] of varying size and shape with little intervening [[parenchyma]] with water [[attenuation]] and very thin wall.<br />
* Reduction in [[sinus]] [[fat]] due to expansion of the [[cortex]]<br />
* Occasional complex [[cysts]] with hyperdense appearance, with possible septations or calcifications<br />
* Multiple [[homogeneous]] and hypoattenuating [[cystic]] lesions in the [[liver]] in patients with [[liver]] involvement<br />
|<br />
*On microscopic histopathological analysis, interstitial fibrosis, tubular atrophy, thickening and lamellation of tubular basement membranes, microcysts and negative immunofluorescence for complement and immunoglobulin are characteristic findings of ADPKD.<ref name="pmid12234310">{{cite journal |vauthors=Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC |title=Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families |journal=Kidney Int. |volume=62 |issue=4 |pages=1385–94 |date=October 2002 |pmid=12234310 |doi=10.1111/j.1523-1755.2002.kid581.x |url=}}</ref><ref name="pmid24509297">{{cite journal |vauthors=Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS |title=Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1 |journal=Clin J Am Soc Nephrol |volume=9 |issue=3 |pages=527–35 |date=March 2014 |pmid=24509297 |pmc=3944763 |doi=10.2215/CJN.06380613 |url=}}</ref><ref name="pmid21775974">{{cite journal |vauthors=Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D |title=Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood |journal=Kidney Int. |volume=80 |issue=7 |pages=768–76 |date=October 2011 |pmid=21775974 |doi=10.1038/ki.2011.225 |url=}}</ref><ref name="pmid20378641">{{cite journal |vauthors=Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R |title=Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases |journal=Clin J Am Soc Nephrol |volume=5 |issue=6 |pages=1079–90 |date=June 2010 |pmid=20378641 |pmc=2879303 |doi=10.2215/CJN.06810909 |url=}}</ref><br />
<br />
|<br />
|-<br />
|5.<br />
|[[Pheochromocytoma]]<br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+ (as a part of the hypertension paroxysm)</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* CT is the preferred imaging modality for the diagnosis of pheochromocytoma.<br />
|The following findings may be observed on [[CT scan]]:<ref name="pmid1787652">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652 }}</ref><br />
*Most common extra-[[Adrenal gland|adrenal]] locations are superior and inferior [[abdominal]] [[Paraaortic lymph node|paraaortic]] areas, the [[urinary bladder]], [[thorax]], [[head]], [[neck]] and [[pelvis]].<ref name="pmid1729490">{{cite journal| author=Whalen RK, Althausen AF, Daniels GH| title=Extra-adrenal pheochromocytoma. | journal=J Urol | year= 1992 | volume= 147 | issue= 1 | pages= 1-10 | pmid=1729490 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1729490 }}</ref><br />
<br />
*In sporadic pheochromocytoma, [[CT]] and [[MRI]] are good choices. The choice depends on availability and cost.<ref name="pmid191248172">{{cite journal| author=Baid SK, Lai EW, Wesley RA, Ling A, Timmers HJ, Adams KT et al.| title=Brief communication: radiographic contrast infusion and catecholamine release in patients with pheochromocytoma. | journal=Ann Intern Med | year= 2009 | volume= 150 | issue= 1 | pages= 27-32 | pmid=19124817 | doi= | pmc=3490128 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19124817 }}</ref><br />
*In patients with the [[multiple endocrine neoplasia]] type 2 ([[Multiple endocrine neoplasia type 2|MEN2]]) syndrome, [[CT]] may miss the [[tumors]].<ref name="pmid17876522">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652 }}</ref><br />
|<br />
* On microscopic pathology, [[Pheochromocytoma]] typically demonstrates a nesting (Zellballen) pattern on microscopy. This pattern is composed of well-defined clusters of tumor cells containing [[eosinophilic]] cytoplasm separated by fibrovascular [[stroma]].<br />
|<br />
|-<br />
|6.<br />
|[[Burkitt's lymphoma|Burkitt lymphoma]]<br />
|<nowiki>+/- (in non-endemic or sporadic form of the disease)</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* Abdominal [[ultrasonography]] may show [[splenomegaly]] and [[ascites]].<br />
|<br />
* Chest, abdomen, and pelvis [[CT]] scan may be helpful in the diagnosis of [[Burkitt's lymphoma]] but it is not done routinely.<ref name="medlineplus">Burkitt lymphoma. MedlinePlus. https://www.nlm.nih.gov/medlineplus/ency/article/001308.htm Accessed on September 30, 2015</ref><br />
|<br />
*On microscopic histopathological analysis, characteristic findings of Burkitt's lymphoma include:<ref name="pmid12610094">{{cite journal |author=Bellan C, Lazzi S, De Falco G, Nyongo A, Giordano A, Leoncini L |title=Burkitt's lymphoma: new insights into molecular pathogenesis |journal=J. Clin. Pathol. |volume=56 |issue=3 |pages=188–92 |year=2003 |month=March |pmid=12610094 |pmc=1769902 |doi= |url=http://jcp.bmj.com/cgi/pmidlookup?view=long&pmid=12610094}}</ref><br />
:*Medium-sized (~1.5-2x the size of a RBC) with uniform size ("monotonous") -- '''key feature''' (i.e. tumor nuclei size similar to that of [[histiocytes]] or [[endothelial cells]])<br />
:*Round nucleus<br />
:*Small nucleoli<br />
:*Relatively abundant cytoplasm ([[basophilic]])<br />
:*Brisk mitotic rate and [[apoptotic]] activity<br />
:*Cellular outline usually appears squared off<br />
:*"Starry-sky pattern":<br />
::*The ''stars'' in the pattern are tingible-body macrophages (macrophages containing [[apoptotic]] tumor cells.<br />
::*The tumour cells are the ''sky''<br />
|<br />
|-<br />
|7.<br />
|[[Intussusception]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+/- </nowiki><br />
|<nowiki>+</nowiki><br />
|<br />
* [[Ultrasound]] is the [[Gold standard (test)|gold standard]] imaging modality used to diagnose intussusception<ref name="pmid17308922">{{cite journal |vauthors=Ko HS, Schenk JP, Tröger J, Rohrschneider WK |title=Current radiological management of intussusception in children |journal=Eur Radiol |volume=17 |issue=9 |pages=2411–21 |year=2007 |pmid=17308922 |doi=10.1007/s00330-007-0589-y |url=}}</ref><br />
**Target or doughnut sign<ref name="pmid8470658">{{cite journal |vauthors=Boyle MJ, Arkell LJ, Williams JT |title=Ultrasonic diagnosis of adult intussusception |journal=Am. J. Gastroenterol. |volume=88 |issue=4 |pages=617–8 |year=1993 |pmid=8470658 |doi= |url=}}</ref><br />
***Edematous intussuscipien forms an external ring around the centrally located intussusceptum<br />
***Target sign is usually seen in right lower quadrant<br />
**Layers of intussusception forms pseudo-kidney appearance on the transverse view<br />
|<br />
* [[Computed tomography|CT scan]] may be helpful in the [[diagnosis]] of intussusception. [[Computed tomography|CT scan]] maybe used when other image modalities like [[x-ray]] and [[ultrasound]] have not given positive results but suspicion of intussusception is high.<br />
|<br />
* Intussusception occurs if there is an imbalance between the longitudinal and radial [[smooth muscle]] forces of [[intestine]] that maintain its normal structure. This imbalance leads to a segment of [[intestine]] to invaginate into another segment and cause entero-enteral intussusception. [[Etiology]] of intussusception is either idiopathic or [[Pathology|pathologic]] (lead point). <br />
|<br />
|-<br />
|8.<br />
|[[Hydronephrosis]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+ (CVA tenderness in case of pyelonephritis)</nowiki><br />
|<br />
* [[Ultrasound]] allows for visualization of the [[ureters]] and [[kidneys]] and can be used to assess the presence of [[hydronephrosis]] and/or [[hydroureter]]. <br />
|<br />
* In the case of [[renal colic]] (one sided loin pain usually accompanied by a trace of blood in the urine) the initial investigation is usually an intravenous urogram. This has the advantage of showing whether there is any obstruction of flow of urine causing [[hydronephrosis]] as well as demonstrating the function of the other kidney. Many [[Stones- kidney|stones]] are not visible on [[X ray|plain x ray]] or IVU but 99% of [[Stones- kidney|stones]] are visible on [[CT]] and therefore CT is becoming a common choice of initial investigation.<br />
|<br />
* The kidney undergoes extensive dilation with atrophy and thinning of the renal cortex.<br />
|<br />
|-<br />
|9.<br />
|[[Dysplasia|Dysplastic kidney]]<br />
|N/A<br />
|N/A<br />
|N/A<br />
|N/A<br />
|N/A<br />
|<br />
MCDK is usually diagnosed by [[ultrasound]] examination before birth.<br />
* Mass of non-communicating cysts of variable size.<br />
* Unlike severe [[hydronephrosis]], in which the largest cystic structure (the renal pelvis) lies in a central location and is surrounded by dilated calices, in multicystic dysplastic kidney the cyst distribution shows no recognizable pattern.<br />
* [[Dysplasia|Dysplastic]], echogenic [[parenchyma]] may be visible between the cysts, but no normal renal parenchyma is seen.<br />
|<br />
* MCKD can be discovered accidentally on [[CT]] scan.<br />
* [[CT scan]] shows myltiple cysts with absence of renal parenchyma.<br />
|<br />
* MCKD is the result of abnormal differentiation of the renal parenchyma.<br />
|<br />
|-<br />
|10.<br />
|[[Neuroblastoma|Pediatric Neuroblastoma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<br />
* On ultrasound, neuroblastoma is characterized by a heterogeneous [[echogenicity]] due to the [[vascular]], [[necrotic]], and calcified content of the mass.<ref name="radio">Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015</ref><br />
|<br />
*CT scan is the investigation of choice for the diagnosis of neuroblastoma.<ref name="pmid21736987">{{cite journal| author=Colon NC, Chung DH| title=Neuroblastoma. | journal=Adv Pediatr | year= 2011 | volume= 58 | issue= 1 | pages= 297-311 | pmid=21736987 | doi=10.1016/j.yapd.2011.03.011 | pmc=PMC3668791 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21736987 }}</ref><br />
*On CT scan, neuroblastoma is characterized by:<ref name="radio2">Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015</ref><br />
:*Heterogeneous mass<br />
:*[[Calcification]]<br />
:*[[Necrosis]]<br />
:*Compression of the surrounding vessels<br />
:*Invasion of the [[psoas]] [[muscle]] or [[kidney]]s<br />
:*Swollen [[lymph node]]s<br />
|<br />
*On microscopic histopathological analysis the presence of round blue cells separated by thin [[fibrous]] septa are characteristic findings of neuroblastoma.<br />
*Other findings of neuroblastoma on [[light microscopy]] may include:<ref name="patho">Neuroblastoma. Libre Pathology(2015) http://librepathology.org/wiki/index.php/Adrenal_gland#Neuroblastoma Accessed on October, 5 2015</ref><br />
:*Homer-Wright rosettes (rosettes with a small meshwork of fibers at the center)<br />
:*Neuropil-like [[stroma]] (paucicellular stroma with a cotton candy-like appearance)<br />
*On [[electron microscopy]] neuroblastoma is characterized by:<br />
:*Dendritic processes with longitudinally oriented [[microtubule]]s<br />
:*Membrane bound electron-dense [[granule]]s that contain [[catecholamine]]s<br />
:*Presence of [[desmosomes]]<br />
:*Absence of [[glycogen]]<br />
|<br />
|-<br />
|11.<br />
|[[Rhabdomyosarcoma|Pediatric Rhabdomyosarcoma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<br />
|On [[CT scan]], rhabdomyosarocma is characterized by:<br />
* Soft tissue density<br />
* Some enhancement with [[contrast]]<br />
* Adjacent bony destruction (over 20% of cases)<br />
|<br />
* Rhadbomyosarcoma has an appearance similar to the other round blue cell tumors such as [[Ewing sarcoma]] and [[Osteoblastoma|small cell osteoblastoma]].<br />
|<br />
|-<br />
|12.<br />
|[[Mesoblastic nephroma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
*[[Ultrasound]] may be helpful in the diagnosis of mesoblastic nephroma.<br />
*Mesoblastic nephroma may presents as a well-defined [[mass]] with low-level homogeneous echoes.<ref name="radio3">Mesoblastic nephroma.Dr Ayush Goel and Dr Yuranga Weerakkody et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/mesoblastic-nephroma</ref><br />
*The presence of concentric echogenic and hypoechoic rings can be a helpful diagnostic feature of [[mesoblastic nephroma]].<br />
|<br />
* [[CT scan]] may be helpful in the diagnosis of mesoblastic nephroma.<br />
* Findings on CT scan suggestive of mesoblastic nephroma include:<br />
:* Solid hypoattenuating renal lesion<br />
:* Variable contrast enhancement<br />
:* No [[calcification]]<br />
|<br />
Classic mesoblastic nephroma<br />
* [[Spindle cells]] in [[fascicles]]<br />
* Infiltrative border<br />
Cellular mesoblastic nephroma<br />
* Plump cells with vesicular nuclei<br />
* Well-defined border<br />
* Mitotically active<br />
Mixed mesoblastic nephroma<br />
* Both classic pattern and cellular pattern areas are present<br />
|Most common renal tumor that occurs in 1st month of life<br />
|}<br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Kidney diseases]]<br />
[[Category:Types of cancer]]<br />
[[Category:Urology]]<br />
[[Category:Pediatrics]]<br />
[[Category:Hematology]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Wilms%27_tumor_differentiating_from_other_disease&diff=1546972
Wilms' tumor differentiating from other disease
2019-02-07T15:07:37Z
<p>Sargun Walia: /* Wilms' tumor differentiating from other disease */</p>
<hr />
<div>__NOTOC__<br />
{{Wilms' tumor}}<br />
{{CMG}}; {{AE}} {{SSW}}<br />
<br />
==Overview==<br />
Wilms' tumor must be differentiated from [[neuroblastoma]], [[cystic nephroma]], and [[angiomyolipoma]].<br />
<br />
==Wilms' tumor differentiating from other disease==<br />
* [[Neuroblastoma]]<br />
* [[Cystic nephroma]]<br />
* [[Angiomyolipoma]]<br />
<br />
{| class="wikitable"<br />
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |S.No.<br />
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |Disease<br />
! colspan="3" style="background:#4479BA; color: #FFFFFF;" + |Symptoms<br />
! colspan="2" style="background:#4479BA; color: #FFFFFF;" + |Signs<br />
! colspan="3" style="background:#4479BA; color: #FFFFFF;" + |Diagnosis<br />
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |Comments<br />
|-<br />
! style="background:#4479BA; color: #FFFFFF;" + |Abdominal Pain<br />
! style="background:#4479BA; color: #FFFFFF;" + |Hematuria<br />
! style="background:#4479BA; color: #FFFFFF;" + |Headache<br />
! style="background:#4479BA; color: #FFFFFF;" + |Abdominal mass<br />
! style="background:#4479BA; color: #FFFFFF;" + |Abdominal tenderness<br />
! style="background:#4479BA; color: #FFFFFF;" + |Ultrasonography<br />
! style="background:#4479BA; color: #FFFFFF;" + |CT scan<br />
! style="background:#4479BA; color: #FFFFFF;" + |Histology<br />
|-<br />
|1.<br />
|[[Wilms' tumor|Wilms tumor]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+ </nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<br />
*It is the best initial diagnostic study used in cases suspected with [[Wilms tumor]].<br />
*[[Ultrasonography]] can help identify the mass as a kidney mass.<br />
*It can distinguish [[tumor]] mass from other causes of renal swelling like [[hydronephrosis]].<ref name="pmid61529362">{{cite journal |vauthors=Hartman DS, Sanders RC |title=Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation |journal=J Ultrasound Med |volume=1 |issue=3 |pages=117–22 |date=April 1982 |pmid=6152936 |doi= |url=}}</ref><br />
*[[Doppler ultrasonography]] can help to detect invasion of [[renal vein]] and [[Inferior vena cava|IVC]] by the tumor.<ref name="pmid30036602">{{cite journal |vauthors=De Campo JF |title=Ultrasound of Wilms' tumor |journal=Pediatr Radiol |volume=16 |issue=1 |pages=21–4 |date=1986 |pmid=3003660 |doi= |url=}}</ref><br />
|<br />
*Findings on [[CT scan]] which can be suggestive of [[Wilms tumor]] include:<ref name="pmid4080660">{{cite journal |vauthors=Cahan LD |title=Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease |journal=Pediatr Neurosci |volume=12 |issue=1 |pages=58–62 |date=1985 |pmid=4080660 |doi= |url=}}</ref><br />
**Heterogeneous soft-tissue density masses<br />
**These masses have frequent areas of [[calcification]] (~10%) and fat-density regions<br />
**[[Lymph node]] metastasis<br />
*[[CT scan]] of the renal mass can further reveal:<br />
**Invasion of surrounding organs<br />
**[[Thrombus]] in or occlusion of the [[renal vein]] and/or the [[inferior vena cava]]<br />
**Abdominal lymph nodes and contralateral involvement<br />
|<br />
*Wilms tumor has a triphasic appearance.<br />
*It is comprised of 3 types of cells:<br />
**[[Stromal]]<br />
**[[Epithelium|Epithelial]]<br />
**[[Blastema|Blastemal]]<br />
*All the 3 types are not required for the diagnosis of Wilms tumor.<br />
*Primitive tubules and [[Glomerulus|glomeruli]] are often seen comprised of [[Cancer|neoplastic]] cells.<br />
*Beckwith and Palmer reported in NWTS the different histopathologic types of Wilms tumor to categorize them based on prognosis.<ref name="pmid1978">{{cite journal |vauthors=Jolly RD, Stellwagen E, Babul J, Vodkaĭlo LV, Titov VL, Moldomusaev DM, Maianskiĭ AN |title=Mannosidosis of Angus Cattle: a prototype control program for some genetic diseases |journal=Adv Vet Sci Comp Med |volume=19 |issue=23 |pages=1–21 |date=November 1975 |pmid=1978 |doi= |url=}}</ref><br />
<br />
*Spindled cell [[stroma]] surrounding abortive tubules and [[Glomerulus|glomeruli]] is characteristic.<br />
*The stroma may include:<br />
**Striated [[muscle]] [[cartilage]]<br />
**[[bone]]<br />
**[[Adipose tissue|Fat tissue]]<br />
**[[Fibrous connective tissue|Fibrous tissue.]]<br />
|<br />
|-<br />
|2.<br />
|[[Renal cell carcinoma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* [[Ultrasound]] (US) may be helpful when CT scan results are equivocal. It is noteworthy to mention that not all renal cell [[carcinomas]] are detectable on [[ultrasound]].<br />
|Both [[CT]] and [[MRI]] may be used to detect [[neoplastic]] masses that may define renal cell carcinoma or metastasis of the primary cancer. [[CT]] scan and use of intravenous (IV) contrast is generally used for work-up and follow-up of patients with [[Renal cell carcinoma|renal cell carcinom]]<nowiki/>a.<br />
|The histological pattern of renal cell [[carcinoma]] depends whether it is [[Papillary|papillary,]] [[chromophobe]] or [[collecting duct]] renal cell carcinoma.<br />
|<br />
|-<br />
|3.<br />
|[[Malignant rhabdoid tumor|Rhabdoid kidney disease]]<br />
| +<br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* [[Ultrasound]] shows a complex cystic mass. <br />
|<br />
* [[CT]] scan may be diagnostic of malignant rhabdoid tumor. Findings on [[CT]] scan suggestive of malignant rhabdoid tumor include a large, heterogenous, centrally located mass, which is lobulated with individual lobules separated by intervening areas of decreased attenuation, relating to either previous [[hemorrhage]] or [[necrosis]]. Enhancement is similarly heterogeneous. [[Calcification]] is relatively common, observed in 20-50% of cases and is typically linear and tends to outline tumor [[lobules]].<br />
|<br />
* [[Malignant]] rhabdoid tumor is characterized by the round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of [[eosinophilic]] cytoplasm with frequent mitotic figures.<br />
|<br />
|-<br />
|4.<br />
|[[Polycystic kidney disease]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>+ (from hypertension)</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
Ultrasound may be helpful in the diagnosis of polycystic kidney disease. Findings on an ultrasound diagnostic of polycystic kidney disease include:<ref name="pmid25786098">{{cite journal |vauthors=Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, Harris T, Horie S, Kasiske BL, Odland D, Pei Y, Perrone RD, Pirson Y, Schrier RW, Torra R, Torres VE, Watnick T, Wheeler DC |title=Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference |journal=Kidney Int. |volume=88 |issue=1 |pages=17–27 |date=July 2015 |pmid=25786098 |pmc=4913350 |doi=10.1038/ki.2015.59 |url=}}</ref><ref name="pmid18945943">{{cite journal |vauthors=Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D |title=Unified criteria for ultrasonographic diagnosis of ADPKD |journal=J. Am. Soc. Nephrol. |volume=20 |issue=1 |pages=205–12 |date=January 2009 |pmid=18945943 |pmc=2615723 |doi=10.1681/ASN.2008050507 |url=}}</ref><br />
*At least three unilateral or bilateral [[cysts]] in patients 15 - 39 years old<br />
*Atleast two [[cysts]] in each [[kidney]] in patients 40 - 59 years old<br />
*Atleast four [[cysts]] in each [[kidney]] in patients 60 years of age or older<br />
|<br />
[[Renal]] CT scan may be helpful in the diagnosis of polycystic kidney disease. Findings on CT scan diagnostic of ADPKD include:<br />
* Numerous [[renal]] [[cysts]] of varying size and shape with little intervening [[parenchyma]] with water [[attenuation]] and very thin wall.<br />
* Reduction in [[sinus]] [[fat]] due to expansion of the [[cortex]]<br />
* Occasional complex [[cysts]] with hyperdense appearance, with possible septations or calcifications<br />
* Multiple [[homogeneous]] and hypoattenuating [[cystic]] lesions in the [[liver]] in patients with [[liver]] involvement<br />
|<br />
*On microscopic histopathological analysis, interstitial fibrosis, tubular atrophy, thickening and lamellation of tubular basement membranes, microcysts and negative immunofluorescence for complement and immunoglobulin are characteristic findings of ADPKD.<ref name="pmid12234310">{{cite journal |vauthors=Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC |title=Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families |journal=Kidney Int. |volume=62 |issue=4 |pages=1385–94 |date=October 2002 |pmid=12234310 |doi=10.1111/j.1523-1755.2002.kid581.x |url=}}</ref><ref name="pmid24509297">{{cite journal |vauthors=Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS |title=Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1 |journal=Clin J Am Soc Nephrol |volume=9 |issue=3 |pages=527–35 |date=March 2014 |pmid=24509297 |pmc=3944763 |doi=10.2215/CJN.06380613 |url=}}</ref><ref name="pmid21775974">{{cite journal |vauthors=Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D |title=Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood |journal=Kidney Int. |volume=80 |issue=7 |pages=768–76 |date=October 2011 |pmid=21775974 |doi=10.1038/ki.2011.225 |url=}}</ref><ref name="pmid20378641">{{cite journal |vauthors=Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R |title=Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases |journal=Clin J Am Soc Nephrol |volume=5 |issue=6 |pages=1079–90 |date=June 2010 |pmid=20378641 |pmc=2879303 |doi=10.2215/CJN.06810909 |url=}}</ref><br />
<br />
|<br />
|-<br />
|5.<br />
|[[Pheochromocytoma]]<br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+ (as a part of the hypertension paroxysm)</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* CT is the preferred imaging modality for the diagnosis of pheochromocytoma.<br />
|The following findings may be observed on [[CT scan]]:<ref name="pmid1787652">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652 }}</ref><br />
*Most common extra-[[Adrenal gland|adrenal]] locations are superior and inferior [[abdominal]] [[Paraaortic lymph node|paraaortic]] areas, the [[urinary bladder]], [[thorax]], [[head]], [[neck]] and [[pelvis]].<ref name="pmid1729490">{{cite journal| author=Whalen RK, Althausen AF, Daniels GH| title=Extra-adrenal pheochromocytoma. | journal=J Urol | year= 1992 | volume= 147 | issue= 1 | pages= 1-10 | pmid=1729490 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1729490 }}</ref><br />
<br />
*In sporadic pheochromocytoma, [[CT]] and [[MRI]] are good choices. The choice depends on availability and cost.<ref name="pmid191248172">{{cite journal| author=Baid SK, Lai EW, Wesley RA, Ling A, Timmers HJ, Adams KT et al.| title=Brief communication: radiographic contrast infusion and catecholamine release in patients with pheochromocytoma. | journal=Ann Intern Med | year= 2009 | volume= 150 | issue= 1 | pages= 27-32 | pmid=19124817 | doi= | pmc=3490128 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19124817 }}</ref><br />
*In patients with the [[multiple endocrine neoplasia]] type 2 ([[Multiple endocrine neoplasia type 2|MEN2]]) syndrome, [[CT]] may miss the [[tumors]].<ref name="pmid17876522">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652 }}</ref><br />
|<br />
* On microscopic pathology, [[Pheochromocytoma]] typically demonstrates a nesting (Zellballen) pattern on microscopy. This pattern is composed of well-defined clusters of tumor cells containing [[eosinophilic]] cytoplasm separated by fibrovascular [[stroma]].<br />
|<br />
|-<br />
|6.<br />
|[[Burkitt's lymphoma|Burkitt lymphoma]]<br />
|<nowiki>+/- (in non-endemic or sporadic form of the disease)</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* Abdominal [[ultrasonography]] may show [[splenomegaly]] and [[ascites]].<br />
|<br />
* Chest, abdomen, and pelvis [[CT]] scan may be helpful in the diagnosis of [[Burkitt's lymphoma]] but it is not done routinely.<ref name="medlineplus">Burkitt lymphoma. MedlinePlus. https://www.nlm.nih.gov/medlineplus/ency/article/001308.htm Accessed on September 30, 2015</ref><br />
|<br />
*On microscopic histopathological analysis, characteristic findings of Burkitt's lymphoma include:<ref name="pmid12610094">{{cite journal |author=Bellan C, Lazzi S, De Falco G, Nyongo A, Giordano A, Leoncini L |title=Burkitt's lymphoma: new insights into molecular pathogenesis |journal=J. Clin. Pathol. |volume=56 |issue=3 |pages=188–92 |year=2003 |month=March |pmid=12610094 |pmc=1769902 |doi= |url=http://jcp.bmj.com/cgi/pmidlookup?view=long&pmid=12610094}}</ref><br />
:*Medium-sized (~1.5-2x the size of a RBC) with uniform size ("monotonous") -- '''key feature''' (i.e. tumor nuclei size similar to that of [[histiocytes]] or [[endothelial cells]])<br />
:*Round nucleus<br />
:*Small nucleoli<br />
:*Relatively abundant cytoplasm ([[basophilic]])<br />
:*Brisk mitotic rate and [[apoptotic]] activity<br />
:*Cellular outline usually appears squared off<br />
:*"Starry-sky pattern":<br />
::*The ''stars'' in the pattern are tingible-body macrophages (macrophages containing [[apoptotic]] tumor cells.<br />
::*The tumour cells are the ''sky''<br />
|<br />
|-<br />
|7.<br />
|[[Intussusception]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+/- </nowiki><br />
|<nowiki>+</nowiki><br />
|<br />
* [[Ultrasound]] is the [[Gold standard (test)|gold standard]] imaging modality used to diagnose intussusception<ref name="pmid17308922">{{cite journal |vauthors=Ko HS, Schenk JP, Tröger J, Rohrschneider WK |title=Current radiological management of intussusception in children |journal=Eur Radiol |volume=17 |issue=9 |pages=2411–21 |year=2007 |pmid=17308922 |doi=10.1007/s00330-007-0589-y |url=}}</ref><br />
**Target or doughnut sign<ref name="pmid8470658">{{cite journal |vauthors=Boyle MJ, Arkell LJ, Williams JT |title=Ultrasonic diagnosis of adult intussusception |journal=Am. J. Gastroenterol. |volume=88 |issue=4 |pages=617–8 |year=1993 |pmid=8470658 |doi= |url=}}</ref><br />
***Edematous intussuscipien forms an external ring around the centrally located intussusceptum<br />
***Target sign is usually seen in right lower quadrant<br />
**Layers of intussusception forms pseudo-kidney appearance on the transverse view<br />
|<br />
* [[Computed tomography|CT scan]] may be helpful in the [[diagnosis]] of intussusception. [[Computed tomography|CT scan]] maybe used when other image modalities like [[x-ray]] and [[ultrasound]] have not given positive results but suspicion of intussusception is high.<br />
|<br />
* Intussusception occurs if there is an imbalance between the longitudinal and radial [[smooth muscle]] forces of [[intestine]] that maintain its normal structure. This imbalance leads to a segment of [[intestine]] to invaginate into another segment and cause entero-enteral intussusception. [[Etiology]] of intussusception is either idiopathic or [[Pathology|pathologic]] (lead point). <br />
|<br />
|-<br />
|8.<br />
|[[Hydronephrosis]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+ (CVA tenderness in case of pyelonephritis)</nowiki><br />
|<br />
* [[Ultrasound]] allows for visualization of the [[ureters]] and [[kidneys]] and can be used to assess the presence of [[hydronephrosis]] and/or [[hydroureter]]. <br />
|<br />
* In the case of [[renal colic]] (one sided loin pain usually accompanied by a trace of blood in the urine) the initial investigation is usually an intravenous urogram. This has the advantage of showing whether there is any obstruction of flow of urine causing [[hydronephrosis]] as well as demonstrating the function of the other kidney. Many [[Stones- kidney|stones]] are not visible on [[X ray|plain x ray]] or IVU but 99% of [[Stones- kidney|stones]] are visible on [[CT]] and therefore CT is becoming a common choice of initial investigation.<br />
|<br />
* The kidney undergoes extensive dilation with atrophy and thinning of the renal cortex.<br />
|<br />
|-<br />
|9.<br />
|[[Dysplasia|Dysplastic kidney]]<br />
|N/A<br />
|N/A<br />
|N/A<br />
|N/A<br />
|N/A<br />
|<br />
MCDK is usually diagnosed by [[ultrasound]] examination before birth.<br />
* Mass of non-communicating cysts of variable size.<br />
* Unlike severe [[hydronephrosis]], in which the largest cystic structure (the renal pelvis) lies in a central location and is surrounded by dilated calices, in multicystic dysplastic kidney the cyst distribution shows no recognizable pattern.<br />
* [[Dysplasia|Dysplastic]], echogenic [[parenchyma]] may be visible between the cysts, but no normal renal parenchyma is seen.<br />
|<br />
* MCKD can be discovered accidentally on [[CT]] scan.<br />
* [[CT scan]] shows myltiple cysts with absence of renal parenchyma.<br />
|<br />
* MCKD is the result of abnormal differentiation of the renal parenchyma.<br />
|<br />
|-<br />
|10.<br />
|[[Neuroblastoma|Pediatric Neuroblastoma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<br />
* On ultrasound, neuroblastoma is characterized by a heterogeneous [[echogenicity]] due to the [[vascular]], [[necrotic]], and calcified content of the mass.<ref name="radio">Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015</ref><br />
|<br />
*CT scan is the investigation of choice for the diagnosis of neuroblastoma.<ref name="pmid21736987">{{cite journal| author=Colon NC, Chung DH| title=Neuroblastoma. | journal=Adv Pediatr | year= 2011 | volume= 58 | issue= 1 | pages= 297-311 | pmid=21736987 | doi=10.1016/j.yapd.2011.03.011 | pmc=PMC3668791 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21736987 }}</ref><br />
*On CT scan, neuroblastoma is characterized by:<ref name="radio2">Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015</ref><br />
:*Heterogeneous mass<br />
:*[[Calcification]]<br />
:*[[Necrosis]]<br />
:*Compression of the surrounding vessels<br />
:*Invasion of the [[psoas]] [[muscle]] or [[kidney]]s<br />
:*Swollen [[lymph node]]s<br />
|<br />
*On microscopic histopathological analysis the presence of round blue cells separated by thin [[fibrous]] septa are characteristic findings of neuroblastoma.<br />
*Other findings of neuroblastoma on [[light microscopy]] may include:<ref name="patho">Neuroblastoma. Libre Pathology(2015) http://librepathology.org/wiki/index.php/Adrenal_gland#Neuroblastoma Accessed on October, 5 2015</ref><br />
:*Homer-Wright rosettes (rosettes with a small meshwork of fibers at the center)<br />
:*Neuropil-like [[stroma]] (paucicellular stroma with a cotton candy-like appearance)<br />
*On [[electron microscopy]] neuroblastoma is characterized by:<br />
:*Dendritic processes with longitudinally oriented [[microtubule]]s<br />
:*Membrane bound electron-dense [[granule]]s that contain [[catecholamine]]s<br />
:*Presence of [[desmosomes]]<br />
:*Absence of [[glycogen]]<br />
|<br />
|-<br />
|11.<br />
|[[Rhabdomyosarcoma|Pediatric Rhabdomyosarcoma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<br />
|On [[CT scan]], rhabdomyosarocma is characterized by:<br />
* Soft tissue density<br />
* Some enhancement with [[contrast]]<br />
* Adjacent bony destruction (over 20% of cases)<br />
|<br />
* Rhadbomyosarcoma has an appearance similar to the other round blue cell tumors such as [[Ewing sarcoma]] and [[Osteoblastoma|small cell osteoblastoma]].<br />
|<br />
|-<br />
|12.<br />
|[[Mesoblastic nephroma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
*[[Ultrasound]] may be helpful in the diagnosis of mesoblastic nephroma.<br />
*Mesoblastic nephroma may presents as a well-defined [[mass]] with low-level homogeneous echoes.<ref name="radio3">Mesoblastic nephroma.Dr Ayush Goel and Dr Yuranga Weerakkody et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/mesoblastic-nephroma</ref><br />
*The presence of concentric echogenic and hypoechoic rings can be a helpful diagnostic feature of [[mesoblastic nephroma]].<br />
|<br />
* [[CT scan]] may be helpful in the diagnosis of mesoblastic nephroma.<br />
* Findings on CT scan suggestive of mesoblastic nephroma include:<br />
:* Solid hypoattenuating renal lesion<br />
:* Variable contrast enhancement<br />
:* No [[calcification]]<br />
|<br />
Classic mesoblastic nephroma<br />
* [[Spindle cells]] in [[fascicles]]<br />
* Infiltrative border<br />
Cellular mesoblastic nephroma<br />
* Plump cells with vesicular nuclei<br />
* Well-defined border<br />
* Mitotically active<br />
Mixed mesoblastic nephroma<br />
* Both classic pattern and cellular pattern areas are present<br />
|Most common renal tumor that occurs in 1st month of life<br />
|}<br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Kidney diseases]]<br />
[[Category:Types of cancer]]<br />
[[Category:Urology]]<br />
[[Category:Pediatrics]]<br />
[[Category:Hematology]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Wilms%27_tumor_differentiating_from_other_disease&diff=1546964
Wilms' tumor differentiating from other disease
2019-02-07T15:04:28Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Wilms' tumor}}<br />
{{CMG}}; {{AE}} {{SSW}}<br />
<br />
==Overview==<br />
Wilms' tumor must be differentiated from [[neuroblastoma]], [[cystic nephroma]], and [[angiomyolipoma]].<br />
<br />
==Wilms' tumor differentiating from other disease==<br />
* [[Neuroblastoma]]<br />
* [[Cystic nephroma]]<br />
* [[Angiomyolipoma]]<br />
<br />
{| class="wikitable"<br />
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |S.No.<br />
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |Disease<br />
! colspan="3" style="background:#4479BA; color: #FFFFFF;" + |Symptoms<br />
! colspan="2" style="background:#4479BA; color: #FFFFFF;" + |Signs<br />
! colspan="3" style="background:#4479BA; color: #FFFFFF;" + |Diagnosis<br />
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |Comments<br />
|-<br />
!Abdominal Pain<br />
!Hematuria<br />
!Headache<br />
!Abdominal mass<br />
!Abdominal tenderness<br />
!Ultrasonography<br />
!CT scan<br />
!Histology<br />
|-<br />
|1.<br />
|[[Wilms' tumor|Wilms tumor]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+ </nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<br />
*It is the best initial diagnostic study used in cases suspected with [[Wilms tumor]].<br />
*[[Ultrasonography]] can help identify the mass as a kidney mass.<br />
*It can distinguish [[tumor]] mass from other causes of renal swelling like [[hydronephrosis]].<ref name="pmid61529362">{{cite journal |vauthors=Hartman DS, Sanders RC |title=Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation |journal=J Ultrasound Med |volume=1 |issue=3 |pages=117–22 |date=April 1982 |pmid=6152936 |doi= |url=}}</ref><br />
*[[Doppler ultrasonography]] can help to detect invasion of [[renal vein]] and [[Inferior vena cava|IVC]] by the tumor.<ref name="pmid30036602">{{cite journal |vauthors=De Campo JF |title=Ultrasound of Wilms' tumor |journal=Pediatr Radiol |volume=16 |issue=1 |pages=21–4 |date=1986 |pmid=3003660 |doi= |url=}}</ref><br />
|<br />
*Findings on [[CT scan]] which can be suggestive of [[Wilms tumor]] include:<ref name="pmid4080660">{{cite journal |vauthors=Cahan LD |title=Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease |journal=Pediatr Neurosci |volume=12 |issue=1 |pages=58–62 |date=1985 |pmid=4080660 |doi= |url=}}</ref><br />
**Heterogeneous soft-tissue density masses<br />
**These masses have frequent areas of [[calcification]] (~10%) and fat-density regions<br />
**[[Lymph node]] metastasis<br />
*[[CT scan]] of the renal mass can further reveal:<br />
**Invasion of surrounding organs<br />
**[[Thrombus]] in or occlusion of the [[renal vein]] and/or the [[inferior vena cava]]<br />
**Abdominal lymph nodes and contralateral involvement<br />
|<br />
*Wilms tumor has a triphasic appearance.<br />
*It is comprised of 3 types of cells:<br />
**[[Stromal]]<br />
**[[Epithelium|Epithelial]]<br />
**[[Blastema|Blastemal]]<br />
*All the 3 types are not required for the diagnosis of Wilms tumor.<br />
*Primitive tubules and [[Glomerulus|glomeruli]] are often seen comprised of [[Cancer|neoplastic]] cells.<br />
*Beckwith and Palmer reported in NWTS the different histopathologic types of Wilms tumor to categorize them based on prognosis.<ref name="pmid1978">{{cite journal |vauthors=Jolly RD, Stellwagen E, Babul J, Vodkaĭlo LV, Titov VL, Moldomusaev DM, Maianskiĭ AN |title=Mannosidosis of Angus Cattle: a prototype control program for some genetic diseases |journal=Adv Vet Sci Comp Med |volume=19 |issue=23 |pages=1–21 |date=November 1975 |pmid=1978 |doi= |url=}}</ref><br />
<br />
*Spindled cell [[stroma]] surrounding abortive tubules and [[Glomerulus|glomeruli]] is characteristic.<br />
*The stroma may include:<br />
**Striated [[muscle]] [[cartilage]]<br />
**[[bone]]<br />
**[[Adipose tissue|Fat tissue]]<br />
**[[Fibrous connective tissue|Fibrous tissue.]]<br />
|<br />
|-<br />
|2.<br />
|[[Renal cell carcinoma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* [[Ultrasound]] (US) may be helpful when CT scan results are equivocal. It is noteworthy to mention that not all renal cell [[carcinomas]] are detectable on [[ultrasound]].<br />
|Both [[CT]] and [[MRI]] may be used to detect [[neoplastic]] masses that may define renal cell carcinoma or metastasis of the primary cancer. [[CT]] scan and use of intravenous (IV) contrast is generally used for work-up and follow-up of patients with [[Renal cell carcinoma|renal cell carcinom]]<nowiki/>a.<br />
|The histological pattern of renal cell [[carcinoma]] depends whether it is [[Papillary|papillary,]] [[chromophobe]] or [[collecting duct]] renal cell carcinoma.<br />
|<br />
|-<br />
|3.<br />
|[[Malignant rhabdoid tumor|Rhabdoid kidney disease]]<br />
| +<br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* [[Ultrasound]] shows a complex cystic mass. <br />
|<br />
* [[CT]] scan may be diagnostic of malignant rhabdoid tumor. Findings on [[CT]] scan suggestive of malignant rhabdoid tumor include a large, heterogenous, centrally located mass, which is lobulated with individual lobules separated by intervening areas of decreased attenuation, relating to either previous [[hemorrhage]] or [[necrosis]]. Enhancement is similarly heterogeneous. [[Calcification]] is relatively common, observed in 20-50% of cases and is typically linear and tends to outline tumor [[lobules]].<br />
|<br />
* [[Malignant]] rhabdoid tumor is characterized by the round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of [[eosinophilic]] cytoplasm with frequent mitotic figures.<br />
|<br />
|-<br />
|4.<br />
|[[Polycystic kidney disease]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>+ (from hypertension)</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
Ultrasound may be helpful in the diagnosis of polycystic kidney disease. Findings on an ultrasound diagnostic of polycystic kidney disease include:<ref name="pmid25786098">{{cite journal |vauthors=Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, Harris T, Horie S, Kasiske BL, Odland D, Pei Y, Perrone RD, Pirson Y, Schrier RW, Torra R, Torres VE, Watnick T, Wheeler DC |title=Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference |journal=Kidney Int. |volume=88 |issue=1 |pages=17–27 |date=July 2015 |pmid=25786098 |pmc=4913350 |doi=10.1038/ki.2015.59 |url=}}</ref><ref name="pmid18945943">{{cite journal |vauthors=Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D |title=Unified criteria for ultrasonographic diagnosis of ADPKD |journal=J. Am. Soc. Nephrol. |volume=20 |issue=1 |pages=205–12 |date=January 2009 |pmid=18945943 |pmc=2615723 |doi=10.1681/ASN.2008050507 |url=}}</ref><br />
*At least three unilateral or bilateral [[cysts]] in patients 15 - 39 years old<br />
*Atleast two [[cysts]] in each [[kidney]] in patients 40 - 59 years old<br />
*Atleast four [[cysts]] in each [[kidney]] in patients 60 years of age or older<br />
|<br />
[[Renal]] CT scan may be helpful in the diagnosis of polycystic kidney disease. Findings on CT scan diagnostic of ADPKD include:<br />
* Numerous [[renal]] [[cysts]] of varying size and shape with little intervening [[parenchyma]] with water [[attenuation]] and very thin wall.<br />
* Reduction in [[sinus]] [[fat]] due to expansion of the [[cortex]]<br />
* Occasional complex [[cysts]] with hyperdense appearance, with possible septations or calcifications<br />
* Multiple [[homogeneous]] and hypoattenuating [[cystic]] lesions in the [[liver]] in patients with [[liver]] involvement<br />
|<br />
*On microscopic histopathological analysis, interstitial fibrosis, tubular atrophy, thickening and lamellation of tubular basement membranes, microcysts and negative immunofluorescence for complement and immunoglobulin are characteristic findings of ADPKD.<ref name="pmid12234310">{{cite journal |vauthors=Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC |title=Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families |journal=Kidney Int. |volume=62 |issue=4 |pages=1385–94 |date=October 2002 |pmid=12234310 |doi=10.1111/j.1523-1755.2002.kid581.x |url=}}</ref><ref name="pmid24509297">{{cite journal |vauthors=Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS |title=Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1 |journal=Clin J Am Soc Nephrol |volume=9 |issue=3 |pages=527–35 |date=March 2014 |pmid=24509297 |pmc=3944763 |doi=10.2215/CJN.06380613 |url=}}</ref><ref name="pmid21775974">{{cite journal |vauthors=Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D |title=Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood |journal=Kidney Int. |volume=80 |issue=7 |pages=768–76 |date=October 2011 |pmid=21775974 |doi=10.1038/ki.2011.225 |url=}}</ref><ref name="pmid20378641">{{cite journal |vauthors=Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R |title=Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases |journal=Clin J Am Soc Nephrol |volume=5 |issue=6 |pages=1079–90 |date=June 2010 |pmid=20378641 |pmc=2879303 |doi=10.2215/CJN.06810909 |url=}}</ref><br />
<br />
|<br />
|-<br />
|5.<br />
|[[Pheochromocytoma]]<br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+ (as a part of the hypertension paroxysm)</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* CT is the preferred imaging modality for the diagnosis of pheochromocytoma.<br />
|The following findings may be observed on [[CT scan]]:<ref name="pmid1787652">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652 }}</ref><br />
*Most common extra-[[Adrenal gland|adrenal]] locations are superior and inferior [[abdominal]] [[Paraaortic lymph node|paraaortic]] areas, the [[urinary bladder]], [[thorax]], [[head]], [[neck]] and [[pelvis]].<ref name="pmid1729490">{{cite journal| author=Whalen RK, Althausen AF, Daniels GH| title=Extra-adrenal pheochromocytoma. | journal=J Urol | year= 1992 | volume= 147 | issue= 1 | pages= 1-10 | pmid=1729490 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1729490 }}</ref><br />
<br />
*In sporadic pheochromocytoma, [[CT]] and [[MRI]] are good choices. The choice depends on availability and cost.<ref name="pmid191248172">{{cite journal| author=Baid SK, Lai EW, Wesley RA, Ling A, Timmers HJ, Adams KT et al.| title=Brief communication: radiographic contrast infusion and catecholamine release in patients with pheochromocytoma. | journal=Ann Intern Med | year= 2009 | volume= 150 | issue= 1 | pages= 27-32 | pmid=19124817 | doi= | pmc=3490128 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19124817 }}</ref><br />
*In patients with the [[multiple endocrine neoplasia]] type 2 ([[Multiple endocrine neoplasia type 2|MEN2]]) syndrome, [[CT]] may miss the [[tumors]].<ref name="pmid17876522">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652 }}</ref><br />
|<br />
* On microscopic pathology, [[Pheochromocytoma]] typically demonstrates a nesting (Zellballen) pattern on microscopy. This pattern is composed of well-defined clusters of tumor cells containing [[eosinophilic]] cytoplasm separated by fibrovascular [[stroma]].<br />
|<br />
|-<br />
|6.<br />
|[[Burkitt's lymphoma|Burkitt lymphoma]]<br />
|<nowiki>+/- (in non-endemic or sporadic form of the disease)</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* Abdominal [[ultrasonography]] may show [[splenomegaly]] and [[ascites]].<br />
|<br />
* Chest, abdomen, and pelvis [[CT]] scan may be helpful in the diagnosis of [[Burkitt's lymphoma]] but it is not done routinely.<ref name="medlineplus">Burkitt lymphoma. MedlinePlus. https://www.nlm.nih.gov/medlineplus/ency/article/001308.htm Accessed on September 30, 2015</ref><br />
|<br />
*On microscopic histopathological analysis, characteristic findings of Burkitt's lymphoma include:<ref name="pmid12610094">{{cite journal |author=Bellan C, Lazzi S, De Falco G, Nyongo A, Giordano A, Leoncini L |title=Burkitt's lymphoma: new insights into molecular pathogenesis |journal=J. Clin. Pathol. |volume=56 |issue=3 |pages=188–92 |year=2003 |month=March |pmid=12610094 |pmc=1769902 |doi= |url=http://jcp.bmj.com/cgi/pmidlookup?view=long&pmid=12610094}}</ref><br />
:*Medium-sized (~1.5-2x the size of a RBC) with uniform size ("monotonous") -- '''key feature''' (i.e. tumor nuclei size similar to that of [[histiocytes]] or [[endothelial cells]])<br />
:*Round nucleus<br />
:*Small nucleoli<br />
:*Relatively abundant cytoplasm ([[basophilic]])<br />
:*Brisk mitotic rate and [[apoptotic]] activity<br />
:*Cellular outline usually appears squared off<br />
:*"Starry-sky pattern":<br />
::*The ''stars'' in the pattern are tingible-body macrophages (macrophages containing [[apoptotic]] tumor cells.<br />
::*The tumour cells are the ''sky''<br />
|<br />
|-<br />
|7.<br />
|[[Intussusception]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+/- </nowiki><br />
|<nowiki>+</nowiki><br />
|<br />
* [[Ultrasound]] is the [[Gold standard (test)|gold standard]] imaging modality used to diagnose intussusception<ref name="pmid17308922">{{cite journal |vauthors=Ko HS, Schenk JP, Tröger J, Rohrschneider WK |title=Current radiological management of intussusception in children |journal=Eur Radiol |volume=17 |issue=9 |pages=2411–21 |year=2007 |pmid=17308922 |doi=10.1007/s00330-007-0589-y |url=}}</ref><br />
**Target or doughnut sign<ref name="pmid8470658">{{cite journal |vauthors=Boyle MJ, Arkell LJ, Williams JT |title=Ultrasonic diagnosis of adult intussusception |journal=Am. J. Gastroenterol. |volume=88 |issue=4 |pages=617–8 |year=1993 |pmid=8470658 |doi= |url=}}</ref><br />
***Edematous intussuscipien forms an external ring around the centrally located intussusceptum<br />
***Target sign is usually seen in right lower quadrant<br />
**Layers of intussusception forms pseudo-kidney appearance on the transverse view<br />
|<br />
* [[Computed tomography|CT scan]] may be helpful in the [[diagnosis]] of intussusception. [[Computed tomography|CT scan]] maybe used when other image modalities like [[x-ray]] and [[ultrasound]] have not given positive results but suspicion of intussusception is high.<br />
|<br />
* Intussusception occurs if there is an imbalance between the longitudinal and radial [[smooth muscle]] forces of [[intestine]] that maintain its normal structure. This imbalance leads to a segment of [[intestine]] to invaginate into another segment and cause entero-enteral intussusception. [[Etiology]] of intussusception is either idiopathic or [[Pathology|pathologic]] (lead point). <br />
|<br />
|-<br />
|8.<br />
|[[Hydronephrosis]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+ (CVA tenderness in case of pyelonephritis)</nowiki><br />
|<br />
* [[Ultrasound]] allows for visualization of the [[ureters]] and [[kidneys]] and can be used to assess the presence of [[hydronephrosis]] and/or [[hydroureter]]. <br />
|<br />
* In the case of [[renal colic]] (one sided loin pain usually accompanied by a trace of blood in the urine) the initial investigation is usually an intravenous urogram. This has the advantage of showing whether there is any obstruction of flow of urine causing [[hydronephrosis]] as well as demonstrating the function of the other kidney. Many [[Stones- kidney|stones]] are not visible on [[X ray|plain x ray]] or IVU but 99% of [[Stones- kidney|stones]] are visible on [[CT]] and therefore CT is becoming a common choice of initial investigation.<br />
|<br />
* The kidney undergoes extensive dilation with atrophy and thinning of the renal cortex.<br />
|<br />
|-<br />
|9.<br />
|[[Dysplasia|Dysplastic kidney]]<br />
|N/A<br />
|N/A<br />
|N/A<br />
|N/A<br />
|N/A<br />
|<br />
MCDK is usually diagnosed by [[ultrasound]] examination before birth.<br />
* Mass of non-communicating cysts of variable size.<br />
* Unlike severe [[hydronephrosis]], in which the largest cystic structure (the renal pelvis) lies in a central location and is surrounded by dilated calices, in multicystic dysplastic kidney the cyst distribution shows no recognizable pattern.<br />
* [[Dysplasia|Dysplastic]], echogenic [[parenchyma]] may be visible between the cysts, but no normal renal parenchyma is seen.<br />
|<br />
* MCKD can be discovered accidentally on [[CT]] scan.<br />
* [[CT scan]] shows myltiple cysts with absence of renal parenchyma.<br />
|<br />
* MCKD is the result of abnormal differentiation of the renal parenchyma.<br />
|<br />
|-<br />
|10.<br />
|[[Neuroblastoma|Pediatric Neuroblastoma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<br />
* On ultrasound, neuroblastoma is characterized by a heterogeneous [[echogenicity]] due to the [[vascular]], [[necrotic]], and calcified content of the mass.<ref name="radio">Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015</ref><br />
|<br />
*CT scan is the investigation of choice for the diagnosis of neuroblastoma.<ref name="pmid21736987">{{cite journal| author=Colon NC, Chung DH| title=Neuroblastoma. | journal=Adv Pediatr | year= 2011 | volume= 58 | issue= 1 | pages= 297-311 | pmid=21736987 | doi=10.1016/j.yapd.2011.03.011 | pmc=PMC3668791 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21736987 }}</ref><br />
*On CT scan, neuroblastoma is characterized by:<ref name="radio2">Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015</ref><br />
:*Heterogeneous mass<br />
:*[[Calcification]]<br />
:*[[Necrosis]]<br />
:*Compression of the surrounding vessels<br />
:*Invasion of the [[psoas]] [[muscle]] or [[kidney]]s<br />
:*Swollen [[lymph node]]s<br />
|<br />
*On microscopic histopathological analysis the presence of round blue cells separated by thin [[fibrous]] septa are characteristic findings of neuroblastoma.<br />
*Other findings of neuroblastoma on [[light microscopy]] may include:<ref name="patho">Neuroblastoma. Libre Pathology(2015) http://librepathology.org/wiki/index.php/Adrenal_gland#Neuroblastoma Accessed on October, 5 2015</ref><br />
:*Homer-Wright rosettes (rosettes with a small meshwork of fibers at the center)<br />
:*Neuropil-like [[stroma]] (paucicellular stroma with a cotton candy-like appearance)<br />
*On [[electron microscopy]] neuroblastoma is characterized by:<br />
:*Dendritic processes with longitudinally oriented [[microtubule]]s<br />
:*Membrane bound electron-dense [[granule]]s that contain [[catecholamine]]s<br />
:*Presence of [[desmosomes]]<br />
:*Absence of [[glycogen]]<br />
|<br />
|-<br />
|11.<br />
|[[Rhabdomyosarcoma|Pediatric Rhabdomyosarcoma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<br />
|On [[CT scan]], rhabdomyosarocma is characterized by:<br />
* Soft tissue density<br />
* Some enhancement with [[contrast]]<br />
* Adjacent bony destruction (over 20% of cases)<br />
|<br />
* Rhadbomyosarcoma has an appearance similar to the other round blue cell tumors such as [[Ewing sarcoma]] and [[Osteoblastoma|small cell osteoblastoma]].<br />
|<br />
|-<br />
|12.<br />
|[[Mesoblastic nephroma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
*[[Ultrasound]] may be helpful in the diagnosis of mesoblastic nephroma.<br />
*Mesoblastic nephroma may presents as a well-defined [[mass]] with low-level homogeneous echoes.<ref name="radio3">Mesoblastic nephroma.Dr Ayush Goel and Dr Yuranga Weerakkody et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/mesoblastic-nephroma</ref><br />
*The presence of concentric echogenic and hypoechoic rings can be a helpful diagnostic feature of [[mesoblastic nephroma]].<br />
|<br />
* [[CT scan]] may be helpful in the diagnosis of mesoblastic nephroma.<br />
* Findings on CT scan suggestive of mesoblastic nephroma include:<br />
:* Solid hypoattenuating renal lesion<br />
:* Variable contrast enhancement<br />
:* No [[calcification]]<br />
|<br />
Classic mesoblastic nephroma<br />
* [[Spindle cells]] in [[fascicles]]<br />
* Infiltrative border<br />
Cellular mesoblastic nephroma<br />
* Plump cells with vesicular nuclei<br />
* Well-defined border<br />
* Mitotically active<br />
Mixed mesoblastic nephroma<br />
* Both classic pattern and cellular pattern areas are present<br />
|Most common renal tumor that occurs in 1st month of life<br />
|}<br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Kidney diseases]]<br />
[[Category:Types of cancer]]<br />
[[Category:Urology]]<br />
[[Category:Pediatrics]]<br />
[[Category:Hematology]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Wilms%27_tumor_differentiating_from_other_disease&diff=1545417
Wilms' tumor differentiating from other disease
2019-02-04T20:29:01Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Wilms' tumor}}<br />
{{CMG}}; {{AE}} {{SSW}}<br />
<br />
==Overview==<br />
Wilms' tumor must be differentiated from [[neuroblastoma]], [[cystic nephroma]], and [[angiomyolipoma]].<br />
<br />
==Wilms' tumor differentiating from other disease==<br />
* [[Neuroblastoma]]<br />
* [[Cystic nephroma]]<br />
* [[Angiomyolipoma]]<br />
<br />
{| class="wikitable"<br />
! rowspan="2" |S.No.<br />
! rowspan="2" |Disease<br />
! colspan="3" |Symptoms<br />
! colspan="2" |Signs<br />
! colspan="3" |Diagnosis<br />
! rowspan="2" |Comments<br />
|-<br />
!Abdominal Pain<br />
!Hematuria<br />
!Headache<br />
!Abdominal mass<br />
!Abdominal tenderness<br />
!Ultrasonography<br />
!CT scan<br />
!Histology<br />
|-<br />
|1.<br />
|[[Wilms' tumor|Wilms tumor]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+ </nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<br />
*It is the best initial diagnostic study used in cases suspected with [[Wilms tumor]].<br />
*[[Ultrasonography]] can help identify the mass as a kidney mass.<br />
*It can distinguish [[tumor]] mass from other causes of renal swelling like [[hydronephrosis]].<ref name="pmid61529362">{{cite journal |vauthors=Hartman DS, Sanders RC |title=Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation |journal=J Ultrasound Med |volume=1 |issue=3 |pages=117–22 |date=April 1982 |pmid=6152936 |doi= |url=}}</ref><br />
*[[Doppler ultrasonography]] can help to detect invasion of [[renal vein]] and [[Inferior vena cava|IVC]] by the tumor.<ref name="pmid30036602">{{cite journal |vauthors=De Campo JF |title=Ultrasound of Wilms' tumor |journal=Pediatr Radiol |volume=16 |issue=1 |pages=21–4 |date=1986 |pmid=3003660 |doi= |url=}}</ref><br />
|<br />
*Findings on [[CT scan]] which can be suggestive of [[Wilms tumor]] include:<ref name="pmid4080660">{{cite journal |vauthors=Cahan LD |title=Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease |journal=Pediatr Neurosci |volume=12 |issue=1 |pages=58–62 |date=1985 |pmid=4080660 |doi= |url=}}</ref><br />
**Heterogeneous soft-tissue density masses<br />
**These masses have frequent areas of [[calcification]] (~10%) and fat-density regions<br />
**[[Lymph node]] metastasis<br />
*[[CT scan]] of the renal mass can further reveal:<br />
**Invasion of surrounding organs<br />
**[[Thrombus]] in or occlusion of the [[renal vein]] and/or the [[inferior vena cava]]<br />
**Abdominal lymph nodes and contralateral involvement<br />
|<br />
*Wilms tumor has a triphasic appearance.<br />
*It is comprised of 3 types of cells:<br />
**[[Stromal]]<br />
**[[Epithelium|Epithelial]]<br />
**[[Blastema|Blastemal]]<br />
*All the 3 types are not required for the diagnosis of Wilms tumor.<br />
*Primitive tubules and [[Glomerulus|glomeruli]] are often seen comprised of [[Cancer|neoplastic]] cells.<br />
*Beckwith and Palmer reported in NWTS the different histopathologic types of Wilms tumor to categorize them based on prognosis.<ref name="pmid1978">{{cite journal |vauthors=Jolly RD, Stellwagen E, Babul J, Vodkaĭlo LV, Titov VL, Moldomusaev DM, Maianskiĭ AN |title=Mannosidosis of Angus Cattle: a prototype control program for some genetic diseases |journal=Adv Vet Sci Comp Med |volume=19 |issue=23 |pages=1–21 |date=November 1975 |pmid=1978 |doi= |url=}}</ref><br />
<br />
*Spindled cell [[stroma]] surrounding abortive tubules and [[Glomerulus|glomeruli]] is characteristic.<br />
*The stroma may include:<br />
**Striated [[muscle]] [[cartilage]]<br />
**[[bone]]<br />
**[[Adipose tissue|Fat tissue]]<br />
**[[Fibrous connective tissue|Fibrous tissue.]]<br />
|<br />
|-<br />
|2.<br />
|[[Renal cell carcinoma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* [[Ultrasound]] (US) may be helpful when CT scan results are equivocal. It is noteworthy to mention that not all renal cell [[carcinomas]] are detectable on [[ultrasound]].<br />
|Both [[CT]] and [[MRI]] may be used to detect [[neoplastic]] masses that may define renal cell carcinoma or metastasis of the primary cancer. [[CT]] scan and use of intravenous (IV) contrast is generally used for work-up and follow-up of patients with [[Renal cell carcinoma|renal cell carcinom]]<nowiki/>a.<br />
|The histological pattern of renal cell [[carcinoma]] depends whether it is [[Papillary|papillary,]] [[chromophobe]] or [[collecting duct]] renal cell carcinoma.<br />
|<br />
|-<br />
|3.<br />
|[[Malignant rhabdoid tumor|Rhabdoid kidney disease]]<br />
| +<br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* [[Ultrasound]] shows a complex cystic mass. <br />
|<br />
* [[CT]] scan may be diagnostic of malignant rhabdoid tumor. Findings on [[CT]] scan suggestive of malignant rhabdoid tumor include a large, heterogenous, centrally located mass, which is lobulated with individual lobules separated by intervening areas of decreased attenuation, relating to either previous [[hemorrhage]] or [[necrosis]]. Enhancement is similarly heterogeneous. [[Calcification]] is relatively common, observed in 20-50% of cases and is typically linear and tends to outline tumor [[lobules]].<br />
|<br />
* [[Malignant]] rhabdoid tumor is characterized by the round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of [[eosinophilic]] cytoplasm with frequent mitotic figures.<br />
|<br />
|-<br />
|4.<br />
|[[Polycystic kidney disease]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>+ (from hypertension)</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
Ultrasound may be helpful in the diagnosis of polycystic kidney disease. Findings on an ultrasound diagnostic of polycystic kidney disease include:<ref name="pmid25786098">{{cite journal |vauthors=Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, Harris T, Horie S, Kasiske BL, Odland D, Pei Y, Perrone RD, Pirson Y, Schrier RW, Torra R, Torres VE, Watnick T, Wheeler DC |title=Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference |journal=Kidney Int. |volume=88 |issue=1 |pages=17–27 |date=July 2015 |pmid=25786098 |pmc=4913350 |doi=10.1038/ki.2015.59 |url=}}</ref><ref name="pmid18945943">{{cite journal |vauthors=Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D |title=Unified criteria for ultrasonographic diagnosis of ADPKD |journal=J. Am. Soc. Nephrol. |volume=20 |issue=1 |pages=205–12 |date=January 2009 |pmid=18945943 |pmc=2615723 |doi=10.1681/ASN.2008050507 |url=}}</ref><br />
*At least three unilateral or bilateral [[cysts]] in patients 15 - 39 years old<br />
*Atleast two [[cysts]] in each [[kidney]] in patients 40 - 59 years old<br />
*Atleast four [[cysts]] in each [[kidney]] in patients 60 years of age or older<br />
|<br />
[[Renal]] CT scan may be helpful in the diagnosis of polycystic kidney disease. Findings on CT scan diagnostic of ADPKD include:<br />
* Numerous [[renal]] [[cysts]] of varying size and shape with little intervening [[parenchyma]] with water [[attenuation]] and very thin wall.<br />
* Reduction in [[sinus]] [[fat]] due to expansion of the [[cortex]]<br />
* Occasional complex [[cysts]] with hyperdense appearance, with possible septations or calcifications<br />
* Multiple [[homogeneous]] and hypoattenuating [[cystic]] lesions in the [[liver]] in patients with [[liver]] involvement<br />
|<br />
*On microscopic histopathological analysis, interstitial fibrosis, tubular atrophy, thickening and lamellation of tubular basement membranes, microcysts and negative immunofluorescence for complement and immunoglobulin are characteristic findings of ADPKD.<ref name="pmid12234310">{{cite journal |vauthors=Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC |title=Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families |journal=Kidney Int. |volume=62 |issue=4 |pages=1385–94 |date=October 2002 |pmid=12234310 |doi=10.1111/j.1523-1755.2002.kid581.x |url=}}</ref><ref name="pmid24509297">{{cite journal |vauthors=Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS |title=Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1 |journal=Clin J Am Soc Nephrol |volume=9 |issue=3 |pages=527–35 |date=March 2014 |pmid=24509297 |pmc=3944763 |doi=10.2215/CJN.06380613 |url=}}</ref><ref name="pmid21775974">{{cite journal |vauthors=Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D |title=Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood |journal=Kidney Int. |volume=80 |issue=7 |pages=768–76 |date=October 2011 |pmid=21775974 |doi=10.1038/ki.2011.225 |url=}}</ref><ref name="pmid20378641">{{cite journal |vauthors=Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R |title=Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases |journal=Clin J Am Soc Nephrol |volume=5 |issue=6 |pages=1079–90 |date=June 2010 |pmid=20378641 |pmc=2879303 |doi=10.2215/CJN.06810909 |url=}}</ref><br />
<br />
|<br />
|-<br />
|5.<br />
|[[Pheochromocytoma]]<br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+ (as a part of the hypertension paroxysm)</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* CT is the preferred imaging modality for the diagnosis of pheochromocytoma.<br />
|The following findings may be observed on [[CT scan]]:<ref name="pmid1787652">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652 }}</ref><br />
*Most common extra-[[Adrenal gland|adrenal]] locations are superior and inferior [[abdominal]] [[Paraaortic lymph node|paraaortic]] areas, the [[urinary bladder]], [[thorax]], [[head]], [[neck]] and [[pelvis]].<ref name="pmid1729490">{{cite journal| author=Whalen RK, Althausen AF, Daniels GH| title=Extra-adrenal pheochromocytoma. | journal=J Urol | year= 1992 | volume= 147 | issue= 1 | pages= 1-10 | pmid=1729490 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1729490 }}</ref><br />
<br />
*In sporadic pheochromocytoma, [[CT]] and [[MRI]] are good choices. The choice depends on availability and cost.<ref name="pmid191248172">{{cite journal| author=Baid SK, Lai EW, Wesley RA, Ling A, Timmers HJ, Adams KT et al.| title=Brief communication: radiographic contrast infusion and catecholamine release in patients with pheochromocytoma. | journal=Ann Intern Med | year= 2009 | volume= 150 | issue= 1 | pages= 27-32 | pmid=19124817 | doi= | pmc=3490128 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19124817 }}</ref><br />
*In patients with the [[multiple endocrine neoplasia]] type 2 ([[Multiple endocrine neoplasia type 2|MEN2]]) syndrome, [[CT]] may miss the [[tumors]].<ref name="pmid17876522">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652 }}</ref><br />
|<br />
* On microscopic pathology, [[Pheochromocytoma]] typically demonstrates a nesting (Zellballen) pattern on microscopy. This pattern is composed of well-defined clusters of tumor cells containing [[eosinophilic]] cytoplasm separated by fibrovascular [[stroma]].<br />
|<br />
|-<br />
|6.<br />
|[[Burkitt's lymphoma|Burkitt lymphoma]]<br />
|<nowiki>+/- (in non-endemic or sporadic form of the disease)</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
* Abdominal [[ultrasonography]] may show [[splenomegaly]] and [[ascites]].<br />
|<br />
* Chest, abdomen, and pelvis [[CT]] scan may be helpful in the diagnosis of [[Burkitt's lymphoma]] but it is not done routinely.<ref name="medlineplus">Burkitt lymphoma. MedlinePlus. https://www.nlm.nih.gov/medlineplus/ency/article/001308.htm Accessed on September 30, 2015</ref><br />
|<br />
*On microscopic histopathological analysis, characteristic findings of Burkitt's lymphoma include:<ref name="pmid12610094">{{cite journal |author=Bellan C, Lazzi S, De Falco G, Nyongo A, Giordano A, Leoncini L |title=Burkitt's lymphoma: new insights into molecular pathogenesis |journal=J. Clin. Pathol. |volume=56 |issue=3 |pages=188–92 |year=2003 |month=March |pmid=12610094 |pmc=1769902 |doi= |url=http://jcp.bmj.com/cgi/pmidlookup?view=long&pmid=12610094}}</ref><br />
:*Medium-sized (~1.5-2x the size of a RBC) with uniform size ("monotonous") -- '''key feature''' (i.e. tumor nuclei size similar to that of [[histiocytes]] or [[endothelial cells]])<br />
:*Round nucleus<br />
:*Small nucleoli<br />
:*Relatively abundant cytoplasm ([[basophilic]])<br />
:*Brisk mitotic rate and [[apoptotic]] activity<br />
:*Cellular outline usually appears squared off<br />
:*"Starry-sky pattern":<br />
::*The ''stars'' in the pattern are tingible-body macrophages (macrophages containing [[apoptotic]] tumor cells.<br />
::*The tumour cells are the ''sky''<br />
|<br />
|-<br />
|7.<br />
|[[Intussusception]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+/- </nowiki><br />
|<nowiki>+</nowiki><br />
|<br />
* [[Ultrasound]] is the [[Gold standard (test)|gold standard]] imaging modality used to diagnose intussusception<ref name="pmid17308922">{{cite journal |vauthors=Ko HS, Schenk JP, Tröger J, Rohrschneider WK |title=Current radiological management of intussusception in children |journal=Eur Radiol |volume=17 |issue=9 |pages=2411–21 |year=2007 |pmid=17308922 |doi=10.1007/s00330-007-0589-y |url=}}</ref><br />
**Target or doughnut sign<ref name="pmid8470658">{{cite journal |vauthors=Boyle MJ, Arkell LJ, Williams JT |title=Ultrasonic diagnosis of adult intussusception |journal=Am. J. Gastroenterol. |volume=88 |issue=4 |pages=617–8 |year=1993 |pmid=8470658 |doi= |url=}}</ref><br />
***Edematous intussuscipien forms an external ring around the centrally located intussusceptum<br />
***Target sign is usually seen in right lower quadrant<br />
**Layers of intussusception forms pseudo-kidney appearance on the transverse view<br />
|<br />
* [[Computed tomography|CT scan]] may be helpful in the [[diagnosis]] of intussusception. [[Computed tomography|CT scan]] maybe used when other image modalities like [[x-ray]] and [[ultrasound]] have not given positive results but suspicion of intussusception is high.<br />
|<br />
* Intussusception occurs if there is an imbalance between the longitudinal and radial [[smooth muscle]] forces of [[intestine]] that maintain its normal structure. This imbalance leads to a segment of [[intestine]] to invaginate into another segment and cause entero-enteral intussusception. [[Etiology]] of intussusception is either idiopathic or [[Pathology|pathologic]] (lead point). <br />
|<br />
|-<br />
|8.<br />
|[[Hydronephrosis]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+ (CVA tenderness in case of pyelonephritis)</nowiki><br />
|<br />
* [[Ultrasound]] allows for visualization of the [[ureters]] and [[kidneys]] and can be used to assess the presence of [[hydronephrosis]] and/or [[hydroureter]]. <br />
|<br />
* In the case of [[renal colic]] (one sided loin pain usually accompanied by a trace of blood in the urine) the initial investigation is usually an intravenous urogram. This has the advantage of showing whether there is any obstruction of flow of urine causing [[hydronephrosis]] as well as demonstrating the function of the other kidney. Many [[Stones- kidney|stones]] are not visible on [[X ray|plain x ray]] or IVU but 99% of [[Stones- kidney|stones]] are visible on [[CT]] and therefore CT is becoming a common choice of initial investigation.<br />
|<br />
* The kidney undergoes extensive dilation with atrophy and thinning of the renal cortex.<br />
|<br />
|-<br />
|9.<br />
|[[Dysplasia|Dysplastic kidney]]<br />
|N/A<br />
|N/A<br />
|N/A<br />
|N/A<br />
|N/A<br />
|<br />
MCDK is usually diagnosed by [[ultrasound]] examination before birth.<br />
* Mass of non-communicating cysts of variable size.<br />
* Unlike severe [[hydronephrosis]], in which the largest cystic structure (the renal pelvis) lies in a central location and is surrounded by dilated calices, in multicystic dysplastic kidney the cyst distribution shows no recognizable pattern.<br />
* [[Dysplasia|Dysplastic]], echogenic [[parenchyma]] may be visible between the cysts, but no normal renal parenchyma is seen.<br />
|<br />
* MCKD can be discovered accidentally on [[CT]] scan.<br />
* [[CT scan]] shows myltiple cysts with absence of renal parenchyma.<br />
|<br />
* MCKD is the result of abnormal differentiation of the renal parenchyma.<br />
|<br />
|-<br />
|10.<br />
|[[Neuroblastoma|Pediatric Neuroblastoma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<br />
* On ultrasound, neuroblastoma is characterized by a heterogeneous [[echogenicity]] due to the [[vascular]], [[necrotic]], and calcified content of the mass.<ref name="radio">Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015</ref><br />
|<br />
*CT scan is the investigation of choice for the diagnosis of neuroblastoma.<ref name="pmid21736987">{{cite journal| author=Colon NC, Chung DH| title=Neuroblastoma. | journal=Adv Pediatr | year= 2011 | volume= 58 | issue= 1 | pages= 297-311 | pmid=21736987 | doi=10.1016/j.yapd.2011.03.011 | pmc=PMC3668791 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21736987 }}</ref><br />
*On CT scan, neuroblastoma is characterized by:<ref name="radio2">Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015</ref><br />
:*Heterogeneous mass<br />
:*[[Calcification]]<br />
:*[[Necrosis]]<br />
:*Compression of the surrounding vessels<br />
:*Invasion of the [[psoas]] [[muscle]] or [[kidney]]s<br />
:*Swollen [[lymph node]]s<br />
|<br />
*On microscopic histopathological analysis the presence of round blue cells separated by thin [[fibrous]] septa are characteristic findings of neuroblastoma.<br />
*Other findings of neuroblastoma on [[light microscopy]] may include:<ref name="patho">Neuroblastoma. Libre Pathology(2015) http://librepathology.org/wiki/index.php/Adrenal_gland#Neuroblastoma Accessed on October, 5 2015</ref><br />
:*Homer-Wright rosettes (rosettes with a small meshwork of fibers at the center)<br />
:*Neuropil-like [[stroma]] (paucicellular stroma with a cotton candy-like appearance)<br />
*On [[electron microscopy]] neuroblastoma is characterized by:<br />
:*Dendritic processes with longitudinally oriented [[microtubule]]s<br />
:*Membrane bound electron-dense [[granule]]s that contain [[catecholamine]]s<br />
:*Presence of [[desmosomes]]<br />
:*Absence of [[glycogen]]<br />
|<br />
|-<br />
|11.<br />
|[[Rhabdomyosarcoma|Pediatric Rhabdomyosarcoma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+/-</nowiki><br />
|<br />
|On [[CT scan]], rhabdomyosarocma is characterized by:<br />
* Soft tissue density<br />
* Some enhancement with [[contrast]]<br />
* Adjacent bony destruction (over 20% of cases)<br />
|<br />
* Rhadbomyosarcoma has an appearance similar to the other round blue cell tumors such as [[Ewing sarcoma]] and [[Osteoblastoma|small cell osteoblastoma]].<br />
|<br />
|-<br />
|12.<br />
|[[Mesoblastic nephroma]]<br />
|<nowiki>+</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<nowiki>+</nowiki><br />
|<nowiki>-</nowiki><br />
|<br />
*[[Ultrasound]] may be helpful in the diagnosis of mesoblastic nephroma.<br />
*Mesoblastic nephroma may presents as a well-defined [[mass]] with low-level homogeneous echoes.<ref name="radio3">Mesoblastic nephroma.Dr Ayush Goel and Dr Yuranga Weerakkody et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/mesoblastic-nephroma</ref><br />
*The presence of concentric echogenic and hypoechoic rings can be a helpful diagnostic feature of [[mesoblastic nephroma]].<br />
|<br />
* [[CT scan]] may be helpful in the diagnosis of mesoblastic nephroma.<br />
* Findings on CT scan suggestive of mesoblastic nephroma include:<br />
:* Solid hypoattenuating renal lesion<br />
:* Variable contrast enhancement<br />
:* No [[calcification]]<br />
|<br />
Classic mesoblastic nephroma<br />
* [[Spindle cells]] in [[fascicles]]<br />
* Infiltrative border<br />
Cellular mesoblastic nephroma<br />
* Plump cells with vesicular nuclei<br />
* Well-defined border<br />
* Mitotically active<br />
Mixed mesoblastic nephroma<br />
* Both classic pattern and cellular pattern areas are present<br />
|Most common renal tumor that occurs in 1st month of life<br />
|}<br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Kidney diseases]]<br />
[[Category:Types of cancer]]<br />
[[Category:Urology]]<br />
[[Category:Pediatrics]]<br />
[[Category:Hematology]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Atopic_dermatitis_differential_diagnosis&diff=1545310
Atopic dermatitis differential diagnosis
2019-02-04T17:52:21Z
<p>Sargun Walia: /* Atopic Dermatitis from other Diseases */</p>
<hr />
<div>__NOTOC__<br />
{{Atopic dermatitis}}<br />
<br />
__NOTOC__<br />
<br />
{{CMG}}; {{AE}} {{S.S}}<br />
==Overview==<br />
Atopic dermatitis is a chronic [[inflammatory]] skin disorder, which is indistinguishable from other causes of dermatitis. Atopic dermatitis is usually associated with personal or [[family history]] of [[atopic diseases]] including [[asthma]], allergic rhinitis and [[food allergy]]. The most common clinically similar dermatitis in infancy is [[seborrheic dermatitis]] which includes [[hyperkeratosis]] of the [[Scalp rash|scalp]], also found in atopic dermatitis. <br />
<br />
==Atopic Dermatitis from other Diseases==<br />
{|<br />
! rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Category<br />
! rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Diseases<br />
! rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology<br />
! rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Inherited<br />
! rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Acquired<br />
! colspan="9" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Clinical manifestations<br />
! colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Para-clinical findings<br />
| colspan="2" rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Associated factors'''<br />
|-<br />
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Demography<br />
! colspan="5" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical examination<br />
|-<br />
! colspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab Findings<br />
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Histopathology<br />
|-<br />
! colspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Appearance<br />
! colspan="1" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Itching<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fever<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Tenderness<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Eosinophils<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum IgE <br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Single/<br />
Multiple<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Rash<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Involved areas<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Pustule<br />
|-<br />
! rowspan="10" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Skin disorders<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Atopic dermatitis]]<br />
| align="center" style="background:#F5F5F5;" |<br />
* Epidermal barrier dysfunction<br />
* [[Immune]] dysregulation<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Incidence]] is highest during [[infancy]] and early childhood.<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
*[[Erythema]], [[Exudate|exudates]], [[papules]],[[vesicles]], scales and crusts<br />
* Infiltrated [[erythema]], [[prurigo]], scales and crusts<br />
| align="center" style="background:#F5F5F5;" |<br />
* Young children -[[Scalp]], [[cheeks]] amd [[extensor]] surface<br />
* [[Adolescent|Adolescents]] -flexural areas and buttock-thigh creases<br />
* Adults - facial involvement and skin flexures <br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Centrofacial pallor<br />
* Delayed blanch response<br />
* [[Keratosis pilaris]]<br />
* Palmar hyperlinearity<br />
* [[Pityriasis alba]]<br />
* [[Ichthyosis]]<br />
<br />
* Infra-auricular and retro-auricular fissuring<br />
* Nipple [[eczema]]<br />
* White dermographism<br />
* Perifollicular accentuation<br />
| align="center" style="background:#F5F5F5;" | Nl to ↑<br />
<br />
([[Eosinophilia|Eosinophilia)]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" |<br />
* Epidermal psoriasiform [[hyperplasia]]<br />
* Marked intercellular [[edema]] with spongiotic vesiculation<br />
<br />
* [[Hyperkeratosis]]<br />
* Psoriasiform [[hyperplasia]]<br />
* Dyskeratosis<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* <br />
* [[Family history]] of [[atopic dermatitis]] or other [[atopy]]<br />
* Personal history of [[atopy]] ([[asthma]], [[allergic rhinitis]], [[food allergy]])<br />
* Active and passive exposure to [[tobacco]]<br />
|-<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Contact dermatitis|Allergic contact dermatitis]]<ref name="pmid19447733">{{cite journal |vauthors=Nosbaum A, Vocanson M, Rozieres A, Hennino A, Nicolas JF |title=Allergic and irritant contact dermatitis |journal=Eur J Dermatol |volume=19 |issue=4 |pages=325–32 |date=2009 |pmid=19447733 |doi=10.1684/ejd.2009.0686 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |<br />
* Delayed-type [[hypersensitivity]] response<br />
* Skin [[inflammation]] mediated by [[Haptens|hapten]]-specific T cells<br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |Any<br />
| align="center" style="background:#F5F5F5;" |May be multiple after 1-2 days of exposure<br />
| align="center" style="background:#F5F5F5;" | Erythematous well-demarcated [[papules]]<br />
| align="center" style="background:#F5F5F5;" | Surrounding the area in contact with the offending agent <br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |<br />
* Stinging and burning<br />
* Localized [[swelling]]<br />
* [[Lichenification|Lichenified]] [[Itch|pruritic]] [[plaques]]<br />
| align="center" style="background:#F5F5F5;" |Nl to ↑ <br />
([[Eosinophilia]])<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Eosinophilic]] spongiosis and [[microvesicles]]<br />
* [[Exocytosis]] of [[eosinophils]] and [[lymphocytes]] <br />
* Chronic - [[Hyperkeratosis]] and parakeratosis<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Contact with [[allergens]] in the past 1-2 days<br />
* Positive [[family history]]<br />
|-<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Contact dermatitis|Irritant contact dermatitis]]<ref name="pmid30293200">{{cite journal |vauthors=Bains SN, Nash P, Fonacier L |title=Irritant Contact Dermatitis |journal=Clin Rev Allergy Immunol |volume= |issue= |pages= |date=October 2018 |pmid=30293200 |doi=10.1007/s12016-018-8713-0 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |<br />
* Activation of the [[innate immune system]] by the pro-[[inflammatory]] properties of chemicals<br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |Any, more with occupational exposure <br />
| align="center" style="background:#F5F5F5;" |Usually single immediately after the exposure<br />
| align="center" style="background:#F5F5F5;" | Well-demarcated red patch with a glazed surface<br />
| align="center" style="background:#F5F5F5;" | Any area in contact with the irritant<br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Swelling]], [[Blister|blistering]] and scaling of the damaged area<br />
* Dryness<br />
* Thicker skin<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* Spongiosis<br />
* Intraepidermal [[vesicles]] or bullae<br />
* [[Necrosis]] of [[keratinocytes]]<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Cumulative exposure to [[irritants]]<br />
* Negative hypersensitivity tests<br />
|-<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Seborrheic dermatitis]]<br />
| align="center" style="background:#F5F5F5;" |<br />
* Not known<br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Any, onset during the infancy and peak during 3rd-4th decades<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Cradle cap]] - yellowish scales on the [[Scalp rash|scalp]]<br />
* Patchy or diffuse greasy scaling with or without a yellow-red base<br />
* Crusts<br />
| align="center" style="background:#F5F5F5;" | Scalp, face, trunk, postauricular, diaper area and axilla<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Infants:<br />
** [[Cradle cap]] (Sclap) - non-inflammatory greasy scales on the scalp<br />
** Asymptomatic<br />
** Self resolving<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* Focal parakeratosis and spongiosis in epidermis<br />
* Psoriasiform [[hyperplasia]]<br />
* [[Neutrophils]] at the margins<br />
| colspan="2" align="center" style="background:#F5F5F5;" |Risk factors include<br />
* [[Stress]]<br />
<br />
* Cold, dry weather can cause flare ups<br />
* [[Superinfection]] with bacteria and [[candida]]<br />
Generalized seborrheic [[erythroderma]] in immunodeficient patients<br />
|-<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Psoriasis]]<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Keratinocyte]] hyperproliferation<br />
* Dysregulation of the [[immune system]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Any, 2 peaks of onset 30-39 years and 50-59 years<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" | Well-circumscribed, pink [[papules]] and symmetrically distributed cutaneous [[plaques]] with silvery scales<br />
| align="center" style="background:#F5F5F5;" | <br />
* Scalp<br />
* Trunk<br />
* Gluteal cleft<br />
* Extensor surface of elbows and knees<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | _<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Auspitz's sign]] (pinpoint bleeding)<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Epidermal]] [[hyperplasia]]<br />
* Parakeratosis<br />
* [[Neutrophils]] microabscesses (Munro microabscesses)<br />
| colspan="2" align="center" style="background:#F5F5F5;" |Risk factors include<br />
* [[Smoking]]<br />
* Skin trauma<br />
* [[Alcohol abuse]]<br />
* [[Stress]]<br />
* Cold weather<br />
* Vitamin D deficiency <br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Lichen simplex chronicus|Lichen simplex]] <ref name="pmid28785363">{{cite journal |vauthors=Voicu C, Tebeica T, Zanardelli M, Mangarov H, Lotti T, Wollina U, Lotti J, França K, Batashki A, Tchernev G |title=Lichen Simplex Chronicus as an Essential Part of the Dermatologic Masquerade |journal=Open Access Maced J Med Sci |volume=5 |issue=4 |pages=556–557 |date=July 2017 |pmid=28785363 |pmc=5535688 |doi=10.3889/oamjms.2017.133 |url=}}</ref>[[Lichen simplex chronicus|chronicus]]<br />
| align="center" style="background:#F5F5F5;" |<br />
* Secondary to extensive [[pruritus]] due to other conditions such as [[Atopic dermatitis|atopic dermatitis,]] neuropathic pruritus, etc<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Any, peak at 30-50 years of age<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" | [[Lichenification|Lichenified]] and [[erythematous]], [[Itch|pruritic]] [[exudative]] [[Plaques|plaque]], and excoriations<br />
| align="center" style="background:#F5F5F5;" | Scalp, head, neck, hands, arms, and genitals areas<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Color of [[Plaques|plaque]] varies from yellow to reddish brown <br />
* [[Plaque]] size can vary between 3X6 cm 6X10 cm areas.<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* Markedly [[Hyperplasia|hyperplastic]] [[epidermis]] <br />
* Irregular [[hyperkeratosis]] and parakeratosis <br />
* Thick granular zone<br />
* [[Acanthosis]] <br />
| colspan="2" align="center" style="background:#F5F5F5;" |Risk factors include<br />
* [[Emotional stress]]<br />
* Dry weather<br />
* [[Sweating]]<br />
* [[Sexual dysfunction]] <br />
* [[Sleep disturbances]]<br />
* [[Depression]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Ichthyosis vulgaris]]<ref name="pmid23301728">{{cite journal |vauthors=Thyssen JP, Godoy-Gijon E, Elias PM |title=Ichthyosis vulgaris: the filaggrin mutation disease |journal=Br. J. Dermatol. |volume=168 |issue=6 |pages=1155–66 |date=June 2013 |pmid=23301728 |doi=10.1111/bjd.12219 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |<br />
* Loss of function [[mutations]] in the [[Filaggrin|filaggrin gene (''FLG'')]]<br />
* [[Autosomal dominant inheritance]] with [[incomplete penetrance]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Usually in infancy<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Xerosis]] and gray [[Ichthyosis|scaling]]<br />
* [[Palmar]] hyperlinearity <br />
* [[Keratosis pilaris]]<br />
| align="center" style="background:#F5F5F5;" | <br />
* Extensor surfaces of the extremities<br />
* Scalp<br />
* Trunk<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Scales can vary from mild scaling to large, plate (armor)-like scales and thickening of the skin.<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* Reduced keratohyalin [[granules]] <br />
* [[Perinuclear space|Perinuclear]] [[keratin]] retractions in [[Granule cell|granular]] cells<br />
* Thick [[stratum corneum]] <br />
* Basket-weave pattern of [[stratum corneum]]<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Increased risk of [[atopic diseases]] including [[asthma]], alllergic rhinitis and [[atopic dermatitis]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Nummular dermatitis|Nummular dermatitis (discoid eczema)]]<br />
| align="center" style="background:#F5F5F5;" | Unknown<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Any, two peaks, 6th-7th decade of life in males and 2nd-3rd decade of life in females<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Symmetrical coin-shaped [[Erythematous rash|erythematous]] [[plaques]]<br />
* Erosions and excoriations<br />
* Chronic lesions- central clearing leading to annular lesions<br />
| align="center" style="background:#F5F5F5;" |<br />
* Upper and lower extremities<br />
* Lower trunk<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Chronically [[lesions]] result into central clearing leading to annular lesions.<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* Spongiosis<br />
* [[Perivascular cell|Perivascular]] [[lymphocytic]] infiltrates, with [[eosinophils]] and occasional [[neutrophils]]<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Risk factors include<br />
** Temperature changes (particularly winter)<br />
** [[Emotional stress]]<br />
** [[Dry skin]]<br />
** Environmental irritants<br />
** Recent [[surgery]]<br />
** Medications like [[topical]] antibiotic creams and [[isotretinoin]] <br />
* [[Superinfection]] with ''[[staphylococcus aureus]]''<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Netherton's syndrome]]<ref name="pmid10835624">{{cite journal |vauthors=Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafé JL, Wilkinson J, Taïeb A, Barrandon Y, Harper JI, de Prost Y, Hovnanian A |title=Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome |journal=Nat. Genet. |volume=25 |issue=2 |pages=141–2 |date=June 2000 |pmid=10835624 |doi=10.1038/75977 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" | [[Autosomal recessive]] [[mutations]] in the [[SPINK5|serine protease inhibitor of Kazal type 5 gene (''SPINK5)'']]'', encoding [[LEKTI]]''[[LEKTI|, a serine protease inhibitor]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | Affects [[neonates]]<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Classic triad<br />
** Congenital ichthyosiform erythroderma<br />
** Trichorrhexis invaginata<br />
** [[Atopy|Allergic diseases]] with ↑ serum [[IgE]] levels<br />
* Ichthyosis linearis circumflexa (ILC) - [[serpiginous]] [[plaques]] with double scale at the margins<br />
| align="center" style="background:#F5F5F5;" |<br />
* Diffuse pattern<br />
* Axillae,<br />
* Hair<br />
* Inguinal folds<br />
* Gluteal cleft <br />
* Groin<br />
* Lower legs <br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Trichorrhexis invaginata (hair involvement):<br />
** Sparse, short, spike and brittle<br />
** "Bamboo hair" or "ball and socket deformity" of hair and eyebrows<br />
** Nodes along the hair shaft<br />
| align="center" style="background:#F5F5F5;" |Nl to ↑<br />
<br />
([[Eosinophilia]])<br />
| align="center" style="background:#F5F5F5;" | ↑ <br />
| align="center" style="background:#F5F5F5;" |<br />
* Psoriasiform [[hyperplasia]]<br />
* Reduced granular layer<br />
* Dyskeratosis <br />
* [[Dermal]] [[inflammatory]] infiltrate including [[neutrophils]] and [[eosinophils]]<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* [[Atopic diseases]] including asthma, [[atopic dermatitis]] and [[allergic rhinitis]]<br />
* Systemic and skin superinfections<br />
* [[Failure to thrive]]<br />
* Electrolyte imbalances, including [[hypernatremia]],[[dehydration]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Diseases<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Inherited<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Acquired<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Demography<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Single/<br />
Multiple<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Rash<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Involved areas<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Pustule<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Itching<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fever<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Tenderness<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |WBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum IgE<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Histopathology<br />
! colspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Associated factors<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Infection<br />
! align="center" style="background:#DCDCDC;" |[[Molluscum contagiosum]]<br />
| align="center" style="background:#F5F5F5;" | [[Molluscum contagiosum]] virus [[inoculation]] through direct skin contact<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Any, peak among children >5 years of age and young adults<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Flesh-colored, dome-shaped [[papules]] with a central umbilication<br />
* Lesions are 2-5mm in diameter<br />
| align="center" style="background:#F5F5F5;" |<br />
* Face, trunk, [[Antecubital fossa|antecubital]], [[Popliteal fossa|popliteal fossae]] and groin<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | If [[molluscum contagiosum]] is acquired as [[sexually transmitted disease]], it involves, groin and genital region. <br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Keratinocytes]] containing [[eosinophilic]] [[inclusion bodies]] (Henderson-Paterson bodies)<br />
* [[H&E stain]] - inwards indentation of the [[epidermis]] <br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Often [[asymptomatic]]<br />
* Self resolve within 2 months <br />
* Immunodeficient patients present with extensive and severe infections<br />
* [[Molluscum contagiosum]] lesions on the [[eyelid]] may lead to follicular or papillary [[conjunctivitis]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Immunologic disorders<br />
! align="center" style="background:#DCDCDC;" |[[Dermatitis herpetiformis]]<ref name="pmid22137227">{{cite journal |vauthors=Kárpáti S |title=Dermatitis herpetiformis |journal=Clin. Dermatol. |volume=30 |issue=1 |pages=56–9 |date=2012 |pmid=22137227 |doi=10.1016/j.clindermatol.2011.03.010 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" | [[Autoimmunity|Autoimmune]] disorder as a result of [[gluten sensitivity]] leading to the formation of [[IgA]] antibodies<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Any, mean age of disease onset is 2nd-4th decade<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Excoriated [[papules]], [[plaques]] and [[vesicles]] arranged in a clustered fashion<br />
* Symmetrical<br />
* Erosions and excoriations <br />
| align="center" style="background:#F5F5F5;" |<br />
* Extensor surfaces including arms, knees, and buttocks.<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Oral manifestation such as [[vesicles]] and erosion may be present<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Papillary]] micro-[[abscesses]]<br />
* Sub-epidermal [[blisters]] containing [[neutrophils]], [[eosinophils]], and [[fibrin]] <br />
* Sub-epidermal [[vacuolization]] <br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Intermittent [[Itch|pruritic]] [[papules]] and [[vesicles]]<br />
* [[Celiac disease]] with [[Villous folds|villous]] atrophy and [[Crypt (anatomy)|crypt]] [[hyperplasia]] <br />
* Abdominal [[bloating]], pain, [[Diarrheal|diarrhea]], or [[constipation]] <br />
|-<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Immune deficiency<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Wiskott-Aldrich syndrome]]<ref name="pmid24817816">{{cite journal |vauthors=Buchbinder D, Nugent DJ, Fillipovich AH |title=Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments |journal=Appl Clin Genet |volume=7 |issue= |pages=55–66 |date=2014 |pmid=24817816 |pmc=4012343 |doi=10.2147/TACG.S58444 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |<br />
* Mutation in the gene encoding for [[Wiskott-Aldrich syndrome]] protein (WASp) on the short arm of the [[X chromosome]]<br />
* [[X linked inheritance|X-linked disorder]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | Seen almost exclusively in males in infancy<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Rash is clinically similar to [[atopic dermatitis]]<br />
* [[Erythematous]] and [[Itch|pruritic]] lesions<br />
* Lesions can bleed due to [[thrombocytopenia]]<br />
* Cutaneous manifestations includes [[Petechia|petechiae]] and [[ecchymosis]]<br />
| align="center" style="background:#F5F5F5;" | Rash can involve lesions located at the same areas of classical atopic dermatitis:<br />
<br />
extensor surfaces of extremities and cheeks or scalp<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | Infants can present with [[petechiae]], prolonged [[bleeding]] from [[umbilicus]] or circumcision, [[purpura]],[[hematemesis]], [[melena]], [[epistaxis]], [[hematuria]] or unusal bruising<br />
| align="center" style="background:#F5F5F5;" |Nl to ↑<br />
<br />
([[Eosinophilia]])<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Hyperkeratosis]]<br />
* Psoriasiform [[hyperplasia]]<br />
* Dyskeratosis<br />
<br />
* Epidermal psoriasiform [[hyperplasia]]<br />
* Marked intercellular [[edema]] with spongiotic vesiculation<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* ↑ serum [[IgA]] levels <br />
* ↑ serum [[IgE]] levels<br />
* Bleeding: severe [[thrombocytopenia]],<br />
* [[Eczema]] - similar to [[atopic dermatitis]]<br />
* Recurrent sino-pulmonary infections<br />
* [[Opportunistic infection|Opportunistic infections.]]<br />
* [[Autoimmune diseases]]<br />
* [[Malignancies]]<br />
|-<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Hyper-IgE syndrome]]<ref name="pmid24058807">{{cite journal |vauthors=Mogensen TH |title=STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties |journal=JAKSTAT |volume=2 |issue=2 |pages=e23435 |date=April 2013 |pmid=24058807 |pmc=3710320 |doi=10.4161/jkst.23435 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |<br />
* Defects in the [[JAK-STAT signaling pathway]] leading to dysfunctional [[T helper cell]] type 17 ([[T helper 17 cell|Th17]]) [[differentiation]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | Rare, begin in infancy <br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Papulopustular<br />
* Severely [[Itch|pruritic]] eczematous rash <br />
* [[Pustular rash|Pustular]] and may impetiginized<br />
* [[Lichenification]] may occur<br />
| align="center" style="background:#F5F5F5;" |<br />
* Face and scalp<br />
* Upper trunk and shoulders <br />
* Buttocks<br />
* Area behind the ears and around the hairline<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Characteristic coarse facies<br />
* Increased alar width and broad [[nasal bridge]]<br />
* High-arched oral palate<br />
* Hyperextensible joints <br />
| align="center" style="background:#F5F5F5;" |Nl to ↑<br />
<br />
([[Eosinophilia]])<br />
| align="center" style="background:#F5F5F5;" | ↑ <br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Eosinophil]]-rich infiltration around the hair follicles<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Cold [[abscesses]]<br />
<br />
* [[Itch|Pruritic]] [[eczema]]<br />
* [[Allergy|Allergic]] diseases<br />
* Noneruption of permanent teeth<br />
* Multiple bone [[Bone fracture|fractures]] and scoliosisis<br />
* [[Peripheral T-cell lymphomas|Peripheral T-cell lymphoma]]<br />
* [[Coronary artery]] [[aneurysms]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Malignancy<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Mycosis fungoides]]<br />
| align="center" style="background:#F5F5F5;" | Clonal expansion of [[CD4+ cell|CD4]]<sup>+</sup> [[memory T cells]] (CD45RO<sup>+</sup>)<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Mean age is 55- 60 years<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Non-pruritic patches and intensely [[Itch|pruritic]] [[plaques]] <br />
* [[Comedones]], [[cysts]]<br />
* [[Tumors]] of skin<br />
* [[Erythematous]] [[macules]]<br />
* [[Hypopigmented area|Hypopigmented]] patches <br />
| align="center" style="background:#F5F5F5;" |<br />
* Asymmetrical<br />
* Hips, groin and trunk<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Alopecia]]<br />
* [[Acneiform eruption|Acneiform]] lesions<br />
* [[Plaques]] size can vary between 2-20 cm<br />
* [[Lymphadenopathy]]<br />
* Children- [[Hypopigmentation|hypopigmented]] patches most common<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* Perifollicular infiltrates around the [[infundibulum]] <br />
* [[Epidermis]] is spared or has minimal spongiosis<br />
* Band-like [[Dermal|derma]]<nowiki/>l infiltrate of [[lymphocytes]] and and [[histiocytes]]<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Increased risk of :<br />
** Severe viral and bacterial infections<br />
** Secondary [[malignancies]], especially lymphomas<br />
* Staging of [[Mycosis fungoides]] is based upon:<br />
** Patches<br />
** [[Plaques]]<br />
** Skin tumors<br />
** [[Lymphadenopathy]]<br />
** [[Erythroderma]]<br />
** [[Histology]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Category<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Diseases<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Inherited<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Acquired<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Demography<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Single/<br />
Multiple<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Rash<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Involved areas<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Pustule<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Itching<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fever<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Tenderness<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |WBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum IgE<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Histopathology<br />
! colspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Associated factors<br />
|}<br />
<br />
==References==<br />
<br />
{{Reflist|2}}<br />
<br />
[[Category:Autoimmune diseases]]<br />
[[Category:Dermatology]]<br />
[[Category:Needs content]]<br />
[[Category:Primary care]]<br />
<br />
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{{WikiDoc Sources}}</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Atopic_dermatitis_differential_diagnosis&diff=1545306
Atopic dermatitis differential diagnosis
2019-02-04T17:50:37Z
<p>Sargun Walia: /* Atopic Dermatitis from other Diseases */</p>
<hr />
<div>__NOTOC__<br />
{{Atopic dermatitis}}<br />
<br />
__NOTOC__<br />
<br />
{{CMG}}; {{AE}} {{S.S}}<br />
==Overview==<br />
Atopic dermatitis is a chronic [[inflammatory]] skin disorder, which is indistinguishable from other causes of dermatitis. Atopic dermatitis is usually associated with personal or [[family history]] of [[atopic diseases]] including [[asthma]], allergic rhinitis and [[food allergy]]. The most common clinically similar dermatitis in infancy is [[seborrheic dermatitis]] which includes [[hyperkeratosis]] of the [[Scalp rash|scalp]], also found in atopic dermatitis. <br />
<br />
==Atopic Dermatitis from other Diseases==<br />
<br />
{| class="wikitable"<br />
|+<br />
! colspan="4" |<br />
|-<br />
|bnfmhfj,g ,jgh,kh .kh ,kh<br />
|<br />
|<br />
|<br />
|-<br />
|<nowiki>|</nowiki>[[File:Human tongue infected with oral candidiasis--By James Heilman, MD - Own work, CC BY-SA 3.0, httpscommons.wikimedia.orgwindex.phpcurid=11717223.jpg|thumb|Tongue infected with oral candidiasis - By James Heilman, MD - Own work, CC BY-SA 3.0, httpscommons.wikimedia.orgwindex.phpcurid=11717223.jpg|400x400px]]<br />
|<br />
|<br />
|<br />
|-<br />
|<br />
|<br />
|<br />
|<br />
|}<br />
{|<br />
! rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Category<br />
! rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Diseases<br />
! rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology<br />
! rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Inherited<br />
! rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Acquired<br />
! colspan="9" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Clinical manifestations<br />
! colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Para-clinical findings<br />
| colspan="2" rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Associated factors'''<br />
|-<br />
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Demography<br />
! colspan="5" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical examination<br />
|-<br />
! colspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab Findings<br />
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Histopathology<br />
|-<br />
! colspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Appearance<br />
! colspan="1" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Itching<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fever<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Tenderness<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Eosinophils<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum IgE <br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Single/<br />
Multiple<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Rash<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Involved areas<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Pustule<br />
|-<br />
! rowspan="10" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Skin disorders<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Atopic dermatitis]]<br />
| align="center" style="background:#F5F5F5;" |<br />
* Epidermal barrier dysfunction<br />
* [[Immune]] dysregulation<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Incidence]] is highest during [[infancy]] and early childhood.<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
*[[Erythema]], [[Exudate|exudates]], [[papules]],[[vesicles]], scales and crusts<br />
* Infiltrated [[erythema]], [[prurigo]], scales and crusts<br />
| align="center" style="background:#F5F5F5;" |<br />
* Young children -[[Scalp]], [[cheeks]] amd [[extensor]] surface<br />
* [[Adolescent|Adolescents]] -flexural areas and buttock-thigh creases<br />
* Adults - facial involvement and skin flexures <br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Centrofacial pallor<br />
* Delayed blanch response<br />
* [[Keratosis pilaris]]<br />
* Palmar hyperlinearity<br />
* [[Pityriasis alba]]<br />
* [[Ichthyosis]]<br />
<br />
* Infra-auricular and retro-auricular fissuring<br />
* Nipple [[eczema]]<br />
* White dermographism<br />
* Perifollicular accentuation<br />
| align="center" style="background:#F5F5F5;" | Nl to ↑<br />
<br />
([[Eosinophilia|Eosinophilia)]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" |<br />
* Epidermal psoriasiform [[hyperplasia]]<br />
* Marked intercellular [[edema]] with spongiotic vesiculation<br />
<br />
* [[Hyperkeratosis]]<br />
* Psoriasiform [[hyperplasia]]<br />
* Dyskeratosis<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* <br />
* [[Family history]] of [[atopic dermatitis]] or other [[atopy]]<br />
* Personal history of [[atopy]] ([[asthma]], [[allergic rhinitis]], [[food allergy]])<br />
* Active and passive exposure to [[tobacco]]<br />
|-<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Contact dermatitis|Allergic contact dermatitis]]<ref name="pmid19447733">{{cite journal |vauthors=Nosbaum A, Vocanson M, Rozieres A, Hennino A, Nicolas JF |title=Allergic and irritant contact dermatitis |journal=Eur J Dermatol |volume=19 |issue=4 |pages=325–32 |date=2009 |pmid=19447733 |doi=10.1684/ejd.2009.0686 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |<br />
* Delayed-type [[hypersensitivity]] response<br />
* Skin [[inflammation]] mediated by [[Haptens|hapten]]-specific T cells<br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |Any<br />
| align="center" style="background:#F5F5F5;" |May be multiple after 1-2 days of exposure<br />
| align="center" style="background:#F5F5F5;" | Erythematous well-demarcated [[papules]]<br />
| align="center" style="background:#F5F5F5;" | Surrounding the area in contact with the offending agent <br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |<br />
* Stinging and burning<br />
* Localized [[swelling]]<br />
* [[Lichenification|Lichenified]] [[Itch|pruritic]] [[plaques]]<br />
| align="center" style="background:#F5F5F5;" |Nl to ↑ <br />
([[Eosinophilia]])<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Eosinophilic]] spongiosis and [[microvesicles]]<br />
* [[Exocytosis]] of [[eosinophils]] and [[lymphocytes]] <br />
* Chronic - [[Hyperkeratosis]] and parakeratosis<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Contact with [[allergens]] in the past 1-2 days<br />
* Positive [[family history]]<br />
|-<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Contact dermatitis|Irritant contact dermatitis]]<ref name="pmid30293200">{{cite journal |vauthors=Bains SN, Nash P, Fonacier L |title=Irritant Contact Dermatitis |journal=Clin Rev Allergy Immunol |volume= |issue= |pages= |date=October 2018 |pmid=30293200 |doi=10.1007/s12016-018-8713-0 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |<br />
* Activation of the [[innate immune system]] by the pro-[[inflammatory]] properties of chemicals<br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |Any, more with occupational exposure <br />
| align="center" style="background:#F5F5F5;" |Usually single immediately after the exposure<br />
| align="center" style="background:#F5F5F5;" | Well-demarcated red patch with a glazed surface<br />
| align="center" style="background:#F5F5F5;" | Any area in contact with the irritant<br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Swelling]], [[Blister|blistering]] and scaling of the damaged area<br />
* Dryness<br />
* Thicker skin<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* Spongiosis<br />
* Intraepidermal [[vesicles]] or bullae<br />
* [[Necrosis]] of [[keratinocytes]]<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Cumulative exposure to [[irritants]]<br />
* Negative hypersensitivity tests<br />
|-<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Seborrheic dermatitis]]<br />
| align="center" style="background:#F5F5F5;" |<br />
* Not known<br />
| align="center" style="background:#F5F5F5;" |–<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Any, onset during the infancy and peak during 3rd-4th decades<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Cradle cap]] - yellowish scales on the [[Scalp rash|scalp]]<br />
* Patchy or diffuse greasy scaling with or without a yellow-red base<br />
* Crusts<br />
| align="center" style="background:#F5F5F5;" | Scalp, face, trunk, postauricular, diaper area and axilla<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Infants:<br />
** [[Cradle cap]] (Sclap) - non-inflammatory greasy scales on the scalp<br />
** Asymptomatic<br />
** Self resolving<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* Focal parakeratosis and spongiosis in epidermis<br />
* Psoriasiform [[hyperplasia]]<br />
* [[Neutrophils]] at the margins<br />
| colspan="2" align="center" style="background:#F5F5F5;" |Risk factors include<br />
* [[Stress]]<br />
<br />
* Cold, dry weather can cause flare ups<br />
* [[Superinfection]] with bacteria and [[candida]]<br />
Generalized seborrheic [[erythroderma]] in immunodeficient patients<br />
|-<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Psoriasis]]<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Keratinocyte]] hyperproliferation<br />
* Dysregulation of the [[immune system]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Any, 2 peaks of onset 30-39 years and 50-59 years<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" | Well-circumscribed, pink [[papules]] and symmetrically distributed cutaneous [[plaques]] with silvery scales<br />
| align="center" style="background:#F5F5F5;" | <br />
* Scalp<br />
* Trunk<br />
* Gluteal cleft<br />
* Extensor surface of elbows and knees<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | _<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Auspitz's sign]] (pinpoint bleeding)<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Epidermal]] [[hyperplasia]]<br />
* Parakeratosis<br />
* [[Neutrophils]] microabscesses (Munro microabscesses)<br />
| colspan="2" align="center" style="background:#F5F5F5;" |Risk factors include<br />
* [[Smoking]]<br />
* Skin trauma<br />
* [[Alcohol abuse]]<br />
* [[Stress]]<br />
* Cold weather<br />
* Vitamin D deficiency <br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Lichen simplex chronicus|Lichen simplex]] <ref name="pmid28785363">{{cite journal |vauthors=Voicu C, Tebeica T, Zanardelli M, Mangarov H, Lotti T, Wollina U, Lotti J, França K, Batashki A, Tchernev G |title=Lichen Simplex Chronicus as an Essential Part of the Dermatologic Masquerade |journal=Open Access Maced J Med Sci |volume=5 |issue=4 |pages=556–557 |date=July 2017 |pmid=28785363 |pmc=5535688 |doi=10.3889/oamjms.2017.133 |url=}}</ref>[[Lichen simplex chronicus|chronicus]]<br />
| align="center" style="background:#F5F5F5;" |<br />
* Secondary to extensive [[pruritus]] due to other conditions such as [[Atopic dermatitis|atopic dermatitis,]] neuropathic pruritus, etc<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Any, peak at 30-50 years of age<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" | [[Lichenification|Lichenified]] and [[erythematous]], [[Itch|pruritic]] [[exudative]] [[Plaques|plaque]], and excoriations<br />
| align="center" style="background:#F5F5F5;" | Scalp, head, neck, hands, arms, and genitals areas<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Color of [[Plaques|plaque]] varies from yellow to reddish brown <br />
* [[Plaque]] size can vary between 3X6 cm 6X10 cm areas.<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* Markedly [[Hyperplasia|hyperplastic]] [[epidermis]] <br />
* Irregular [[hyperkeratosis]] and parakeratosis <br />
* Thick granular zone<br />
* [[Acanthosis]] <br />
| colspan="2" align="center" style="background:#F5F5F5;" |Risk factors include<br />
* [[Emotional stress]]<br />
* Dry weather<br />
* [[Sweating]]<br />
* [[Sexual dysfunction]] <br />
* [[Sleep disturbances]]<br />
* [[Depression]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Ichthyosis vulgaris]]<ref name="pmid23301728">{{cite journal |vauthors=Thyssen JP, Godoy-Gijon E, Elias PM |title=Ichthyosis vulgaris: the filaggrin mutation disease |journal=Br. J. Dermatol. |volume=168 |issue=6 |pages=1155–66 |date=June 2013 |pmid=23301728 |doi=10.1111/bjd.12219 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |<br />
* Loss of function [[mutations]] in the [[Filaggrin|filaggrin gene (''FLG'')]]<br />
* [[Autosomal dominant inheritance]] with [[incomplete penetrance]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Usually in infancy<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Xerosis]] and gray [[Ichthyosis|scaling]]<br />
* [[Palmar]] hyperlinearity <br />
* [[Keratosis pilaris]]<br />
| align="center" style="background:#F5F5F5;" | <br />
* Extensor surfaces of the extremities<br />
* Scalp<br />
* Trunk<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Scales can vary from mild scaling to large, plate (armor)-like scales and thickening of the skin.<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* Reduced keratohyalin [[granules]] <br />
* [[Perinuclear space|Perinuclear]] [[keratin]] retractions in [[Granule cell|granular]] cells<br />
* Thick [[stratum corneum]] <br />
* Basket-weave pattern of [[stratum corneum]]<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Increased risk of [[atopic diseases]] including [[asthma]], alllergic rhinitis and [[atopic dermatitis]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Nummular dermatitis|Nummular dermatitis (discoid eczema)]]<br />
| align="center" style="background:#F5F5F5;" | Unknown<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Any, two peaks, 6th-7th decade of life in males and 2nd-3rd decade of life in females<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Symmetrical coin-shaped [[Erythematous rash|erythematous]] [[plaques]]<br />
* Erosions and excoriations<br />
* Chronic lesions- central clearing leading to annular lesions<br />
| align="center" style="background:#F5F5F5;" |<br />
* Upper and lower extremities<br />
* Lower trunk<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Chronically [[lesions]] result into central clearing leading to annular lesions.<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* Spongiosis<br />
* [[Perivascular cell|Perivascular]] [[lymphocytic]] infiltrates, with [[eosinophils]] and occasional [[neutrophils]]<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Risk factors include<br />
** Temperature changes (particularly winter)<br />
** [[Emotional stress]]<br />
** [[Dry skin]]<br />
** Environmental irritants<br />
** Recent [[surgery]]<br />
** Medications like [[topical]] antibiotic creams and [[isotretinoin]] <br />
* [[Superinfection]] with ''[[staphylococcus aureus]]''<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Netherton's syndrome]]<ref name="pmid10835624">{{cite journal |vauthors=Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafé JL, Wilkinson J, Taïeb A, Barrandon Y, Harper JI, de Prost Y, Hovnanian A |title=Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome |journal=Nat. Genet. |volume=25 |issue=2 |pages=141–2 |date=June 2000 |pmid=10835624 |doi=10.1038/75977 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" | [[Autosomal recessive]] [[mutations]] in the [[SPINK5|serine protease inhibitor of Kazal type 5 gene (''SPINK5)'']]'', encoding [[LEKTI]]''[[LEKTI|, a serine protease inhibitor]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | Affects [[neonates]]<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Classic triad<br />
** Congenital ichthyosiform erythroderma<br />
** Trichorrhexis invaginata<br />
** [[Atopy|Allergic diseases]] with ↑ serum [[IgE]] levels<br />
* Ichthyosis linearis circumflexa (ILC) - [[serpiginous]] [[plaques]] with double scale at the margins<br />
| align="center" style="background:#F5F5F5;" |<br />
* Diffuse pattern<br />
* Axillae,<br />
* Hair<br />
* Inguinal folds<br />
* Gluteal cleft <br />
* Groin<br />
* Lower legs <br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Trichorrhexis invaginata (hair involvement):<br />
** Sparse, short, spike and brittle<br />
** "Bamboo hair" or "ball and socket deformity" of hair and eyebrows<br />
** Nodes along the hair shaft<br />
| align="center" style="background:#F5F5F5;" |Nl to ↑<br />
<br />
([[Eosinophilia]])<br />
| align="center" style="background:#F5F5F5;" | ↑ <br />
| align="center" style="background:#F5F5F5;" |<br />
* Psoriasiform [[hyperplasia]]<br />
* Reduced granular layer<br />
* Dyskeratosis <br />
* [[Dermal]] [[inflammatory]] infiltrate including [[neutrophils]] and [[eosinophils]]<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* [[Atopic diseases]] including asthma, [[atopic dermatitis]] and [[allergic rhinitis]]<br />
* Systemic and skin superinfections<br />
* [[Failure to thrive]]<br />
* Electrolyte imbalances, including [[hypernatremia]],[[dehydration]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Diseases<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Inherited<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Acquired<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Demography<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Single/<br />
Multiple<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Rash<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Involved areas<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Pustule<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Itching<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fever<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Tenderness<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |WBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum IgE<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Histopathology<br />
! colspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Associated factors<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Infection<br />
! align="center" style="background:#DCDCDC;" |[[Molluscum contagiosum]]<br />
| align="center" style="background:#F5F5F5;" | [[Molluscum contagiosum]] virus [[inoculation]] through direct skin contact<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Any, peak among children >5 years of age and young adults<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Flesh-colored, dome-shaped [[papules]] with a central umbilication<br />
* Lesions are 2-5mm in diameter<br />
| align="center" style="background:#F5F5F5;" |<br />
* Face, trunk, [[Antecubital fossa|antecubital]], [[Popliteal fossa|popliteal fossae]] and groin<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | If [[molluscum contagiosum]] is acquired as [[sexually transmitted disease]], it involves, groin and genital region. <br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Keratinocytes]] containing [[eosinophilic]] [[inclusion bodies]] (Henderson-Paterson bodies)<br />
* [[H&E stain]] - inwards indentation of the [[epidermis]] <br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Often [[asymptomatic]]<br />
* Self resolve within 2 months <br />
* Immunodeficient patients present with extensive and severe infections<br />
* [[Molluscum contagiosum]] lesions on the [[eyelid]] may lead to follicular or papillary [[conjunctivitis]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Immunologic disorders<br />
! align="center" style="background:#DCDCDC;" |[[Dermatitis herpetiformis]]<ref name="pmid22137227">{{cite journal |vauthors=Kárpáti S |title=Dermatitis herpetiformis |journal=Clin. Dermatol. |volume=30 |issue=1 |pages=56–9 |date=2012 |pmid=22137227 |doi=10.1016/j.clindermatol.2011.03.010 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" | [[Autoimmunity|Autoimmune]] disorder as a result of [[gluten sensitivity]] leading to the formation of [[IgA]] antibodies<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Any, mean age of disease onset is 2nd-4th decade<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Excoriated [[papules]], [[plaques]] and [[vesicles]] arranged in a clustered fashion<br />
* Symmetrical<br />
* Erosions and excoriations <br />
| align="center" style="background:#F5F5F5;" |<br />
* Extensor surfaces including arms, knees, and buttocks.<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Oral manifestation such as [[vesicles]] and erosion may be present<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Papillary]] micro-[[abscesses]]<br />
* Sub-epidermal [[blisters]] containing [[neutrophils]], [[eosinophils]], and [[fibrin]] <br />
* Sub-epidermal [[vacuolization]] <br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Intermittent [[Itch|pruritic]] [[papules]] and [[vesicles]]<br />
* [[Celiac disease]] with [[Villous folds|villous]] atrophy and [[Crypt (anatomy)|crypt]] [[hyperplasia]] <br />
* Abdominal [[bloating]], pain, [[Diarrheal|diarrhea]], or [[constipation]] <br />
|-<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Immune deficiency<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Wiskott-Aldrich syndrome]]<ref name="pmid24817816">{{cite journal |vauthors=Buchbinder D, Nugent DJ, Fillipovich AH |title=Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments |journal=Appl Clin Genet |volume=7 |issue= |pages=55–66 |date=2014 |pmid=24817816 |pmc=4012343 |doi=10.2147/TACG.S58444 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |<br />
* Mutation in the gene encoding for [[Wiskott-Aldrich syndrome]] protein (WASp) on the short arm of the [[X chromosome]]<br />
* [[X linked inheritance|X-linked disorder]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | Seen almost exclusively in males in infancy<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Rash is clinically similar to [[atopic dermatitis]]<br />
* [[Erythematous]] and [[Itch|pruritic]] lesions<br />
* Lesions can bleed due to [[thrombocytopenia]]<br />
* Cutaneous manifestations includes [[Petechia|petechiae]] and [[ecchymosis]]<br />
| align="center" style="background:#F5F5F5;" | Rash can involve lesions located at the same areas of classical atopic dermatitis:<br />
<br />
extensor surfaces of extremities and cheeks or scalp<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | Infants can present with [[petechiae]], prolonged [[bleeding]] from [[umbilicus]] or circumcision, [[purpura]],[[hematemesis]], [[melena]], [[epistaxis]], [[hematuria]] or unusal bruising<br />
| align="center" style="background:#F5F5F5;" |Nl to ↑<br />
<br />
([[Eosinophilia]])<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Hyperkeratosis]]<br />
* Psoriasiform [[hyperplasia]]<br />
* Dyskeratosis<br />
<br />
* Epidermal psoriasiform [[hyperplasia]]<br />
* Marked intercellular [[edema]] with spongiotic vesiculation<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* ↑ serum [[IgA]] levels <br />
* ↑ serum [[IgE]] levels<br />
* Bleeding: severe [[thrombocytopenia]],<br />
* [[Eczema]] - similar to [[atopic dermatitis]]<br />
* Recurrent sino-pulmonary infections<br />
* [[Opportunistic infection|Opportunistic infections.]]<br />
* [[Autoimmune diseases]]<br />
* [[Malignancies]]<br />
|-<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Hyper-IgE syndrome]]<ref name="pmid24058807">{{cite journal |vauthors=Mogensen TH |title=STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties |journal=JAKSTAT |volume=2 |issue=2 |pages=e23435 |date=April 2013 |pmid=24058807 |pmc=3710320 |doi=10.4161/jkst.23435 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |<br />
* Defects in the [[JAK-STAT signaling pathway]] leading to dysfunctional [[T helper cell]] type 17 ([[T helper 17 cell|Th17]]) [[differentiation]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | Rare, begin in infancy <br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Papulopustular<br />
* Severely [[Itch|pruritic]] eczematous rash <br />
* [[Pustular rash|Pustular]] and may impetiginized<br />
* [[Lichenification]] may occur<br />
| align="center" style="background:#F5F5F5;" |<br />
* Face and scalp<br />
* Upper trunk and shoulders <br />
* Buttocks<br />
* Area behind the ears and around the hairline<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* Characteristic coarse facies<br />
* Increased alar width and broad [[nasal bridge]]<br />
* High-arched oral palate<br />
* Hyperextensible joints <br />
| align="center" style="background:#F5F5F5;" |Nl to ↑<br />
<br />
([[Eosinophilia]])<br />
| align="center" style="background:#F5F5F5;" | ↑ <br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Eosinophil]]-rich infiltration around the hair follicles<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Cold [[abscesses]]<br />
<br />
* [[Itch|Pruritic]] [[eczema]]<br />
* [[Allergy|Allergic]] diseases<br />
* Noneruption of permanent teeth<br />
* Multiple bone [[Bone fracture|fractures]] and scoliosisis<br />
* [[Peripheral T-cell lymphomas|Peripheral T-cell lymphoma]]<br />
* [[Coronary artery]] [[aneurysms]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Malignancy<br />
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Mycosis fungoides]]<br />
| align="center" style="background:#F5F5F5;" | Clonal expansion of [[CD4+ cell|CD4]]<sup>+</sup> [[memory T cells]] (CD45RO<sup>+</sup>)<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Mean age is 55- 60 years<br />
| align="center" style="background:#F5F5F5;" | Multiple<br />
| align="center" style="background:#F5F5F5;" |<br />
* Non-pruritic patches and intensely [[Itch|pruritic]] [[plaques]] <br />
* [[Comedones]], [[cysts]]<br />
* [[Tumors]] of skin<br />
* [[Erythematous]] [[macules]]<br />
* [[Hypopigmented area|Hypopigmented]] patches <br />
| align="center" style="background:#F5F5F5;" |<br />
* Asymmetrical<br />
* Hips, groin and trunk<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" | –<br />
| align="center" style="background:#F5F5F5;" |<br />
* [[Alopecia]]<br />
* [[Acneiform eruption|Acneiform]] lesions<br />
* [[Plaques]] size can vary between 2-20 cm<br />
* [[Lymphadenopathy]]<br />
* Children- [[Hypopigmentation|hypopigmented]] patches most common<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" |<br />
* Perifollicular infiltrates around the [[infundibulum]] <br />
* [[Epidermis]] is spared or has minimal spongiosis<br />
* Band-like [[Dermal|derma]]<nowiki/>l infiltrate of [[lymphocytes]] and and [[histiocytes]]<br />
| colspan="2" align="center" style="background:#F5F5F5;" |<br />
* Increased risk of :<br />
** Severe viral and bacterial infections<br />
** Secondary [[malignancies]], especially lymphomas<br />
* Staging of [[Mycosis fungoides]] is based upon:<br />
** Patches<br />
** [[Plaques]]<br />
** Skin tumors<br />
** [[Lymphadenopathy]]<br />
** [[Erythroderma]]<br />
** [[Histology]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Category<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Diseases<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Inherited<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Acquired<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Demography<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Single/<br />
Multiple<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Rash<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Involved areas<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Pustule<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Itching<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fever<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Tenderness<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |WBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum IgE<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Histopathology<br />
! colspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Associated factors<br />
|}<br />
<br />
==References==<br />
<br />
{{Reflist|2}}<br />
<br />
[[Category:Autoimmune diseases]]<br />
[[Category:Dermatology]]<br />
[[Category:Needs content]]<br />
[[Category:Primary care]]<br />
<br />
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{{WikiDoc Sources}}</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Iron_deficiency_anemia_differential_diagnosis&diff=1544362
Iron deficiency anemia differential diagnosis
2019-01-31T20:09:33Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Iron deficiency anemia}}<br />
{{CMG}}; '''Associate Editor(s)-In-Chief:''' {{AE}}{{SSW}},{{VKG}} <br />
<br />
{{PleaseHelp}}<br />
<br />
==Overview==<br />
[[Iron deficiency anemia]] and [[Thalassemia Minor]] present with many of the same lab results. It is very important not to treat a patient with Thalassemia with an iron supplement as this can lead to [[hemochromatosis]] (accumulation of iron in the liver) A hemoglobin [[electrophoresis]] would provide useful evidence in distinguishing these two conditions, along with iron studies.<br />
<br />
==Differential Diagnosis==<br />
<br />
{| <br />
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Clinical manifestation<br />
! colspan="12" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab findings<br />
|-<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms <br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Iron studies<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin or TIBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Transferrin saturation<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Iron deficiency anemia]]<ref name="pmid25946282">{{cite journal |vauthors=Camaschella C |title=Iron-deficiency anemia |journal=N. Engl. J. Med. |volume=372 |issue=19 |pages=1832–43 |date=May 2015 |pmid=25946282 |doi=10.1056/NEJMra1401038 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Menorrhagia]]<br />
* [[GI]] loss<br />
* [[Gastrointestinal tract|GI]] surgery<br />
* [[Pregnancy]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Koilonychia]]<br />
* [[Pica]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Glossitis]]<br />
* [[Cheilosis]] <br />
* [[Dysphagia]]<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl or ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↓↓↓<br />
| align="left" style="background:#F5F5F5;" | <br />
* Central [[pallor]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Iron deficiency anemia]] (early phase)<ref name="pmid24972460">{{cite journal |vauthors=De Andrade Cairo RC, Rodrigues Silva L, Carneiro Bustani N, Ferreira Marques CD |title=Iron deficiency anemia in adolescents; a literature review |journal=Nutr Hosp |volume=29 |issue=6 |pages=1240–9 |date=June 2014 |pmid=24972460 |doi=10.3305/nh.2014.29.6.7245 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Pica]]<br />
* [[Glossitis]]<br />
* [[Angular cheilitis|Cheilosis]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Fatigue]]<br />
* [[Headache]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Koilonychia]]<br />
* Conjunctival [[pallor]]<br />
* [[Xeroderma|Dry skin]]<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="left" style="background:#F5F5F5;" | <br />
* Pencil [[Cell (biology)|cells]]<br />
* [[Hereditary elliptocytosis|Elliptocytosis]]<br />
* Hypochromasia<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Lead poisoning]]<ref name="pmid25220013">{{cite journal |vauthors=Bain BJ |title=Lead poisoning |journal=Am. J. Hematol. |volume=89 |issue=12 |pages=1141 |date=December 2014 |pmid=25220013 |doi=10.1002/ajh.23852 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* House painted with chipped paint<br />
| align="left" style="background:#F5F5F5;" | <br />
* Burtonian lines<br />
* [[Basophilic]] [[Stippling (dentistry)|stippling]]<br />
* [[Wrist drop]]<br />
* [[Foot drop]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Wrist drop]]<br />
* [[Foot drop]]<br />
* Burtonian lines<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Intravascular|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl or ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl to ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl to ↓<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Red blood cell|RBCs]] retain aggregates of [[Ribosomal RNA|rRNA]]<br />
* Basophilic stippling<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Sideroblastic anemia]]<ref name="pmid25064706">{{cite journal |vauthors=Bottomley SS, Fleming MD |title=Sideroblastic anemia: diagnosis and management |journal=Hematol. Oncol. Clin. North Am. |volume=28 |issue=4 |pages=653–70, v |date=August 2014 |pmid=25064706 |doi=10.1016/j.hoc.2014.04.008 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* Defect in [[ALA synthase]] gene<br />
* [[Autosomal dominant]]<br />
* [[Autosomal recessive]] <br />
* [[X-linked]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Alcohol]] abuse <br />
* [[Isoniazid]] use<br />
* [[Chloramphenicol]] use <br />
* Lead poisoning<br />
* [[Idiopathic]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Seborrheic dermatitis]]<br />
* Glossy Tongue<br />
* [[Tingling]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Patient present with symptoms of [[Vitamin B6]], [[copper deficiency]] symptoms <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl or ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl to ↓<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Ringed [[Sideroblastic|sideroblasts]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Anemia of chronic disease]]<ref name="pmid21239806">{{cite journal |vauthors=Roy CN |title=Anemia of inflammation |journal=Hematology Am Soc Hematol Educ Program |volume=2010 |issue= |pages=276–80 |date=2010 |pmid=21239806 |doi=10.1182/asheducation-2010.1.276 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Rheumatoid arthritis]]<br />
* [[SLE]]<br />
* [[Neoplasm]]<br />
* [[Chronic kidney disease]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Headache]]<br />
* [[Shortness of breath]]<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl or ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | NA<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Thalassemia]]<ref name="pmid25500521">{{cite journal |vauthors=Zainal NZ, Alauddin H, Ahmad S, Hussin NH |title=α-Thalassemia with Haemoglobin Adana mutation: prenatal diagnosis |journal=Malays J Pathol |volume=36 |issue=3 |pages=207–11 |date=December 2014 |pmid=25500521 |doi= |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | '''[[Thalassemia|α-thalassemia]]'''<br />
* '''''α'''''- globin gene deletions<br />
* [[Cis]] deletions<br />
* [[Trans]] deletions<br />
'''[[Thalassemia|β-thalassemia]]'''<br />
* [[Point mutation]] in [[Splice site|splice sites]] and promoter sequences<br />
| align="left" style="background:#F5F5F5;" | <br />
* Associated with [[parvovirus B19]] <br />
| align="left" style="background:#F5F5F5;" | [[Thalassemia|'''α-thalassemia''']]<br />
* [[Hydrops fetalis]]<br />
[[Thalassemia|'''β-thalassemia''']]<br />
* [[Skeletal]] deformities<br />
* Chipmunk facies<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Hepatomegaly]]<br />
* [[Splenomegaly]] <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="left" style="background:#F5F5F5;" | <br />
* Thalassemia trait: Nl or ↓<br />
* Thalassemia Syndromes: ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl to ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl to ↑<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Target cell|Target cells]]<br />
* Anisopoikilocytosis<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Glucose 6 phosphate dehydrogenase deficiency|G6PD deficiency]]<ref name="pmid24372186">{{cite journal |vauthors=Luzzatto L, Seneca E |title=G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications |journal=Br. J. Haematol. |volume=164 |issue=4 |pages=469–80 |date=February 2014 |pmid=24372186 |pmc=4153881 |doi=10.1111/bjh.12665 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |<br />
* Defect in [[Glucose-6-phosphate dehydrogenase|G6PD]] enzyme<br />
* X-Linked [[recessive]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* History of using<br />
<br />
** [[Sulfonamide (medicine)|Sulfa drugs]]<br />
** [[Antimalarial drug|Antimalarials]]<br />
** [[Fava bean|Fava Beans]]<br />
* [[Infection|Infections]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Back pain]]<br />
* [[Hemoglobinuria]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Back pain]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |Intrinsic<br />
| align="center" style="background:#F5F5F5;" |[[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" |[[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑ but usually causes resolution within 4-7 days<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl to ↑<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Red blood cell|RBC]] with [[Heinz bodies]]<br />
* Bite [[Cell (biology)|cells]]<br />
* Blister [[Cell (biology)|cells]]<br />
* <br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Pyruvate kinase deficiency]]<ref name="pmid26087744">{{cite journal |vauthors=Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B |title=Erythrocyte pyruvate kinase deficiency: 2015 status report |journal=Am. J. Hematol. |volume=90 |issue=9 |pages=825–30 |date=September 2015 |pmid=26087744 |pmc=5053227 |doi=10.1002/ajh.24088 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Mutation]] in the ''[[PKLR]]'' and ''[[PKM2|PKM]]'' gene<br />
* [[Autosomal recessive]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Gallstones]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Hydrops fetalis]]<br />
* [[Neonatal hyperbilirubinemia]]<br />
* [[Iron overload]]<br />
* [[Perinatal]] complications <br />
| align="left" style="background:#F5F5F5;" | <br />
* Skin [[ulcers]]<br />
* [[Splenomegaly]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Prickle [[cells]]<br />
* Polychromatophilic [[erythrocytes]] <br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Sickle-cell disease|Sickle cell anemia]]<ref name="pmid25431087">{{cite journal |vauthors=Singh PC, Ballas SK |title=Emerging drugs for sickle cell anemia |journal=Expert Opin Emerg Drugs |volume=20 |issue=1 |pages=47–61 |date=March 2015 |pmid=25431087 |doi=10.1517/14728214.2015.985587 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* Hbs [[point mutation]] causes a single [[Amino acid|amino acid]] replacement in β chain<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[High altitude]]<br />
* Low [[Oxygen]]<br />
* [[Acidosis]]<br />
* African-American race <br />
* [[Parvovirus B19]] infection<br />
| align="left" style="background:#F5F5F5;" | <br />
* Painful crisis<br />
** [[Dactylitis]]<br />
** [[Priapism]]<br />
** [[Acute chest syndrome]]<br />
** [[Avascular necrosis|Avascular Necrosis]]<br />
** [[Stroke]]<br />
* [[Autosplenectomy]]<br />
* [[Salmonella|Salmonella osteomyelitis]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Dactylitis]]<br />
* [[Priapism]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl or moderately ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl or moderately ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl <br />
| align="left" style="background:#F5F5F5;" | <br />
* Increased [[erythropoiesis]]<br />
* [[Howell-Jolly bodies]]<br />
* [[Anisocytosis]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |HbC disease<ref name="pmid25335812">{{cite journal |vauthors=Lemonne N, Billaud M, Waltz X, Romana M, Hierso R, Etienne-Julan M, Connes P |title=Rheology of red blood cells in patients with HbC disease |journal=Clin. Hemorheol. Microcirc. |volume=61 |issue=4 |pages=571–7 |date=2016 |pmid=25335812 |doi=10.3233/CH-141906 |url=}}</ref> <br />
| align="left" style="background:#F5F5F5;" | <br />
* Glutamic acid–to-lysine [[mutation]] in β-globin<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Gallstone]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Joint pains]]<br />
* Increased risk of [[Infection|infections]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Splenomegaly]]<br />
* [[Gallstone disease|Cholelithiasis]]<br />
* [[Avascular necrosis|Avascular necrosis of the femoral head]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl <br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Hemoglobin crystals inside [[RBCs]]<br />
* [[Target cell|Target cells]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Paroxysmal nocturnal hemoglobinuria]]<ref name="pmid1402472">{{cite journal |vauthors=Bunyaratvej A, Butthep P |title=Cytometric analysis of paroxysmal nocturnal hemoglobinuria erythrocytes |journal=J Med Assoc Thai |volume=75 Suppl 1 |issue= |pages=237–42 |date=January 1992 |pmid=1402472 |doi= |url=}}</ref><ref name="pmid25553278">{{cite journal |vauthors=Kahng J, Kim Y, Kim JO, Koh K, Lee JW, Han K |title=A novel marker for screening paroxysmal nocturnal hemoglobinuria using routine complete blood count and cell population data |journal=Ann Lab Med |volume=35 |issue=1 |pages=35–40 |date=January 2015 |pmid=25553278 |pmc=4272963 |doi=10.3343/alm.2015.35.1.35 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* [[PIGA]] gene mutations<br />
* Impaired synthesis of [[GPI anchor]] for [[decay-accelerating factor]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Associated with [[aplastic anemia]]<br />
* [[Thrombosis]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Fatigue]]<br />
* [[Chest pain]]<br />
* [[Dyspnea]] on exertion<br />
* [[Headache]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Hemolysis|Chronic hemolysis]] <br />
* [[Hepatomegaly]] <br />
* [[Ascites]]<br />
* [[Papilledema]] <br />
* Skin nodules<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | NA<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Hereditary spherocytosis]]<ref name="pmid23664421">{{cite journal |vauthors=Da Costa L, Galimand J, Fenneteau O, Mohandas N |title=Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders |journal=Blood Rev. |volume=27 |issue=4 |pages=167–78 |date=July 2013 |pmid=23664421 |doi=10.1016/j.blre.2013.04.003 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Mutations]] in [[Ankyrin]], [[Band 3]], [[Protein 4.2]], and [[spectrin]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Associated with [[parvovirus B19]]<br />
* [[Cholelithiasis]]<br />
* Megaloblastic crisis<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Aplastic crisis]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Splenomegaly]] <br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Small, round [[Red blood cell|RBC]]s with less surface area and no central pallor<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Microangiopathic hemolytic anemia]]<ref name="pmid26251142">{{cite journal |vauthors=Morishita E |title=[Diagnosis and treatment of microangiopathic hemolytic anemia] |language=Japanese |journal=Rinsho Ketsueki |volume=56 |issue=7 |pages=795–806 |date=July 2015 |pmid=26251142 |doi=10.11406/rinketsu.56.795 |url=}}</ref><ref name="pmid23390027">{{cite journal |vauthors=George JN, Charania RS |title=Evaluation of patients with microangiopathic hemolytic anemia and thrombocytopenia |journal=Semin. Thromb. Hemost. |volume=39 |issue=2 |pages=153–60 |date=March 2013 |pmid=23390027 |doi=10.1055/s-0032-1333538 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | Associated with<br />
* [[Disseminated intravascular coagulation|DIC]]<br />
* [[TTP]]<br />
* [[Hemolytic-uremic syndrome|HUS]]<br />
* [[SLE]]<br />
* [[HELLP syndrome]]<br />
* [[Hypertensive crisis|Hypertensive emergency]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Purpura]]<br />
* [[Confusion]] <br />
* [[Aphasia]]<br />
* [[Diplopia]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Paresthesia|Numbness]] of an arm or hand<br />
* [[Jaundice]]<br />
* [[Pallor|Pale conjunctiva]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Extrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Helmet cells<br />
|-<br />
! align="center" style="background:#DCDCDC;" |Macroangiopathic hemolytic anemia<ref name="pmid5108522">{{cite journal |vauthors=Westphal RG, Azen EA |title=Macroangiopathic hemolytic anemia due to congenital cardiovascular anomalies |journal=JAMA |volume=216 |issue=9 |pages=1477–8 |date=May 1971 |pmid=5108522 |doi= |url=}}</ref> <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Autoimmunity|Autoimmune]] <br />
| align="left" style="background:#F5F5F5;" | Associated with<br />
* [[Artificial heart valve|Prosthetic heart valves]]<br />
* [[Aortic stenosis]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Pallor]]<br />
* [[Fatigue]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Signs of [[anemia]]<br />
* Complications of [[hemolysis]]<br />
* Decreased vascular volume<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Extrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Spherocytosis|Spherocytes]] or [[Red blood cell|schistocytes]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Autoimmune hemolytic anemia]]<ref name="pmid26447931">{{cite journal |vauthors=Hill QA |title=Autoimmune hemolytic anemia |journal=Hematology |volume=20 |issue=9 |pages=553–4 |date=October 2015 |pmid=26447931 |doi=10.1179/1024533215Z.000000000401 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | Associated with:<br />
* [[SLE]]<br />
* [[Chronic lymphocytic leukemia|CLL]]<br />
* [[Mycoplasma pneumonia]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Painful blue fingers and toes on exposure to cold temperature<br />
* [[Chest pain]]<br />
* [[Rigor|Chills]]<br />
* [[Dizziness]]<br />
* [[Tachycardia]]<br />
* [[Headache]]<br />
* [[Fatigue]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* Painful, blue fingers and toes with cold weather<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Extrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Red blood cell|RBC]] agglutination<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Aplastic anemia]]<ref name="pmid24424170">{{cite journal |vauthors=Dolberg OJ, Levy Y |title=Idiopathic aplastic anemia: diagnosis and classification |journal=Autoimmun Rev |volume=13 |issue=4-5 |pages=569–73 |date=2014 |pmid=24424170 |doi=10.1016/j.autrev.2014.01.014 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* Constitutive expression of Tbet<br />
* [[Mutation|Mutations]] in the [[perforin]] gene<br />
* Mutations in ''SAP'' gene<br />
| align="left" style="background:#F5F5F5;" | <br />
* Exposure to [[Radiation]]<br />
* Drugs like [[Benzene]], [[chloramphenicol]], [[Alkylating agent|alkylating agents]] <br />
* Viral infections like [[EBV]], [[HIV]], [[Hepatitis]]<br />
* [[Fanconi anemia]]<br />
* Idiopathic like [[Immune]] mediated, primary stem cell defect<br />
| align="left" style="background:#F5F5F5;" | <br />
* Symptoms based on underlying condition<br />
| align="left" style="background:#F5F5F5;" | <br />
* Short stature<br />
* [[Cafe-au-lait spots]]<br />
* Thumb defects<br />
* [[Radius (bone)|Radial]] defects<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |[[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" |[[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Pancytopenia]]<br />
* Fatty [[Infiltration (medical)|infiltration]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Folate deficiency]]<ref name="pmid25663227">{{cite journal |vauthors=Koike H, Takahashi M, Ohyama K, Hashimoto R, Kawagashira Y, Iijima M, Katsuno M, Doi H, Tanaka F, Sobue G |title=Clinicopathologic features of folate-deficiency neuropathy |journal=Neurology |volume=84 |issue=10 |pages=1026–33 |date=March 2015 |pmid=25663227 |doi=10.1212/WNL.0000000000001343 |url=}}</ref> <br />
| align="left" style="background:#F5F5F5;" |<br />
* Impaired [[DNA]] synthesis<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Long-term effects of alcohol|Alcohol consumption]]<br />
* History of using drugs like [[methotrexate]], [[trimethoprim]], and [[phenytoin]]<br />
* Low socioeconomic groups with poor nutrition<br />
* Older people<br />
* [[Pregnancy|Pregnant]] and [[lactating]] women<br />
| align="left" style="background:#F5F5F5;" |<br />
* No neurological symptoms vs [[Vitamin B12 deficiency|B12 deficiency]]<br />
* [[Odinophagia|Odynophagia]]<br />
* [[Stomatitis|Angular stomatitis]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Glossitis]]<br />
* Signs of [[Congestive heart failure|heart failure]]<br />
* [[Anencephaly]] and [[spina bifida]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic <br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Macrocytosis|RBC macrocytosis]]<br />
* [[Neutrophil|Hypersegmented neutrophils]]<br />
* [[Pancytopenia]] in severe cases <br />
* <br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Vitamin B12 deficiency]]<ref name="pmid25189324">{{cite journal |vauthors=Hunt A, Harrington D, Robinson S |title=Vitamin B12 deficiency |journal=BMJ |volume=349 |issue= |pages=g5226 |date=September 2014 |pmid=25189324 |doi= |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |<br />
* Impaired [[DNA synthesis]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Pernicious anemia]]<br />
* [[Crohn's disease]]<br />
* [[Gastrectomy]]<br />
* [[Vegan|Veganism]]<br />
* [[Diphyllobothrium|Diphyllobothrium latum]] infection<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Psychosis]]<br />
* [[Insomnia]]<br />
* [[Depression]]<br />
* Cognitive slowing<br />
* [[Restless leg syndrome]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* Neurological deficit<br />
* [[Myelopathy]] <br />
* [[Memory loss]] with reduced attention span <br />
* [[Nystagmus]]<br />
* Positive [[Romberg test|romberg sign]]<br />
* Positive [[Lhermitte's sign]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Senile]] [[neutrophil]]<br />
* [[Anisocytosis]] <br />
* [[Ovalocytosis|Ovalocytes]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Orotic aciduria]]<ref name="pmid25757096">{{cite journal |vauthors=Grohmann K, Lauffer H, Lauenstein P, Hoffmann GF, Seidlitz G |title=Hereditary orotic aciduria with epilepsy and without megaloblastic anemia |journal=Neuropediatrics |volume=46 |issue=2 |pages=123–5 |date=April 2015 |pmid=25757096 |doi=10.1055/s-0035-1547341 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Autosomal recessive]]<br />
* Deficiency of enzyme [[Uridine monophosphate synthetase|UMPS]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* Episodic [[Nausea and vomiting|vomiting]]<br />
* [[Rhabdomyolysis]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Coma]]<br />
* [[Gastrointestinal tract|Gastrointestinal]] manifestation<br />
| align="left" style="background:#F5F5F5;" |<br />
* Neurological manifestation<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |NA<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Fanconi anemia]]<ref name="pmid25455269">{{cite journal |vauthors=Alter BP |title=Fanconi anemia and the development of leukemia |journal=Best Pract Res Clin Haematol |volume=27 |issue=3-4 |pages=214–21 |date=2014 |pmid=25455269 |pmc=4254647 |doi=10.1016/j.beha.2014.10.002 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Autosomal recessive]]<br />
* [[X-linked recessive]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* History of [[anemia]] at age 16<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Hypopigmentation]]<br />
* [[Café au lait spot|Cafe-au-lait patches]]<br />
* Radial ray anomaly<br />
| align="left" style="background:#F5F5F5;" |<br />
* Significant for bilateral short thumbs <br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* Nl appearing [[White blood cells|WBC]], [[Red blood cell|RBC]] and [[Platelet|Platelets]]<br />
* But the number is greatly reduced<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Diamond-Blackfan anemia]]<ref name="pmid24665981">{{cite journal |vauthors=Vlachos A, Blanc L, Lipton JM |title=Diamond Blackfan anemia: a model for the translational approach to understanding human disease |journal=Expert Rev Hematol |volume=7 |issue=3 |pages=359–72 |date=June 2014 |pmid=24665981 |doi=10.1586/17474086.2014.897923 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |Mutations in:<br />
* ''RPL5''<br />
* ''RPL11''<br />
* ''RPL35A''<br />
* ''RPS7''<br />
* ''RPS10''<br />
* ''RPS17''<br />
* ''RPS19''<br />
* ''RPS24''<br />
* ''RPS26''<br />
| align="left" style="background:#F5F5F5;" |<br />
* Associated with [[myelodysplastic syndrome]]<br />
* Increased risk of [[AML]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Pale skin]]<br />
* Sleepiness<br />
* [[Murmur|Heart murmurs]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* Triphalangeal thumbs<br />
* [[Short stature]]<br />
* [[Microcephaly]]<br />
* [[Hypertelorism]]<br />
* [[Ptosis]]<br />
* [[Micrognathia]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |NA<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Infection|Infections]]<ref name="pmid23324217">{{cite journal |vauthors=Bustinduy AL, Parraga IM, Thomas CL, Mungai PL, Mutuku F, Muchiri EM, Kitron U, King CH |title=Impact of polyparasitic infections on anemia and undernutrition among Kenyan children living in a Schistosoma haematobium-endemic area |journal=Am. J. Trop. Med. Hyg. |volume=88 |issue=3 |pages=433–40 |date=March 2013 |pmid=23324217 |pmc=3592521 |doi=10.4269/ajtmh.12-0552 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | Associated with<br />
* [[Malaria]]<br />
* [[Babesia]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Fever]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Fever]]<br />
* Signs of [[shock]]<br />
* [[Headache]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Extrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Trophozoite]]<br />
* Maltese crosses <br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Chronic renal failure|Chronic kidney disease]]<ref name="pmid26030647">{{cite journal |vauthors=Drawz P, Rahman M |title=Chronic kidney disease |journal=Ann. Intern. Med. |volume=162 |issue=11 |pages=ITC1–16 |date=June 2015 |pmid=26030647 |doi=10.7326/AITC201506020 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Pericarditis]]<br />
* [[Encephalopathy]]<br />
* [[Incontinence|Rectal incontinence]]<br />
* Decreased [[libido]]<br />
* [[Restless legs syndrome|Restless leg syndrome]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Polyuria]]<br />
* [[Hematuria]]<br />
* [[Edema]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Hypertension]]<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |[[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" |[[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |Nl/↑<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Hepato-biliary diseases|Liver disease]]<ref name="pmid23953338">{{cite journal |vauthors=Marks PW |title=Hematologic manifestations of liver disease |journal=Semin. Hematol. |volume=50 |issue=3 |pages=216–21 |date=July 2013 |pmid=23953338 |doi=10.1053/j.seminhematol.2013.06.003 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Hepatitis]]<br />
* Binge drinking<br />
* Gall bladder disease<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Jaundice]]<br />
* [[Abdominal pain]]<br />
* [[Itchy skin]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Ascites]]<br />
* Right upper quadrant pain<br />
* [[Hepatomegaly]]<br />
* [[Edema|Swelling]] in the legs<br />
* [[Ankle swelling]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Macrocyte|Round macrocytes]]<br />
* [[Macrocyte|Target macrocytes]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Alcoholism]]<ref name="pmid24588059">{{cite journal |vauthors=Yokoyama A, Yokoyama T, Brooks PJ, Mizukami T, Matsui T, Kimura M, Matsushita S, Higuchi S, Maruyama K |title=Macrocytosis, macrocytic anemia, and genetic polymorphisms of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 in Japanese alcoholic men |journal=Alcohol. Clin. Exp. Res. |volume=38 |issue=5 |pages=1237–46 |date=May 2014 |pmid=24588059 |doi=10.1111/acer.12372 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="left" style="background:#F5F5F5;" |<br />
* History of increased [[Effects of alcohol on the body|alcohol intake]]<br />
* [[Folic acid deficiency]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Memory impairment]]<br />
* [[Nausea]]<br />
* [[Sweating]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* Truncal [[obesity]]<br />
* [[Asterixis]] <br />
* [[Encephalopathy]]<br />
* [[Spider angiomas]]<br />
* [[Hematemesis]]<br />
* [[Gynecomastia]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Macrocyte|Oval macrocytes]]<br />
* [[Neutrophil|Hypersegmented neutrophils]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|}<br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Hematology]]<br />
[[Category:Gastroenterology]]<br />
[[Category:Primary care]]<br />
[[Category:Endocrinology]]<br />
<br />
{{WH}}<br />
{{WS}}</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Iron_deficiency_anemia_differential_diagnosis&diff=1544361
Iron deficiency anemia differential diagnosis
2019-01-31T20:08:50Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Iron deficiency anemia}}<br />
{{CMG}}; '''Associate Editor(s)-In-Chief:''' {{AE}}[[Priyamvada Singh|Priyamvada Singh, M.D.]],{{SSW}},{{VKG}} <br />
<br />
{{PleaseHelp}}<br />
<br />
==Overview==<br />
[[Iron deficiency anemia]] and [[Thalassemia Minor]] present with many of the same lab results. It is very important not to treat a patient with Thalassemia with an iron supplement as this can lead to [[hemochromatosis]] (accumulation of iron in the liver) A hemoglobin [[electrophoresis]] would provide useful evidence in distinguishing these two conditions, along with iron studies.<br />
<br />
==Differential Diagnosis==<br />
<br />
{| <br />
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Clinical manifestation<br />
! colspan="12" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab findings<br />
|-<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms <br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Iron studies<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin or TIBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Transferrin saturation<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Iron deficiency anemia]]<ref name="pmid25946282">{{cite journal |vauthors=Camaschella C |title=Iron-deficiency anemia |journal=N. Engl. J. Med. |volume=372 |issue=19 |pages=1832–43 |date=May 2015 |pmid=25946282 |doi=10.1056/NEJMra1401038 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Menorrhagia]]<br />
* [[GI]] loss<br />
* [[Gastrointestinal tract|GI]] surgery<br />
* [[Pregnancy]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Koilonychia]]<br />
* [[Pica]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Glossitis]]<br />
* [[Cheilosis]] <br />
* [[Dysphagia]]<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl or ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↓↓↓<br />
| align="left" style="background:#F5F5F5;" | <br />
* Central [[pallor]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Iron deficiency anemia]] (early phase)<ref name="pmid24972460">{{cite journal |vauthors=De Andrade Cairo RC, Rodrigues Silva L, Carneiro Bustani N, Ferreira Marques CD |title=Iron deficiency anemia in adolescents; a literature review |journal=Nutr Hosp |volume=29 |issue=6 |pages=1240–9 |date=June 2014 |pmid=24972460 |doi=10.3305/nh.2014.29.6.7245 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Pica]]<br />
* [[Glossitis]]<br />
* [[Angular cheilitis|Cheilosis]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Fatigue]]<br />
* [[Headache]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Koilonychia]]<br />
* Conjunctival [[pallor]]<br />
* [[Xeroderma|Dry skin]]<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="left" style="background:#F5F5F5;" | <br />
* Pencil [[Cell (biology)|cells]]<br />
* [[Hereditary elliptocytosis|Elliptocytosis]]<br />
* Hypochromasia<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Lead poisoning]]<ref name="pmid25220013">{{cite journal |vauthors=Bain BJ |title=Lead poisoning |journal=Am. J. Hematol. |volume=89 |issue=12 |pages=1141 |date=December 2014 |pmid=25220013 |doi=10.1002/ajh.23852 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* House painted with chipped paint<br />
| align="left" style="background:#F5F5F5;" | <br />
* Burtonian lines<br />
* [[Basophilic]] [[Stippling (dentistry)|stippling]]<br />
* [[Wrist drop]]<br />
* [[Foot drop]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Wrist drop]]<br />
* [[Foot drop]]<br />
* Burtonian lines<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Intravascular|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl or ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl to ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl to ↓<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Red blood cell|RBCs]] retain aggregates of [[Ribosomal RNA|rRNA]]<br />
* Basophilic stippling<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Sideroblastic anemia]]<ref name="pmid25064706">{{cite journal |vauthors=Bottomley SS, Fleming MD |title=Sideroblastic anemia: diagnosis and management |journal=Hematol. Oncol. Clin. North Am. |volume=28 |issue=4 |pages=653–70, v |date=August 2014 |pmid=25064706 |doi=10.1016/j.hoc.2014.04.008 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* Defect in [[ALA synthase]] gene<br />
* [[Autosomal dominant]]<br />
* [[Autosomal recessive]] <br />
* [[X-linked]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Alcohol]] abuse <br />
* [[Isoniazid]] use<br />
* [[Chloramphenicol]] use <br />
* Lead poisoning<br />
* [[Idiopathic]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Seborrheic dermatitis]]<br />
* Glossy Tongue<br />
* [[Tingling]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Patient present with symptoms of [[Vitamin B6]], [[copper deficiency]] symptoms <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl or ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl to ↓<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Ringed [[Sideroblastic|sideroblasts]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Anemia of chronic disease]]<ref name="pmid21239806">{{cite journal |vauthors=Roy CN |title=Anemia of inflammation |journal=Hematology Am Soc Hematol Educ Program |volume=2010 |issue= |pages=276–80 |date=2010 |pmid=21239806 |doi=10.1182/asheducation-2010.1.276 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Rheumatoid arthritis]]<br />
* [[SLE]]<br />
* [[Neoplasm]]<br />
* [[Chronic kidney disease]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Headache]]<br />
* [[Shortness of breath]]<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl or ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | NA<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Thalassemia]]<ref name="pmid25500521">{{cite journal |vauthors=Zainal NZ, Alauddin H, Ahmad S, Hussin NH |title=α-Thalassemia with Haemoglobin Adana mutation: prenatal diagnosis |journal=Malays J Pathol |volume=36 |issue=3 |pages=207–11 |date=December 2014 |pmid=25500521 |doi= |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | '''[[Thalassemia|α-thalassemia]]'''<br />
* '''''α'''''- globin gene deletions<br />
* [[Cis]] deletions<br />
* [[Trans]] deletions<br />
'''[[Thalassemia|β-thalassemia]]'''<br />
* [[Point mutation]] in [[Splice site|splice sites]] and promoter sequences<br />
| align="left" style="background:#F5F5F5;" | <br />
* Associated with [[parvovirus B19]] <br />
| align="left" style="background:#F5F5F5;" | [[Thalassemia|'''α-thalassemia''']]<br />
* [[Hydrops fetalis]]<br />
[[Thalassemia|'''β-thalassemia''']]<br />
* [[Skeletal]] deformities<br />
* Chipmunk facies<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Hepatomegaly]]<br />
* [[Splenomegaly]] <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="left" style="background:#F5F5F5;" | <br />
* Thalassemia trait: Nl or ↓<br />
* Thalassemia Syndromes: ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl to ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl to ↑<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Target cell|Target cells]]<br />
* Anisopoikilocytosis<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Glucose 6 phosphate dehydrogenase deficiency|G6PD deficiency]]<ref name="pmid24372186">{{cite journal |vauthors=Luzzatto L, Seneca E |title=G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications |journal=Br. J. Haematol. |volume=164 |issue=4 |pages=469–80 |date=February 2014 |pmid=24372186 |pmc=4153881 |doi=10.1111/bjh.12665 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |<br />
* Defect in [[Glucose-6-phosphate dehydrogenase|G6PD]] enzyme<br />
* X-Linked [[recessive]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* History of using<br />
<br />
** [[Sulfonamide (medicine)|Sulfa drugs]]<br />
** [[Antimalarial drug|Antimalarials]]<br />
** [[Fava bean|Fava Beans]]<br />
* [[Infection|Infections]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Back pain]]<br />
* [[Hemoglobinuria]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Back pain]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |Intrinsic<br />
| align="center" style="background:#F5F5F5;" |[[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" |[[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑ but usually causes resolution within 4-7 days<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl to ↑<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Red blood cell|RBC]] with [[Heinz bodies]]<br />
* Bite [[Cell (biology)|cells]]<br />
* Blister [[Cell (biology)|cells]]<br />
* <br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Pyruvate kinase deficiency]]<ref name="pmid26087744">{{cite journal |vauthors=Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B |title=Erythrocyte pyruvate kinase deficiency: 2015 status report |journal=Am. J. Hematol. |volume=90 |issue=9 |pages=825–30 |date=September 2015 |pmid=26087744 |pmc=5053227 |doi=10.1002/ajh.24088 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Mutation]] in the ''[[PKLR]]'' and ''[[PKM2|PKM]]'' gene<br />
* [[Autosomal recessive]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Gallstones]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Hydrops fetalis]]<br />
* [[Neonatal hyperbilirubinemia]]<br />
* [[Iron overload]]<br />
* [[Perinatal]] complications <br />
| align="left" style="background:#F5F5F5;" | <br />
* Skin [[ulcers]]<br />
* [[Splenomegaly]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Prickle [[cells]]<br />
* Polychromatophilic [[erythrocytes]] <br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Sickle-cell disease|Sickle cell anemia]]<ref name="pmid25431087">{{cite journal |vauthors=Singh PC, Ballas SK |title=Emerging drugs for sickle cell anemia |journal=Expert Opin Emerg Drugs |volume=20 |issue=1 |pages=47–61 |date=March 2015 |pmid=25431087 |doi=10.1517/14728214.2015.985587 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* Hbs [[point mutation]] causes a single [[Amino acid|amino acid]] replacement in β chain<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[High altitude]]<br />
* Low [[Oxygen]]<br />
* [[Acidosis]]<br />
* African-American race <br />
* [[Parvovirus B19]] infection<br />
| align="left" style="background:#F5F5F5;" | <br />
* Painful crisis<br />
** [[Dactylitis]]<br />
** [[Priapism]]<br />
** [[Acute chest syndrome]]<br />
** [[Avascular necrosis|Avascular Necrosis]]<br />
** [[Stroke]]<br />
* [[Autosplenectomy]]<br />
* [[Salmonella|Salmonella osteomyelitis]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Dactylitis]]<br />
* [[Priapism]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl or moderately ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl or moderately ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl <br />
| align="left" style="background:#F5F5F5;" | <br />
* Increased [[erythropoiesis]]<br />
* [[Howell-Jolly bodies]]<br />
* [[Anisocytosis]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |HbC disease<ref name="pmid25335812">{{cite journal |vauthors=Lemonne N, Billaud M, Waltz X, Romana M, Hierso R, Etienne-Julan M, Connes P |title=Rheology of red blood cells in patients with HbC disease |journal=Clin. Hemorheol. Microcirc. |volume=61 |issue=4 |pages=571–7 |date=2016 |pmid=25335812 |doi=10.3233/CH-141906 |url=}}</ref> <br />
| align="left" style="background:#F5F5F5;" | <br />
* Glutamic acid–to-lysine [[mutation]] in β-globin<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Gallstone]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Joint pains]]<br />
* Increased risk of [[Infection|infections]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Splenomegaly]]<br />
* [[Gallstone disease|Cholelithiasis]]<br />
* [[Avascular necrosis|Avascular necrosis of the femoral head]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl <br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Hemoglobin crystals inside [[RBCs]]<br />
* [[Target cell|Target cells]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Paroxysmal nocturnal hemoglobinuria]]<ref name="pmid1402472">{{cite journal |vauthors=Bunyaratvej A, Butthep P |title=Cytometric analysis of paroxysmal nocturnal hemoglobinuria erythrocytes |journal=J Med Assoc Thai |volume=75 Suppl 1 |issue= |pages=237–42 |date=January 1992 |pmid=1402472 |doi= |url=}}</ref><ref name="pmid25553278">{{cite journal |vauthors=Kahng J, Kim Y, Kim JO, Koh K, Lee JW, Han K |title=A novel marker for screening paroxysmal nocturnal hemoglobinuria using routine complete blood count and cell population data |journal=Ann Lab Med |volume=35 |issue=1 |pages=35–40 |date=January 2015 |pmid=25553278 |pmc=4272963 |doi=10.3343/alm.2015.35.1.35 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* [[PIGA]] gene mutations<br />
* Impaired synthesis of [[GPI anchor]] for [[decay-accelerating factor]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Associated with [[aplastic anemia]]<br />
* [[Thrombosis]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Fatigue]]<br />
* [[Chest pain]]<br />
* [[Dyspnea]] on exertion<br />
* [[Headache]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Hemolysis|Chronic hemolysis]] <br />
* [[Hepatomegaly]] <br />
* [[Ascites]]<br />
* [[Papilledema]] <br />
* Skin nodules<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | NA<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Hereditary spherocytosis]]<ref name="pmid23664421">{{cite journal |vauthors=Da Costa L, Galimand J, Fenneteau O, Mohandas N |title=Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders |journal=Blood Rev. |volume=27 |issue=4 |pages=167–78 |date=July 2013 |pmid=23664421 |doi=10.1016/j.blre.2013.04.003 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Mutations]] in [[Ankyrin]], [[Band 3]], [[Protein 4.2]], and [[spectrin]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Associated with [[parvovirus B19]]<br />
* [[Cholelithiasis]]<br />
* Megaloblastic crisis<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Aplastic crisis]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Splenomegaly]] <br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Small, round [[Red blood cell|RBC]]s with less surface area and no central pallor<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Microangiopathic hemolytic anemia]]<ref name="pmid26251142">{{cite journal |vauthors=Morishita E |title=[Diagnosis and treatment of microangiopathic hemolytic anemia] |language=Japanese |journal=Rinsho Ketsueki |volume=56 |issue=7 |pages=795–806 |date=July 2015 |pmid=26251142 |doi=10.11406/rinketsu.56.795 |url=}}</ref><ref name="pmid23390027">{{cite journal |vauthors=George JN, Charania RS |title=Evaluation of patients with microangiopathic hemolytic anemia and thrombocytopenia |journal=Semin. Thromb. Hemost. |volume=39 |issue=2 |pages=153–60 |date=March 2013 |pmid=23390027 |doi=10.1055/s-0032-1333538 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | Associated with<br />
* [[Disseminated intravascular coagulation|DIC]]<br />
* [[TTP]]<br />
* [[Hemolytic-uremic syndrome|HUS]]<br />
* [[SLE]]<br />
* [[HELLP syndrome]]<br />
* [[Hypertensive crisis|Hypertensive emergency]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Purpura]]<br />
* [[Confusion]] <br />
* [[Aphasia]]<br />
* [[Diplopia]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Paresthesia|Numbness]] of an arm or hand<br />
* [[Jaundice]]<br />
* [[Pallor|Pale conjunctiva]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Extrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Helmet cells<br />
|-<br />
! align="center" style="background:#DCDCDC;" |Macroangiopathic hemolytic anemia<ref name="pmid5108522">{{cite journal |vauthors=Westphal RG, Azen EA |title=Macroangiopathic hemolytic anemia due to congenital cardiovascular anomalies |journal=JAMA |volume=216 |issue=9 |pages=1477–8 |date=May 1971 |pmid=5108522 |doi= |url=}}</ref> <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Autoimmunity|Autoimmune]] <br />
| align="left" style="background:#F5F5F5;" | Associated with<br />
* [[Artificial heart valve|Prosthetic heart valves]]<br />
* [[Aortic stenosis]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Pallor]]<br />
* [[Fatigue]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Signs of [[anemia]]<br />
* Complications of [[hemolysis]]<br />
* Decreased vascular volume<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Extrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Spherocytosis|Spherocytes]] or [[Red blood cell|schistocytes]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Autoimmune hemolytic anemia]]<ref name="pmid26447931">{{cite journal |vauthors=Hill QA |title=Autoimmune hemolytic anemia |journal=Hematology |volume=20 |issue=9 |pages=553–4 |date=October 2015 |pmid=26447931 |doi=10.1179/1024533215Z.000000000401 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | Associated with:<br />
* [[SLE]]<br />
* [[Chronic lymphocytic leukemia|CLL]]<br />
* [[Mycoplasma pneumonia]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Painful blue fingers and toes on exposure to cold temperature<br />
* [[Chest pain]]<br />
* [[Rigor|Chills]]<br />
* [[Dizziness]]<br />
* [[Tachycardia]]<br />
* [[Headache]]<br />
* [[Fatigue]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* Painful, blue fingers and toes with cold weather<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Extrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Red blood cell|RBC]] agglutination<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Aplastic anemia]]<ref name="pmid24424170">{{cite journal |vauthors=Dolberg OJ, Levy Y |title=Idiopathic aplastic anemia: diagnosis and classification |journal=Autoimmun Rev |volume=13 |issue=4-5 |pages=569–73 |date=2014 |pmid=24424170 |doi=10.1016/j.autrev.2014.01.014 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* Constitutive expression of Tbet<br />
* [[Mutation|Mutations]] in the [[perforin]] gene<br />
* Mutations in ''SAP'' gene<br />
| align="left" style="background:#F5F5F5;" | <br />
* Exposure to [[Radiation]]<br />
* Drugs like [[Benzene]], [[chloramphenicol]], [[Alkylating agent|alkylating agents]] <br />
* Viral infections like [[EBV]], [[HIV]], [[Hepatitis]]<br />
* [[Fanconi anemia]]<br />
* Idiopathic like [[Immune]] mediated, primary stem cell defect<br />
| align="left" style="background:#F5F5F5;" | <br />
* Symptoms based on underlying condition<br />
| align="left" style="background:#F5F5F5;" | <br />
* Short stature<br />
* [[Cafe-au-lait spots]]<br />
* Thumb defects<br />
* [[Radius (bone)|Radial]] defects<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |[[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" |[[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Pancytopenia]]<br />
* Fatty [[Infiltration (medical)|infiltration]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Folate deficiency]]<ref name="pmid25663227">{{cite journal |vauthors=Koike H, Takahashi M, Ohyama K, Hashimoto R, Kawagashira Y, Iijima M, Katsuno M, Doi H, Tanaka F, Sobue G |title=Clinicopathologic features of folate-deficiency neuropathy |journal=Neurology |volume=84 |issue=10 |pages=1026–33 |date=March 2015 |pmid=25663227 |doi=10.1212/WNL.0000000000001343 |url=}}</ref> <br />
| align="left" style="background:#F5F5F5;" |<br />
* Impaired [[DNA]] synthesis<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Long-term effects of alcohol|Alcohol consumption]]<br />
* History of using drugs like [[methotrexate]], [[trimethoprim]], and [[phenytoin]]<br />
* Low socioeconomic groups with poor nutrition<br />
* Older people<br />
* [[Pregnancy|Pregnant]] and [[lactating]] women<br />
| align="left" style="background:#F5F5F5;" |<br />
* No neurological symptoms vs [[Vitamin B12 deficiency|B12 deficiency]]<br />
* [[Odinophagia|Odynophagia]]<br />
* [[Stomatitis|Angular stomatitis]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Glossitis]]<br />
* Signs of [[Congestive heart failure|heart failure]]<br />
* [[Anencephaly]] and [[spina bifida]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic <br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Macrocytosis|RBC macrocytosis]]<br />
* [[Neutrophil|Hypersegmented neutrophils]]<br />
* [[Pancytopenia]] in severe cases <br />
* <br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Vitamin B12 deficiency]]<ref name="pmid25189324">{{cite journal |vauthors=Hunt A, Harrington D, Robinson S |title=Vitamin B12 deficiency |journal=BMJ |volume=349 |issue= |pages=g5226 |date=September 2014 |pmid=25189324 |doi= |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |<br />
* Impaired [[DNA synthesis]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Pernicious anemia]]<br />
* [[Crohn's disease]]<br />
* [[Gastrectomy]]<br />
* [[Vegan|Veganism]]<br />
* [[Diphyllobothrium|Diphyllobothrium latum]] infection<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Psychosis]]<br />
* [[Insomnia]]<br />
* [[Depression]]<br />
* Cognitive slowing<br />
* [[Restless leg syndrome]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* Neurological deficit<br />
* [[Myelopathy]] <br />
* [[Memory loss]] with reduced attention span <br />
* [[Nystagmus]]<br />
* Positive [[Romberg test|romberg sign]]<br />
* Positive [[Lhermitte's sign]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Senile]] [[neutrophil]]<br />
* [[Anisocytosis]] <br />
* [[Ovalocytosis|Ovalocytes]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Orotic aciduria]]<ref name="pmid25757096">{{cite journal |vauthors=Grohmann K, Lauffer H, Lauenstein P, Hoffmann GF, Seidlitz G |title=Hereditary orotic aciduria with epilepsy and without megaloblastic anemia |journal=Neuropediatrics |volume=46 |issue=2 |pages=123–5 |date=April 2015 |pmid=25757096 |doi=10.1055/s-0035-1547341 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Autosomal recessive]]<br />
* Deficiency of enzyme [[Uridine monophosphate synthetase|UMPS]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* Episodic [[Nausea and vomiting|vomiting]]<br />
* [[Rhabdomyolysis]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Coma]]<br />
* [[Gastrointestinal tract|Gastrointestinal]] manifestation<br />
| align="left" style="background:#F5F5F5;" |<br />
* Neurological manifestation<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |NA<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Fanconi anemia]]<ref name="pmid25455269">{{cite journal |vauthors=Alter BP |title=Fanconi anemia and the development of leukemia |journal=Best Pract Res Clin Haematol |volume=27 |issue=3-4 |pages=214–21 |date=2014 |pmid=25455269 |pmc=4254647 |doi=10.1016/j.beha.2014.10.002 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Autosomal recessive]]<br />
* [[X-linked recessive]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* History of [[anemia]] at age 16<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Hypopigmentation]]<br />
* [[Café au lait spot|Cafe-au-lait patches]]<br />
* Radial ray anomaly<br />
| align="left" style="background:#F5F5F5;" |<br />
* Significant for bilateral short thumbs <br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* Nl appearing [[White blood cells|WBC]], [[Red blood cell|RBC]] and [[Platelet|Platelets]]<br />
* But the number is greatly reduced<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Diamond-Blackfan anemia]]<ref name="pmid24665981">{{cite journal |vauthors=Vlachos A, Blanc L, Lipton JM |title=Diamond Blackfan anemia: a model for the translational approach to understanding human disease |journal=Expert Rev Hematol |volume=7 |issue=3 |pages=359–72 |date=June 2014 |pmid=24665981 |doi=10.1586/17474086.2014.897923 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |Mutations in:<br />
* ''RPL5''<br />
* ''RPL11''<br />
* ''RPL35A''<br />
* ''RPS7''<br />
* ''RPS10''<br />
* ''RPS17''<br />
* ''RPS19''<br />
* ''RPS24''<br />
* ''RPS26''<br />
| align="left" style="background:#F5F5F5;" |<br />
* Associated with [[myelodysplastic syndrome]]<br />
* Increased risk of [[AML]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Pale skin]]<br />
* Sleepiness<br />
* [[Murmur|Heart murmurs]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* Triphalangeal thumbs<br />
* [[Short stature]]<br />
* [[Microcephaly]]<br />
* [[Hypertelorism]]<br />
* [[Ptosis]]<br />
* [[Micrognathia]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |NA<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Infection|Infections]]<ref name="pmid23324217">{{cite journal |vauthors=Bustinduy AL, Parraga IM, Thomas CL, Mungai PL, Mutuku F, Muchiri EM, Kitron U, King CH |title=Impact of polyparasitic infections on anemia and undernutrition among Kenyan children living in a Schistosoma haematobium-endemic area |journal=Am. J. Trop. Med. Hyg. |volume=88 |issue=3 |pages=433–40 |date=March 2013 |pmid=23324217 |pmc=3592521 |doi=10.4269/ajtmh.12-0552 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | Associated with<br />
* [[Malaria]]<br />
* [[Babesia]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Fever]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Fever]]<br />
* Signs of [[shock]]<br />
* [[Headache]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Extrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Trophozoite]]<br />
* Maltese crosses <br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Chronic renal failure|Chronic kidney disease]]<ref name="pmid26030647">{{cite journal |vauthors=Drawz P, Rahman M |title=Chronic kidney disease |journal=Ann. Intern. Med. |volume=162 |issue=11 |pages=ITC1–16 |date=June 2015 |pmid=26030647 |doi=10.7326/AITC201506020 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Pericarditis]]<br />
* [[Encephalopathy]]<br />
* [[Incontinence|Rectal incontinence]]<br />
* Decreased [[libido]]<br />
* [[Restless legs syndrome|Restless leg syndrome]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Polyuria]]<br />
* [[Hematuria]]<br />
* [[Edema]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Hypertension]]<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |[[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" |[[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |Nl/↑<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Hepato-biliary diseases|Liver disease]]<ref name="pmid23953338">{{cite journal |vauthors=Marks PW |title=Hematologic manifestations of liver disease |journal=Semin. Hematol. |volume=50 |issue=3 |pages=216–21 |date=July 2013 |pmid=23953338 |doi=10.1053/j.seminhematol.2013.06.003 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Hepatitis]]<br />
* Binge drinking<br />
* Gall bladder disease<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Jaundice]]<br />
* [[Abdominal pain]]<br />
* [[Itchy skin]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Ascites]]<br />
* Right upper quadrant pain<br />
* [[Hepatomegaly]]<br />
* [[Edema|Swelling]] in the legs<br />
* [[Ankle swelling]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Macrocyte|Round macrocytes]]<br />
* [[Macrocyte|Target macrocytes]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Alcoholism]]<ref name="pmid24588059">{{cite journal |vauthors=Yokoyama A, Yokoyama T, Brooks PJ, Mizukami T, Matsui T, Kimura M, Matsushita S, Higuchi S, Maruyama K |title=Macrocytosis, macrocytic anemia, and genetic polymorphisms of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 in Japanese alcoholic men |journal=Alcohol. Clin. Exp. Res. |volume=38 |issue=5 |pages=1237–46 |date=May 2014 |pmid=24588059 |doi=10.1111/acer.12372 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="left" style="background:#F5F5F5;" |<br />
* History of increased [[Effects of alcohol on the body|alcohol intake]]<br />
* [[Folic acid deficiency]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Memory impairment]]<br />
* [[Nausea]]<br />
* [[Sweating]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* Truncal [[obesity]]<br />
* [[Asterixis]] <br />
* [[Encephalopathy]]<br />
* [[Spider angiomas]]<br />
* [[Hematemesis]]<br />
* [[Gynecomastia]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Macrocyte|Oval macrocytes]]<br />
* [[Neutrophil|Hypersegmented neutrophils]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|}<br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Hematology]]<br />
[[Category:Gastroenterology]]<br />
[[Category:Primary care]]<br />
[[Category:Endocrinology]]<br />
<br />
{{WH}}<br />
{{WS}}</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Iron_deficiency_anemia_differential_diagnosis&diff=1544355
Iron deficiency anemia differential diagnosis
2019-01-31T20:05:19Z
<p>Sargun Walia: /* Differential Diagnosis */</p>
<hr />
<div>__NOTOC__<br />
{{Iron deficiency anemia}}<br />
{{CMG}}; '''Associate Editor(s)-In-Chief:''' [[Priyamvada Singh|Priyamvada Singh, M.D.]] [mailto:psingh13579@gmail.com]<br />
<br />
{{PleaseHelp}}<br />
<br />
==Overview==<br />
[[Iron deficiency anemia]] and [[Thalassemia Minor]] present with many of the same lab results. It is very important not to treat a patient with Thalassemia with an iron supplement as this can lead to [[hemochromatosis]] (accumulation of iron in the liver) A hemoglobin [[electrophoresis]] would provide useful evidence in distinguishing these two conditions, along with iron studies.<br />
<br />
==Differential Diagnosis==<br />
<br />
{| <br />
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Clinical manifestation<br />
! colspan="12" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab findings<br />
|-<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms <br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Iron studies<br />
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin or TIBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Transferrin saturation<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Iron deficiency anemia]]<ref name="pmid25946282">{{cite journal |vauthors=Camaschella C |title=Iron-deficiency anemia |journal=N. Engl. J. Med. |volume=372 |issue=19 |pages=1832–43 |date=May 2015 |pmid=25946282 |doi=10.1056/NEJMra1401038 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Menorrhagia]]<br />
* [[GI]] loss<br />
* [[Gastrointestinal tract|GI]] surgery<br />
* [[Pregnancy]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Koilonychia]]<br />
* [[Pica]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Glossitis]]<br />
* [[Cheilosis]] <br />
* [[Dysphagia]]<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl or ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↓↓↓<br />
| align="left" style="background:#F5F5F5;" | <br />
* Central [[pallor]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Iron deficiency anemia]] (early phase)<ref name="pmid24972460">{{cite journal |vauthors=De Andrade Cairo RC, Rodrigues Silva L, Carneiro Bustani N, Ferreira Marques CD |title=Iron deficiency anemia in adolescents; a literature review |journal=Nutr Hosp |volume=29 |issue=6 |pages=1240–9 |date=June 2014 |pmid=24972460 |doi=10.3305/nh.2014.29.6.7245 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Pica]]<br />
* [[Glossitis]]<br />
* [[Angular cheilitis|Cheilosis]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Fatigue]]<br />
* [[Headache]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Koilonychia]]<br />
* Conjunctival [[pallor]]<br />
* [[Xeroderma|Dry skin]]<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="left" style="background:#F5F5F5;" | <br />
* Pencil [[Cell (biology)|cells]]<br />
* [[Hereditary elliptocytosis|Elliptocytosis]]<br />
* Hypochromasia<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Lead poisoning]]<ref name="pmid25220013">{{cite journal |vauthors=Bain BJ |title=Lead poisoning |journal=Am. J. Hematol. |volume=89 |issue=12 |pages=1141 |date=December 2014 |pmid=25220013 |doi=10.1002/ajh.23852 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* House painted with chipped paint<br />
| align="left" style="background:#F5F5F5;" | <br />
* Burtonian lines<br />
* [[Basophilic]] [[Stippling (dentistry)|stippling]]<br />
* [[Wrist drop]]<br />
* [[Foot drop]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Wrist drop]]<br />
* [[Foot drop]]<br />
* Burtonian lines<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Intravascular|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl or ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl to ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl to ↓<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Red blood cell|RBCs]] retain aggregates of [[Ribosomal RNA|rRNA]]<br />
* Basophilic stippling<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Sideroblastic anemia]]<ref name="pmid25064706">{{cite journal |vauthors=Bottomley SS, Fleming MD |title=Sideroblastic anemia: diagnosis and management |journal=Hematol. Oncol. Clin. North Am. |volume=28 |issue=4 |pages=653–70, v |date=August 2014 |pmid=25064706 |doi=10.1016/j.hoc.2014.04.008 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* Defect in [[ALA synthase]] gene<br />
* [[Autosomal dominant]]<br />
* [[Autosomal recessive]] <br />
* [[X-linked]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Alcohol]] abuse <br />
* [[Isoniazid]] use<br />
* [[Chloramphenicol]] use <br />
* Lead poisoning<br />
* [[Idiopathic]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Seborrheic dermatitis]]<br />
* Glossy Tongue<br />
* [[Tingling]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Patient present with symptoms of [[Vitamin B6]], [[copper deficiency]] symptoms <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl or ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl to ↓<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Ringed [[Sideroblastic|sideroblasts]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Anemia of chronic disease]]<ref name="pmid21239806">{{cite journal |vauthors=Roy CN |title=Anemia of inflammation |journal=Hematology Am Soc Hematol Educ Program |volume=2010 |issue= |pages=276–80 |date=2010 |pmid=21239806 |doi=10.1182/asheducation-2010.1.276 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Rheumatoid arthritis]]<br />
* [[SLE]]<br />
* [[Neoplasm]]<br />
* [[Chronic kidney disease]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Headache]]<br />
* [[Shortness of breath]]<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl or ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | NA<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Thalassemia]]<ref name="pmid25500521">{{cite journal |vauthors=Zainal NZ, Alauddin H, Ahmad S, Hussin NH |title=α-Thalassemia with Haemoglobin Adana mutation: prenatal diagnosis |journal=Malays J Pathol |volume=36 |issue=3 |pages=207–11 |date=December 2014 |pmid=25500521 |doi= |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | '''[[Thalassemia|α-thalassemia]]'''<br />
* '''''α'''''- globin gene deletions<br />
* [[Cis]] deletions<br />
* [[Trans]] deletions<br />
'''[[Thalassemia|β-thalassemia]]'''<br />
* [[Point mutation]] in [[Splice site|splice sites]] and promoter sequences<br />
| align="left" style="background:#F5F5F5;" | <br />
* Associated with [[parvovirus B19]] <br />
| align="left" style="background:#F5F5F5;" | [[Thalassemia|'''α-thalassemia''']]<br />
* [[Hydrops fetalis]]<br />
[[Thalassemia|'''β-thalassemia''']]<br />
* [[Skeletal]] deformities<br />
* Chipmunk facies<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Hepatomegaly]]<br />
* [[Splenomegaly]] <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | [[Hypochromic anemia|Hypochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Microcytic anemia|Microcytic]]<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="left" style="background:#F5F5F5;" | <br />
* Thalassemia trait: Nl or ↓<br />
* Thalassemia Syndromes: ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl to ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl to ↑<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Target cell|Target cells]]<br />
* Anisopoikilocytosis<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Glucose 6 phosphate dehydrogenase deficiency|G6PD deficiency]]<ref name="pmid24372186">{{cite journal |vauthors=Luzzatto L, Seneca E |title=G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications |journal=Br. J. Haematol. |volume=164 |issue=4 |pages=469–80 |date=February 2014 |pmid=24372186 |pmc=4153881 |doi=10.1111/bjh.12665 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |<br />
* Defect in [[Glucose-6-phosphate dehydrogenase|G6PD]] enzyme<br />
* X-Linked [[recessive]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* History of using<br />
<br />
** [[Sulfonamide (medicine)|Sulfa drugs]]<br />
** [[Antimalarial drug|Antimalarials]]<br />
** [[Fava bean|Fava Beans]]<br />
* [[Infection|Infections]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Back pain]]<br />
* [[Hemoglobinuria]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Back pain]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" |Intrinsic<br />
| align="center" style="background:#F5F5F5;" |[[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" |[[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑ but usually causes resolution within 4-7 days<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl to ↑<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Red blood cell|RBC]] with [[Heinz bodies]]<br />
* Bite [[Cell (biology)|cells]]<br />
* Blister [[Cell (biology)|cells]]<br />
* <br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Pyruvate kinase deficiency]]<ref name="pmid26087744">{{cite journal |vauthors=Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B |title=Erythrocyte pyruvate kinase deficiency: 2015 status report |journal=Am. J. Hematol. |volume=90 |issue=9 |pages=825–30 |date=September 2015 |pmid=26087744 |pmc=5053227 |doi=10.1002/ajh.24088 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Mutation]] in the ''[[PKLR]]'' and ''[[PKM2|PKM]]'' gene<br />
* [[Autosomal recessive]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Gallstones]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Hydrops fetalis]]<br />
* [[Neonatal hyperbilirubinemia]]<br />
* [[Iron overload]]<br />
* [[Perinatal]] complications <br />
| align="left" style="background:#F5F5F5;" | <br />
* Skin [[ulcers]]<br />
* [[Splenomegaly]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Prickle [[cells]]<br />
* Polychromatophilic [[erythrocytes]] <br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Sickle-cell disease|Sickle cell anemia]]<ref name="pmid25431087">{{cite journal |vauthors=Singh PC, Ballas SK |title=Emerging drugs for sickle cell anemia |journal=Expert Opin Emerg Drugs |volume=20 |issue=1 |pages=47–61 |date=March 2015 |pmid=25431087 |doi=10.1517/14728214.2015.985587 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* Hbs [[point mutation]] causes a single [[Amino acid|amino acid]] replacement in β chain<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[High altitude]]<br />
* Low [[Oxygen]]<br />
* [[Acidosis]]<br />
* African-American race <br />
* [[Parvovirus B19]] infection<br />
| align="left" style="background:#F5F5F5;" | <br />
* Painful crisis<br />
** [[Dactylitis]]<br />
** [[Priapism]]<br />
** [[Acute chest syndrome]]<br />
** [[Avascular necrosis|Avascular Necrosis]]<br />
** [[Stroke]]<br />
* [[Autosplenectomy]]<br />
* [[Salmonella|Salmonella osteomyelitis]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Dactylitis]]<br />
* [[Priapism]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl or moderately ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl or moderately ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl <br />
| align="left" style="background:#F5F5F5;" | <br />
* Increased [[erythropoiesis]]<br />
* [[Howell-Jolly bodies]]<br />
* [[Anisocytosis]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |HbC disease<ref name="pmid25335812">{{cite journal |vauthors=Lemonne N, Billaud M, Waltz X, Romana M, Hierso R, Etienne-Julan M, Connes P |title=Rheology of red blood cells in patients with HbC disease |journal=Clin. Hemorheol. Microcirc. |volume=61 |issue=4 |pages=571–7 |date=2016 |pmid=25335812 |doi=10.3233/CH-141906 |url=}}</ref> <br />
| align="left" style="background:#F5F5F5;" | <br />
* Glutamic acid–to-lysine [[mutation]] in β-globin<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Gallstone]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Joint pains]]<br />
* Increased risk of [[Infection|infections]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Splenomegaly]]<br />
* [[Gallstone disease|Cholelithiasis]]<br />
* [[Avascular necrosis|Avascular necrosis of the femoral head]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl <br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Hemoglobin crystals inside [[RBCs]]<br />
* [[Target cell|Target cells]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Paroxysmal nocturnal hemoglobinuria]]<ref name="pmid1402472">{{cite journal |vauthors=Bunyaratvej A, Butthep P |title=Cytometric analysis of paroxysmal nocturnal hemoglobinuria erythrocytes |journal=J Med Assoc Thai |volume=75 Suppl 1 |issue= |pages=237–42 |date=January 1992 |pmid=1402472 |doi= |url=}}</ref><ref name="pmid25553278">{{cite journal |vauthors=Kahng J, Kim Y, Kim JO, Koh K, Lee JW, Han K |title=A novel marker for screening paroxysmal nocturnal hemoglobinuria using routine complete blood count and cell population data |journal=Ann Lab Med |volume=35 |issue=1 |pages=35–40 |date=January 2015 |pmid=25553278 |pmc=4272963 |doi=10.3343/alm.2015.35.1.35 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* [[PIGA]] gene mutations<br />
* Impaired synthesis of [[GPI anchor]] for [[decay-accelerating factor]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Associated with [[aplastic anemia]]<br />
* [[Thrombosis]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Fatigue]]<br />
* [[Chest pain]]<br />
* [[Dyspnea]] on exertion<br />
* [[Headache]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Hemolysis|Chronic hemolysis]] <br />
* [[Hepatomegaly]] <br />
* [[Ascites]]<br />
* [[Papilledema]] <br />
* Skin nodules<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | NA<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Hereditary spherocytosis]]<ref name="pmid23664421">{{cite journal |vauthors=Da Costa L, Galimand J, Fenneteau O, Mohandas N |title=Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders |journal=Blood Rev. |volume=27 |issue=4 |pages=167–78 |date=July 2013 |pmid=23664421 |doi=10.1016/j.blre.2013.04.003 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Mutations]] in [[Ankyrin]], [[Band 3]], [[Protein 4.2]], and [[spectrin]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Associated with [[parvovirus B19]]<br />
* [[Cholelithiasis]]<br />
* Megaloblastic crisis<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Aplastic crisis]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Splenomegaly]] <br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Intrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Small, round [[Red blood cell|RBC]]s with less surface area and no central pallor<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Microangiopathic hemolytic anemia]]<ref name="pmid26251142">{{cite journal |vauthors=Morishita E |title=[Diagnosis and treatment of microangiopathic hemolytic anemia] |language=Japanese |journal=Rinsho Ketsueki |volume=56 |issue=7 |pages=795–806 |date=July 2015 |pmid=26251142 |doi=10.11406/rinketsu.56.795 |url=}}</ref><ref name="pmid23390027">{{cite journal |vauthors=George JN, Charania RS |title=Evaluation of patients with microangiopathic hemolytic anemia and thrombocytopenia |journal=Semin. Thromb. Hemost. |volume=39 |issue=2 |pages=153–60 |date=March 2013 |pmid=23390027 |doi=10.1055/s-0032-1333538 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | Associated with<br />
* [[Disseminated intravascular coagulation|DIC]]<br />
* [[TTP]]<br />
* [[Hemolytic-uremic syndrome|HUS]]<br />
* [[SLE]]<br />
* [[HELLP syndrome]]<br />
* [[Hypertensive crisis|Hypertensive emergency]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Purpura]]<br />
* [[Confusion]] <br />
* [[Aphasia]]<br />
* [[Diplopia]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Paresthesia|Numbness]] of an arm or hand<br />
* [[Jaundice]]<br />
* [[Pallor|Pale conjunctiva]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Extrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* Helmet cells<br />
|-<br />
! align="center" style="background:#DCDCDC;" |Macroangiopathic hemolytic anemia<ref name="pmid5108522">{{cite journal |vauthors=Westphal RG, Azen EA |title=Macroangiopathic hemolytic anemia due to congenital cardiovascular anomalies |journal=JAMA |volume=216 |issue=9 |pages=1477–8 |date=May 1971 |pmid=5108522 |doi= |url=}}</ref> <br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Autoimmunity|Autoimmune]] <br />
| align="left" style="background:#F5F5F5;" | Associated with<br />
* [[Artificial heart valve|Prosthetic heart valves]]<br />
* [[Aortic stenosis]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Pallor]]<br />
* [[Fatigue]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Signs of [[anemia]]<br />
* Complications of [[hemolysis]]<br />
* Decreased vascular volume<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Extrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Spherocytosis|Spherocytes]] or [[Red blood cell|schistocytes]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Autoimmune hemolytic anemia]]<ref name="pmid26447931">{{cite journal |vauthors=Hill QA |title=Autoimmune hemolytic anemia |journal=Hematology |volume=20 |issue=9 |pages=553–4 |date=October 2015 |pmid=26447931 |doi=10.1179/1024533215Z.000000000401 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | Associated with:<br />
* [[SLE]]<br />
* [[Chronic lymphocytic leukemia|CLL]]<br />
* [[Mycoplasma pneumonia]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* Painful blue fingers and toes on exposure to cold temperature<br />
* [[Chest pain]]<br />
* [[Rigor|Chills]]<br />
* [[Dizziness]]<br />
* [[Tachycardia]]<br />
* [[Headache]]<br />
* [[Fatigue]] <br />
| align="left" style="background:#F5F5F5;" | <br />
* Painful, blue fingers and toes with cold weather<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Extrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Red blood cell|RBC]] agglutination<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Aplastic anemia]]<ref name="pmid24424170">{{cite journal |vauthors=Dolberg OJ, Levy Y |title=Idiopathic aplastic anemia: diagnosis and classification |journal=Autoimmun Rev |volume=13 |issue=4-5 |pages=569–73 |date=2014 |pmid=24424170 |doi=10.1016/j.autrev.2014.01.014 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" | <br />
* Constitutive expression of Tbet<br />
* [[Mutation|Mutations]] in the [[perforin]] gene<br />
* Mutations in ''SAP'' gene<br />
| align="left" style="background:#F5F5F5;" | <br />
* Exposure to [[Radiation]]<br />
* Drugs like [[Benzene]], [[chloramphenicol]], [[Alkylating agent|alkylating agents]] <br />
* Viral infections like [[EBV]], [[HIV]], [[Hepatitis]]<br />
* [[Fanconi anemia]]<br />
* Idiopathic like [[Immune]] mediated, primary stem cell defect<br />
| align="left" style="background:#F5F5F5;" | <br />
* Symptoms based on underlying condition<br />
| align="left" style="background:#F5F5F5;" | <br />
* Short stature<br />
* [[Cafe-au-lait spots]]<br />
* Thumb defects<br />
* [[Radius (bone)|Radial]] defects<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |[[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" |[[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Pancytopenia]]<br />
* Fatty [[Infiltration (medical)|infiltration]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Folate deficiency]]<ref name="pmid25663227">{{cite journal |vauthors=Koike H, Takahashi M, Ohyama K, Hashimoto R, Kawagashira Y, Iijima M, Katsuno M, Doi H, Tanaka F, Sobue G |title=Clinicopathologic features of folate-deficiency neuropathy |journal=Neurology |volume=84 |issue=10 |pages=1026–33 |date=March 2015 |pmid=25663227 |doi=10.1212/WNL.0000000000001343 |url=}}</ref> <br />
| align="left" style="background:#F5F5F5;" |<br />
* Impaired [[DNA]] synthesis<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Long-term effects of alcohol|Alcohol consumption]]<br />
* History of using drugs like [[methotrexate]], [[trimethoprim]], and [[phenytoin]]<br />
* Low socioeconomic groups with poor nutrition<br />
* Older people<br />
* [[Pregnancy|Pregnant]] and [[lactating]] women<br />
| align="left" style="background:#F5F5F5;" |<br />
* No neurological symptoms vs [[Vitamin B12 deficiency|B12 deficiency]]<br />
* [[Odinophagia|Odynophagia]]<br />
* [[Stomatitis|Angular stomatitis]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Glossitis]]<br />
* Signs of [[Congestive heart failure|heart failure]]<br />
* [[Anencephaly]] and [[spina bifida]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic <br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Macrocytosis|RBC macrocytosis]]<br />
* [[Neutrophil|Hypersegmented neutrophils]]<br />
* [[Pancytopenia]] in severe cases <br />
* <br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Vitamin B12 deficiency]]<ref name="pmid25189324">{{cite journal |vauthors=Hunt A, Harrington D, Robinson S |title=Vitamin B12 deficiency |journal=BMJ |volume=349 |issue= |pages=g5226 |date=September 2014 |pmid=25189324 |doi= |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |<br />
* Impaired [[DNA synthesis]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Pernicious anemia]]<br />
* [[Crohn's disease]]<br />
* [[Gastrectomy]]<br />
* [[Vegan|Veganism]]<br />
* [[Diphyllobothrium|Diphyllobothrium latum]] infection<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Psychosis]]<br />
* [[Insomnia]]<br />
* [[Depression]]<br />
* Cognitive slowing<br />
* [[Restless leg syndrome]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* Neurological deficit<br />
* [[Myelopathy]] <br />
* [[Memory loss]] with reduced attention span <br />
* [[Nystagmus]]<br />
* Positive [[Romberg test|romberg sign]]<br />
* Positive [[Lhermitte's sign]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Senile]] [[neutrophil]]<br />
* [[Anisocytosis]] <br />
* [[Ovalocytosis|Ovalocytes]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Orotic aciduria]]<ref name="pmid25757096">{{cite journal |vauthors=Grohmann K, Lauffer H, Lauenstein P, Hoffmann GF, Seidlitz G |title=Hereditary orotic aciduria with epilepsy and without megaloblastic anemia |journal=Neuropediatrics |volume=46 |issue=2 |pages=123–5 |date=April 2015 |pmid=25757096 |doi=10.1055/s-0035-1547341 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Autosomal recessive]]<br />
* Deficiency of enzyme [[Uridine monophosphate synthetase|UMPS]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* Episodic [[Nausea and vomiting|vomiting]]<br />
* [[Rhabdomyolysis]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Coma]]<br />
* [[Gastrointestinal tract|Gastrointestinal]] manifestation<br />
| align="left" style="background:#F5F5F5;" |<br />
* Neurological manifestation<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |NA<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Fanconi anemia]]<ref name="pmid25455269">{{cite journal |vauthors=Alter BP |title=Fanconi anemia and the development of leukemia |journal=Best Pract Res Clin Haematol |volume=27 |issue=3-4 |pages=214–21 |date=2014 |pmid=25455269 |pmc=4254647 |doi=10.1016/j.beha.2014.10.002 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Autosomal recessive]]<br />
* [[X-linked recessive]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* History of [[anemia]] at age 16<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Hypopigmentation]]<br />
* [[Café au lait spot|Cafe-au-lait patches]]<br />
* Radial ray anomaly<br />
| align="left" style="background:#F5F5F5;" |<br />
* Significant for bilateral short thumbs <br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* Nl appearing [[White blood cells|WBC]], [[Red blood cell|RBC]] and [[Platelet|Platelets]]<br />
* But the number is greatly reduced<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Diamond-Blackfan anemia]]<ref name="pmid24665981">{{cite journal |vauthors=Vlachos A, Blanc L, Lipton JM |title=Diamond Blackfan anemia: a model for the translational approach to understanding human disease |journal=Expert Rev Hematol |volume=7 |issue=3 |pages=359–72 |date=June 2014 |pmid=24665981 |doi=10.1586/17474086.2014.897923 |url=}}</ref><br />
| align="left" style="background:#F5F5F5;" |Mutations in:<br />
* ''RPL5''<br />
* ''RPL11''<br />
* ''RPL35A''<br />
* ''RPS7''<br />
* ''RPS10''<br />
* ''RPS17''<br />
* ''RPS19''<br />
* ''RPS24''<br />
* ''RPS26''<br />
| align="left" style="background:#F5F5F5;" |<br />
* Associated with [[myelodysplastic syndrome]]<br />
* Increased risk of [[AML]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Pale skin]]<br />
* Sleepiness<br />
* [[Murmur|Heart murmurs]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* Triphalangeal thumbs<br />
* [[Short stature]]<br />
* [[Microcephaly]]<br />
* [[Hypertelorism]]<br />
* [[Ptosis]]<br />
* [[Micrognathia]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |NA<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Infection|Infections]]<ref name="pmid23324217">{{cite journal |vauthors=Bustinduy AL, Parraga IM, Thomas CL, Mungai PL, Mutuku F, Muchiri EM, Kitron U, King CH |title=Impact of polyparasitic infections on anemia and undernutrition among Kenyan children living in a Schistosoma haematobium-endemic area |journal=Am. J. Trop. Med. Hyg. |volume=88 |issue=3 |pages=433–40 |date=March 2013 |pmid=23324217 |pmc=3592521 |doi=10.4269/ajtmh.12-0552 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | Associated with<br />
* [[Malaria]]<br />
* [[Babesia]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Fever]]<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Fever]]<br />
* Signs of [[shock]]<br />
* [[Headache]]<br />
| align="center" style="background:#F5F5F5;" | +<br />
| align="center" style="background:#F5F5F5;" | Extrinsic<br />
| align="center" style="background:#F5F5F5;" | [[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" | [[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↑<br />
| align="center" style="background:#F5F5F5;" | ↓<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | Nl<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="left" style="background:#F5F5F5;" | <br />
* [[Trophozoite]]<br />
* Maltese crosses <br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Chronic renal failure|Chronic kidney disease]]<ref name="pmid26030647">{{cite journal |vauthors=Drawz P, Rahman M |title=Chronic kidney disease |journal=Ann. Intern. Med. |volume=162 |issue=11 |pages=ITC1–16 |date=June 2015 |pmid=26030647 |doi=10.7326/AITC201506020 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Pericarditis]]<br />
* [[Encephalopathy]]<br />
* [[Incontinence|Rectal incontinence]]<br />
* Decreased [[libido]]<br />
* [[Restless legs syndrome|Restless leg syndrome]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Polyuria]]<br />
* [[Hematuria]]<br />
* [[Edema]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Hypertension]]<br />
| align="center" style="background:#F5F5F5;" | −<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |[[Normochromic anemia|Normochromic]]<br />
| align="center" style="background:#F5F5F5;" |[[Normocytic anemia|Normocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |Nl/↑<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Hepato-biliary diseases|Liver disease]]<ref name="pmid23953338">{{cite journal |vauthors=Marks PW |title=Hematologic manifestations of liver disease |journal=Semin. Hematol. |volume=50 |issue=3 |pages=216–21 |date=July 2013 |pmid=23953338 |doi=10.1053/j.seminhematol.2013.06.003 |url=}}</ref> <br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Hepatitis]]<br />
* Binge drinking<br />
* Gall bladder disease<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Jaundice]]<br />
* [[Abdominal pain]]<br />
* [[Itchy skin]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Ascites]]<br />
* Right upper quadrant pain<br />
* [[Hepatomegaly]]<br />
* [[Edema|Swelling]] in the legs<br />
* [[Ankle swelling]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Macrocyte|Round macrocytes]]<br />
* [[Macrocyte|Target macrocytes]]<br />
|-<br />
! align="center" style="background:#DCDCDC;" |[[Alcoholism]]<ref name="pmid24588059">{{cite journal |vauthors=Yokoyama A, Yokoyama T, Brooks PJ, Mizukami T, Matsui T, Kimura M, Matsushita S, Higuchi S, Maruyama K |title=Macrocytosis, macrocytic anemia, and genetic polymorphisms of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 in Japanese alcoholic men |journal=Alcohol. Clin. Exp. Res. |volume=38 |issue=5 |pages=1237–46 |date=May 2014 |pmid=24588059 |doi=10.1111/acer.12372 |url=}}</ref><br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="left" style="background:#F5F5F5;" |<br />
* History of increased [[Effects of alcohol on the body|alcohol intake]]<br />
* [[Folic acid deficiency]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Memory impairment]]<br />
* [[Nausea]]<br />
* [[Sweating]]<br />
| align="left" style="background:#F5F5F5;" |<br />
* Truncal [[obesity]]<br />
* [[Asterixis]] <br />
* [[Encephalopathy]]<br />
* [[Spider angiomas]]<br />
* [[Hematemesis]]<br />
* [[Gynecomastia]]<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |−<br />
| align="center" style="background:#F5F5F5;" |Anisochromic<br />
| align="center" style="background:#F5F5F5;" |[[Macrocytic anemia|Macrocytic]]<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |Nl<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↓<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="center" style="background:#F5F5F5;" |↑<br />
| align="left" style="background:#F5F5F5;" |<br />
* [[Macrocyte|Oval macrocytes]]<br />
* [[Neutrophil|Hypersegmented neutrophils]]<br />
|-<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genetics<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |History<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hemolysis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Intrinsic/<br />
Extrinsic<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb concentration<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |MCV<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RDW<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Reticulocytosis<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Haptoglobin levels<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepcidin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum iron<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Tfr level<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |IBC<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Ferritin<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Transferrin saturation<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specific finding on blood smear<br />
|}<br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Hematology]]<br />
[[Category:Gastroenterology]]<br />
[[Category:Primary care]]<br />
[[Category:Endocrinology]]<br />
<br />
{{WH}}<br />
{{WS}}</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_overview&diff=1544327
Merkel cell cancer overview
2019-01-31T19:30:06Z
<p>Sargun Walia: /* Natural History, Complications and Prognosis */</p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}}; {{AE}} {{VKG}} {{AAM}}<br />
<br />
==Overview==<br />
Merkel cell carcinoma is a very rare and highly aggressive [[cutaneous]] [[cancer]]. This cancer is a type of [[neuroendocrine tumor]], like [[small cell lung cancer]]. Merkel cell carcinoma is the most serious form of [[skin cancer]]. when merkel cell carcinoma metastasized to the [[lymph nodes]], the average 5-year survival rate for a patient with merkel cell carcinoma is less than 50 percent. Recurrence may occur in up to half of all the patients with merkel cell carcinoma. Merkel cell cancer usually occurs on either the face, head, or neck. Patients with merkel cell carcinoma usually present with a rapid growing, firm, painless, red/violaceous skin [[lesion]]. Merkel cell carcinoma usually [[metastasize]]s first to regional [[lymph nodes]] and then to other organs, and spreads to other parts of the body, especially the [[liver]], [[lungs]], [[brain]] and [[bone]]s. The predominant therapy for merkel cell carcinoma is surgical resection, but chemoradiation may also be required in more advanced disease.<br />
<br />
==Historical Perspective==<br />
[[Merkel cell]] was first discovered by Freidrich Sigmund Merkel and also mentioned by Cyril Toker, in 1972.Merkel cell polyomavirus, the pathogen responsible for Merkel cell cancer, was first discovered in 2008.<br />
==Classification==<br />
Merkel cell carcinoma is classified into 3 subgroups: Trabecular, intermediate, and small cell.<br />
<br />
==Pathophysiology==<br />
It is understood that merkel cell cancer is the result caused by either [[merkel cell]] [[polyomavirus]], [[ultraviolet]] (UV), [[radiation exposure]] and [[immunosuppression]].<br />
<br />
==Causes==<br />
Common causes of merkel cell carcinoma include [[merkel cell]] [[polyomavirus]], age, skin tone, exposure to [[sunlight]] and history of [[immunosuppression]].<br />
==Differential Diagnosis==<br />
Merkel cell cancer must be differentiated from other skin lesions, such as [[basal cell carcinoma]], [[squamous cell carcinoma]], [[malignant melanoma]], [[lymphoma]], vascular tumors, and other benign skin tumors.<br />
==Epidemiology and Demographics==<br />
The [[incidence]] of merkel cell carcinoma ranges from 0.15 to 0.44 per 100,000 individuals. The [[median]] age at diagnosis is approximately 65 years. Merkel cell carcinoma is more common among males and individuals of Caucasian race.<br />
==Risk Factors==<br />
Risk factors for the development of [[merkel cell cancer]] include old age, male gender, caucasian race, chronic exposure to [[sunlight]], [[immunodeficiency]], and personal history of [[cancer]].<br />
==Screening==<br />
According to the [[USPSTF|U.S. Preventive Service Task Force (USPSTF)]], there is insufficient evidence to recommend routine screening for [[skin cancers]], including merkel cell cancer.<br />
<br />
==Natural History, Complications and Prognosis==<br />
Merkel cell cancer is an aggressive [[cutaneous]] cancer that grows very rapidly. Merkel cell cancer usually [[Metastasis|metastasizes]] first to regional [[Lymph node|lymph nodes]]. Merkel cell cancer is a highly aggressive [[tumor]] with a [[mortality]] rate that approaches 30% to 40% within 3 years of diagnosis.<br />
<br />
==Diagnosis==<br />
===Staging===<br />
The staging of merkel cell cancer is based on the [[TNM staging system]].<br />
===History and Symptoms===<br />
Patients with merkel cell carcinoma usually present with a rapid growing, painless, small [[mass]] that is typically located on sun exposed area of the body.<br />
===Physical Examination===<br />
Physical exam findings of merkel cell cancer include red/violaceous skin [[mass]] that appear in [[Sun exposure|sun]] exposed areas.<br />
===Laboratory Findings===<br />
Laboratory findings consistent with the diagnosis of merkel cell cancer include [[immunohistochemistry]], [[Cytogenetics|cytogenetic]] and [[molecular]] analysis, and [[Lymph node biopsy|lymph node biopsy.]] .<br />
===CT===<br />
[[Computed tomography|CT scan]] is useful in detecting [[metastasis]] to organs and regional lymph nodes in merkel cell carcinoma.<br />
===Other Imaging Findings===<br />
[[Positron emission tomography]] ([[Positron emission tomography|PET]]) imaging may be used for the staging of merkel cell cancer.<br />
===Other Diagnostic Studies===<br />
Other diagnostic studies for merkel cell cancer include [[skin biopsy]], which demonstrates positive [[Keratin 20|cytokeratin-20]] , and [[electron microscopy]], which demonstrates [[granules]], and [[cytoplasmic]] extensions.<br />
==Treatment==<br />
===Medical Therapy===<br />
The predominant therapy for merkel cell cancer is surgical resection. Adjunctive chemoradiation and adjuvant [[immunotherapy]] may also be required in more advanced disease.<br />
<br />
<br />
===Surgery===<br />
The majority of cases of Merkel cell cancer are treated with [[Cancer#Surgery|surgery]].<br />
<br />
===Primary Prevention===<br />
[[Primary prevention]] of merkel cell cancer includes avoidance of excessive [[sun exposure]] and use of [[sunscreen]].<br />
===Secondary Prevention===<br />
There are no established measures for the [[secondary prevention]] of merkel cell cancer.<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
<br />
{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_overview&diff=1544326
Merkel cell cancer overview
2019-01-31T19:28:32Z
<p>Sargun Walia: /* Screening */</p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}}; {{AE}} {{VKG}} {{AAM}}<br />
<br />
==Overview==<br />
Merkel cell carcinoma is a very rare and highly aggressive [[cutaneous]] [[cancer]]. This cancer is a type of [[neuroendocrine tumor]], like [[small cell lung cancer]]. Merkel cell carcinoma is the most serious form of [[skin cancer]]. when merkel cell carcinoma metastasized to the [[lymph nodes]], the average 5-year survival rate for a patient with merkel cell carcinoma is less than 50 percent. Recurrence may occur in up to half of all the patients with merkel cell carcinoma. Merkel cell cancer usually occurs on either the face, head, or neck. Patients with merkel cell carcinoma usually present with a rapid growing, firm, painless, red/violaceous skin [[lesion]]. Merkel cell carcinoma usually [[metastasize]]s first to regional [[lymph nodes]] and then to other organs, and spreads to other parts of the body, especially the [[liver]], [[lungs]], [[brain]] and [[bone]]s. The predominant therapy for merkel cell carcinoma is surgical resection, but chemoradiation may also be required in more advanced disease.<br />
<br />
==Historical Perspective==<br />
[[Merkel cell]] was first discovered by Freidrich Sigmund Merkel and also mentioned by Cyril Toker, in 1972.Merkel cell polyomavirus, the pathogen responsible for Merkel cell cancer, was first discovered in 2008.<br />
==Classification==<br />
Merkel cell carcinoma is classified into 3 subgroups: Trabecular, intermediate, and small cell.<br />
<br />
==Pathophysiology==<br />
It is understood that merkel cell cancer is the result caused by either [[merkel cell]] [[polyomavirus]], [[ultraviolet]] (UV), [[radiation exposure]] and [[immunosuppression]].<br />
<br />
==Causes==<br />
Common causes of merkel cell carcinoma include [[merkel cell]] [[polyomavirus]], age, skin tone, exposure to [[sunlight]] and history of [[immunosuppression]].<br />
==Differential Diagnosis==<br />
Merkel cell cancer must be differentiated from other skin lesions, such as [[basal cell carcinoma]], [[squamous cell carcinoma]], [[malignant melanoma]], [[lymphoma]], vascular tumors, and other benign skin tumors.<br />
==Epidemiology and Demographics==<br />
The [[incidence]] of merkel cell carcinoma ranges from 0.15 to 0.44 per 100,000 individuals. The [[median]] age at diagnosis is approximately 65 years. Merkel cell carcinoma is more common among males and individuals of Caucasian race.<br />
==Risk Factors==<br />
Risk factors for the development of [[merkel cell cancer]] include old age, male gender, caucasian race, chronic exposure to [[sunlight]], [[immunodeficiency]], and personal history of [[cancer]].<br />
==Screening==<br />
According to the [[USPSTF|U.S. Preventive Service Task Force (USPSTF)]], there is insufficient evidence to recommend routine screening for [[skin cancers]], including merkel cell cancer.<br />
<br />
==Natural History, Complications and Prognosis==<br />
[[Merkel cell cancer]] is an aggressive [[cutaneous]] cancer that grows very rapidly. [[Merkel cell cancer]] usually [[Metastasis|metastasizes]] first to regional [[Lymph node|lymph nodes]]. [[Merkel cell cancer]] is a highly aggressive tumor with a [[mortality]] rate that approaches 30% to 40% within 3 years of diagnosis.<br />
<br />
==Diagnosis==<br />
===Staging===<br />
The staging of [[merkel cell cancer]] is based on the [[TNM staging system]].<br />
===History and Symptoms===<br />
Patients with [[merkel cell carcinoma]] usually present with a rapid growing, painless, small [[mass]] that is typically located on sun exposed area of the body.<br />
===Physical Examination===<br />
Physical exam findings of [[merkel cell cancer]] include red/violaceous skin [[mass]] that appear in [[Sun exposure|sun]] exposed areas.<br />
===Laboratory Findings===<br />
Laboratory findings consistent with the diagnosis of [[merkel cell cancer]] include [[immunohistochemistry]], [[Cytogenetics|cytogenetic]] and [[molecular]] analysis, and [[Lymph node biopsy|lymph node biopsy.]] .<br />
===CT===<br />
[[Computed tomography|CT scan]] is useful in detecting [[metastasis]] to organs and regional lymph nodes in [[merkel cell carcinoma]].<br />
===Other Imaging Findings===<br />
[[Positron emission tomography]] ([[Positron emission tomography|PET]]) imaging may be used for the staging of [[merkel cell cancer]].<br />
===Other Diagnostic Studies===<br />
Other diagnostic studies for [[merkel cell cancer]] include [[skin biopsy]], which demonstrates positive [[Keratin 20|cytokeratin-20]] , and [[electron microscopy]], which demonstrates [[granules]], and [[cytoplasmic]] extensions.<br />
==Treatment==<br />
===Medical Therapy===<br />
The predominant therapy for [[merkel cell cancer]]<nowiki/>r is surgical resection. Adjunctive chemoradiation and adjuvant [[immunotherapy]] may also be required in more advanced disease.<br />
===Surgery===<br />
The majority of cases of Merkel cell cancer are treated with [[Cancer#Surgery|surgery]].<br />
<br />
===Primary Prevention===<br />
[[Primary prevention]] of [[merkel cell cancer]] includes avoidance of excessive [[sun exposure]] and use of [[sunscreen]].<br />
===Secondary Prevention===<br />
There are no established measures for the [[secondary prevention]] of [[merkel cell cancer]].<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
<br />
{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_overview&diff=1544324
Merkel cell cancer overview
2019-01-31T19:27:23Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}}; {{AE}} {{VKG}} {{AAM}}<br />
<br />
==Overview==<br />
Merkel cell carcinoma is a very rare and highly aggressive [[cutaneous]] [[cancer]]. This cancer is a type of [[neuroendocrine tumor]], like [[small cell lung cancer]]. Merkel cell carcinoma is the most serious form of [[skin cancer]]. when merkel cell carcinoma metastasized to the [[lymph nodes]], the average 5-year survival rate for a patient with merkel cell carcinoma is less than 50 percent. Recurrence may occur in up to half of all the patients with merkel cell carcinoma. Merkel cell cancer usually occurs on either the face, head, or neck. Patients with merkel cell carcinoma usually present with a rapid growing, firm, painless, red/violaceous skin [[lesion]]. Merkel cell carcinoma usually [[metastasize]]s first to regional [[lymph nodes]] and then to other organs, and spreads to other parts of the body, especially the [[liver]], [[lungs]], [[brain]] and [[bone]]s. The predominant therapy for merkel cell carcinoma is surgical resection, but chemoradiation may also be required in more advanced disease.<br />
<br />
==Historical Perspective==<br />
[[Merkel cell]] was first discovered by Freidrich Sigmund Merkel and also mentioned by Cyril Toker, in 1972.Merkel cell polyomavirus, the pathogen responsible for Merkel cell cancer, was first discovered in 2008.<br />
==Classification==<br />
Merkel cell carcinoma is classified into 3 subgroups: Trabecular, intermediate, and small cell.<br />
<br />
==Pathophysiology==<br />
It is understood that merkel cell cancer is the result caused by either [[merkel cell]] [[polyomavirus]], [[ultraviolet]] (UV), [[radiation exposure]] and [[immunosuppression]].<br />
<br />
==Causes==<br />
Common causes of merkel cell carcinoma include [[merkel cell]] [[polyomavirus]], age, skin tone, exposure to [[sunlight]] and history of [[immunosuppression]].<br />
==Differential Diagnosis==<br />
Merkel cell cancer must be differentiated from other skin lesions, such as [[basal cell carcinoma]], [[squamous cell carcinoma]], [[malignant melanoma]], [[lymphoma]], vascular tumors, and other benign skin tumors.<br />
==Epidemiology and Demographics==<br />
The [[incidence]] of merkel cell carcinoma ranges from 0.15 to 0.44 per 100,000 individuals. The [[median]] age at diagnosis is approximately 65 years. Merkel cell carcinoma is more common among males and individuals of Caucasian race.<br />
==Risk Factors==<br />
Risk factors for the development of [[merkel cell cancer]] include old age, male gender, caucasian race, chronic exposure to [[sunlight]], [[immunodeficiency]], and personal history of [[cancer]].<br />
==Screening==<br />
According to the U.S. Preventive Service Task Force (USPSTF), there is insufficient evidence to recommend routine screening for [[skin cancers]], including [[merkel cell cancer]].<br />
<br />
==Natural History, Complications and Prognosis==<br />
[[Merkel cell cancer]] is an aggressive [[cutaneous]] cancer that grows very rapidly. [[Merkel cell cancer]] usually [[Metastasis|metastasizes]] first to regional [[Lymph node|lymph nodes]]. [[Merkel cell cancer]] is a highly aggressive tumor with a [[mortality]] rate that approaches 30% to 40% within 3 years of diagnosis.<br />
<br />
==Diagnosis==<br />
===Staging===<br />
The staging of [[merkel cell cancer]] is based on the [[TNM staging system]].<br />
===History and Symptoms===<br />
Patients with [[merkel cell carcinoma]] usually present with a rapid growing, painless, small [[mass]] that is typically located on sun exposed area of the body.<br />
===Physical Examination===<br />
Physical exam findings of [[merkel cell cancer]] include red/violaceous skin [[mass]] that appear in [[Sun exposure|sun]] exposed areas.<br />
===Laboratory Findings===<br />
Laboratory findings consistent with the diagnosis of [[merkel cell cancer]] include [[immunohistochemistry]], [[Cytogenetics|cytogenetic]] and [[molecular]] analysis, and [[Lymph node biopsy|lymph node biopsy.]] .<br />
===CT===<br />
[[Computed tomography|CT scan]] is useful in detecting [[metastasis]] to organs and regional lymph nodes in [[merkel cell carcinoma]].<br />
===Other Imaging Findings===<br />
[[Positron emission tomography]] ([[Positron emission tomography|PET]]) imaging may be used for the staging of [[merkel cell cancer]].<br />
===Other Diagnostic Studies===<br />
Other diagnostic studies for [[merkel cell cancer]] include [[skin biopsy]], which demonstrates positive [[Keratin 20|cytokeratin-20]] , and [[electron microscopy]], which demonstrates [[granules]], and [[cytoplasmic]] extensions.<br />
==Treatment==<br />
===Medical Therapy===<br />
The predominant therapy for [[merkel cell cancer]]<nowiki/>r is surgical resection. Adjunctive chemoradiation and adjuvant [[immunotherapy]] may also be required in more advanced disease.<br />
===Surgery===<br />
The majority of cases of Merkel cell cancer are treated with [[Cancer#Surgery|surgery]].<br />
<br />
===Primary Prevention===<br />
[[Primary prevention]] of [[merkel cell cancer]] includes avoidance of excessive [[sun exposure]] and use of [[sunscreen]].<br />
===Secondary Prevention===<br />
There are no established measures for the [[secondary prevention]] of [[merkel cell cancer]].<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
<br />
{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_overview&diff=1544323
Merkel cell cancer overview
2019-01-31T19:26:30Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}}; {{AE}} {{VKG}} {{AAM}}<br />
<br />
==Overview==<br />
Merkel cell carcinoma is a very rare and highly aggressive [[cutaneous]] [[cancer]]. This cancer is a type of [[neuroendocrine tumor]], like [[small cell lung cancer]]. Merkel cell carcinoma is the most serious form of [[skin cancer]]. when merkel cell carcinoma metastasized to the [[lymph nodes]], the average 5-year survival rate for a patient with merkel cell carcinoma is less than 50 percent. Recurrence may occur in up to half of all the patients with merkel cell carcinoma. Merkel cell cancer usually occurs on either the face, head, or neck. Patients with merkel cell carcinoma usually present with a rapid growing, firm, painless, red/violaceous skin [[lesion]]. Merkel cell carcinoma usually [[metastasize]]s first to regional [[lymph nodes]] and then to other organs, and spreads to other parts of the body, especially the [[liver]], [[lungs]], [[brain]] and [[bone]]s. The predominant therapy for merkel cell carcinoma is surgical resection, but chemoradiation may also be required in more advanced disease.<br />
<br />
==Historical Perspective==<br />
[[Merkel cell]] was first discovered by Freidrich Sigmund Merkel and also mentioned by Cyril Toker, in 1972.Merkel cell polyomavirus, the pathogen responsible for Merkel cell cancer, was first discovered in 2008.<br />
==Classification==<br />
Merkel cell carcinoma is classified into 3 subgroups: Trabecular, intermediate, and small cell.<br />
<br />
==Pathophysiology==<br />
It is understood that merkel cell cancer is the result caused by either [[merkel cell]] [[polyomavirus]], [[ultraviolet]] (UV), [[radiation exposure]] and [[immunosuppression]].<br />
<br />
==Causes==<br />
Common causes of [[merkel cell carcinoma]] include [[merkel cell]] [[polyomavirus]], age, skin tone, exposure to [[sunlight]] and history of [[immunosuppression]].<br />
==Differential Diagnosis==<br />
[[Merkel cell cancer]] must be differentiated from other skin lesions, such as [[basal cell carcinoma]], [[squamous cell carcinoma]], [[malignant melanoma]], [[lymphoma]], vascular tumors, and other benign skin tumors.<br />
==Epidemiology and Demographics==<br />
The [[incidence]] of [[merkel cell carcinoma]] ranges from 0.15 to 0.44 per 100,000 individuals. The median age at diagnosis is approximately 65 years. [[Merkel cell carcinoma]] is more common among males and individuals of Caucasian race.<br />
==Risk Factors==<br />
Risk factors for the development of [[merkel cell cancer]] include old age, male gender, caucasian race, chronic exposure to [[sunlight]], [[immunodeficiency]], and personal history of [[cancer]].<br />
==Screening==<br />
According to the U.S. Preventive Service Task Force (USPSTF), there is insufficient evidence to recommend routine screening for [[skin cancers]], including [[merkel cell cancer]].<br />
<br />
==Natural History, Complications and Prognosis==<br />
[[Merkel cell cancer]] is an aggressive [[cutaneous]] cancer that grows very rapidly. [[Merkel cell cancer]] usually [[Metastasis|metastasizes]] first to regional [[Lymph node|lymph nodes]]. [[Merkel cell cancer]] is a highly aggressive tumor with a [[mortality]] rate that approaches 30% to 40% within 3 years of diagnosis.<br />
<br />
==Diagnosis==<br />
===Staging===<br />
The staging of [[merkel cell cancer]] is based on the [[TNM staging system]].<br />
===History and Symptoms===<br />
Patients with [[merkel cell carcinoma]] usually present with a rapid growing, painless, small [[mass]] that is typically located on sun exposed area of the body.<br />
===Physical Examination===<br />
Physical exam findings of [[merkel cell cancer]] include red/violaceous skin [[mass]] that appear in [[Sun exposure|sun]] exposed areas.<br />
===Laboratory Findings===<br />
Laboratory findings consistent with the diagnosis of [[merkel cell cancer]] include [[immunohistochemistry]], [[Cytogenetics|cytogenetic]] and [[molecular]] analysis, and [[Lymph node biopsy|lymph node biopsy.]] .<br />
===CT===<br />
[[Computed tomography|CT scan]] is useful in detecting [[metastasis]] to organs and regional lymph nodes in [[merkel cell carcinoma]].<br />
===Other Imaging Findings===<br />
[[Positron emission tomography]] ([[Positron emission tomography|PET]]) imaging may be used for the staging of [[merkel cell cancer]].<br />
===Other Diagnostic Studies===<br />
Other diagnostic studies for [[merkel cell cancer]] include [[skin biopsy]], which demonstrates positive [[Keratin 20|cytokeratin-20]] , and [[electron microscopy]], which demonstrates [[granules]], and [[cytoplasmic]] extensions.<br />
==Treatment==<br />
===Medical Therapy===<br />
The predominant therapy for [[merkel cell cancer]]<nowiki/>r is surgical resection. Adjunctive chemoradiation and adjuvant [[immunotherapy]] may also be required in more advanced disease.<br />
===Surgery===<br />
The majority of cases of Merkel cell cancer are treated with [[Cancer#Surgery|surgery]].<br />
<br />
===Primary Prevention===<br />
[[Primary prevention]] of [[merkel cell cancer]] includes avoidance of excessive [[sun exposure]] and use of [[sunscreen]].<br />
===Secondary Prevention===<br />
There are no established measures for the [[secondary prevention]] of [[merkel cell cancer]].<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
<br />
{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
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Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_overview&diff=1544322
Merkel cell cancer overview
2019-01-31T19:25:57Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}}; {{AE}} {{VKG}} {{AAM}}<br />
<br />
==Overview==<br />
Merkel cell carcinoma is a very rare and highly aggressive [[cutaneous]] [[cancer]]. This cancer is a type of [[neuroendocrine tumor]], like [[small cell lung cancer]]. Merkel cell carcinoma is the most serious form of [[skin cancer]]. when merkel cell carcinoma metastasized to the [[lymph nodes]], the average 5-year survival rate for a patient with merkel cell carcinoma is less than 50 percent. Recurrence may occur in up to half of all the patients with merkel cell carcinoma. Merkel cell cancer usually occurs on either the face, head, or neck. Patients with merkel cell carcinoma usually present with a rapid growing, firm, painless, red/violaceous skin [[lesion]]. Merkel cell carcinoma usually [[metastasize]]s first to regional [[lymph nodes]] and then to other organs, and spreads to other parts of the body, especially the [[liver]], [[lungs]], [[brain]] and [[bone]]s. The predominant therapy for merkel cell carcinoma is surgical resection, but chemoradiation may also be required in more advanced disease.<br />
<br />
==Historical Perspective==<br />
[[Merkel cell]] was first discovered by Freidrich Sigmund Merkel and also mentioned by Cyril Toker, in 1972.Merkel cell polyomavirus, the pathogen responsible for Merkel cell cancer, was first discovered in 2008.<br />
==Classification==<br />
[[Merkel cell carcinoma]] is classified into 3 subgroups: Trabecular, intermediate, and small cell.<br />
<br />
==Pathophysiology==<br />
It is understood that [[merkel cell cancer]] is the result caused by either [[merkel cell]] [[polyomavirus]], [[ultraviolet]] (UV), [[radiation exposure]] and [[immunosuppression]].<br />
<br />
==Causes==<br />
Common causes of [[merkel cell carcinoma]] include [[merkel cell]] [[polyomavirus]], age, skin tone, exposure to [[sunlight]] and history of [[immunosuppression]].<br />
==Differential Diagnosis==<br />
[[Merkel cell cancer]] must be differentiated from other skin lesions, such as [[basal cell carcinoma]], [[squamous cell carcinoma]], [[malignant melanoma]], [[lymphoma]], vascular tumors, and other benign skin tumors.<br />
==Epidemiology and Demographics==<br />
The [[incidence]] of [[merkel cell carcinoma]] ranges from 0.15 to 0.44 per 100,000 individuals. The median age at diagnosis is approximately 65 years. [[Merkel cell carcinoma]] is more common among males and individuals of Caucasian race.<br />
==Risk Factors==<br />
Risk factors for the development of [[merkel cell cancer]] include old age, male gender, caucasian race, chronic exposure to [[sunlight]], [[immunodeficiency]], and personal history of [[cancer]].<br />
==Screening==<br />
According to the U.S. Preventive Service Task Force (USPSTF), there is insufficient evidence to recommend routine screening for [[skin cancers]], including [[merkel cell cancer]].<br />
<br />
==Natural History, Complications and Prognosis==<br />
[[Merkel cell cancer]] is an aggressive [[cutaneous]] cancer that grows very rapidly. [[Merkel cell cancer]] usually [[Metastasis|metastasizes]] first to regional [[Lymph node|lymph nodes]]. [[Merkel cell cancer]] is a highly aggressive tumor with a [[mortality]] rate that approaches 30% to 40% within 3 years of diagnosis.<br />
<br />
==Diagnosis==<br />
===Staging===<br />
The staging of [[merkel cell cancer]] is based on the [[TNM staging system]].<br />
===History and Symptoms===<br />
Patients with [[merkel cell carcinoma]] usually present with a rapid growing, painless, small [[mass]] that is typically located on sun exposed area of the body.<br />
===Physical Examination===<br />
Physical exam findings of [[merkel cell cancer]] include red/violaceous skin [[mass]] that appear in [[Sun exposure|sun]] exposed areas.<br />
===Laboratory Findings===<br />
Laboratory findings consistent with the diagnosis of [[merkel cell cancer]] include [[immunohistochemistry]], [[Cytogenetics|cytogenetic]] and [[molecular]] analysis, and [[Lymph node biopsy|lymph node biopsy.]] .<br />
===CT===<br />
[[Computed tomography|CT scan]] is useful in detecting [[metastasis]] to organs and regional lymph nodes in [[merkel cell carcinoma]].<br />
===Other Imaging Findings===<br />
[[Positron emission tomography]] ([[Positron emission tomography|PET]]) imaging may be used for the staging of [[merkel cell cancer]].<br />
===Other Diagnostic Studies===<br />
Other diagnostic studies for [[merkel cell cancer]] include [[skin biopsy]], which demonstrates positive [[Keratin 20|cytokeratin-20]] , and [[electron microscopy]], which demonstrates [[granules]], and [[cytoplasmic]] extensions.<br />
==Treatment==<br />
===Medical Therapy===<br />
The predominant therapy for [[merkel cell cancer]]<nowiki/>r is surgical resection. Adjunctive chemoradiation and adjuvant [[immunotherapy]] may also be required in more advanced disease.<br />
===Surgery===<br />
The majority of cases of Merkel cell cancer are treated with [[Cancer#Surgery|surgery]].<br />
<br />
===Primary Prevention===<br />
[[Primary prevention]] of [[merkel cell cancer]] includes avoidance of excessive [[sun exposure]] and use of [[sunscreen]].<br />
===Secondary Prevention===<br />
There are no established measures for the [[secondary prevention]] of [[merkel cell cancer]].<br />
==References==<br />
{{reflist|2}}<br />
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[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
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Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_secondary_prevention&diff=1544321
Merkel cell cancer secondary prevention
2019-01-31T19:24:03Z
<p>Sargun Walia: /* Overview */</p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}} {{AAM}}<br />
==Overview==<br />
There are no established measures for the [[secondary prevention]] of merkel cell cancer.<br />
<br />
==Secondary Prevention==<br />
There are no established measures for the [[secondary prevention]] of merkel cell cancer.<br />
<br />
==References==<br />
{{Reflist|2}}<br />
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[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
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Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_primary_prevention&diff=1544320
Merkel cell cancer primary prevention
2019-01-31T19:23:17Z
<p>Sargun Walia: /* Overview */</p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}} {{AAM}}<br />
==Overview==<br />
[[Primary prevention]] of merkel cell cancer includes avoidance of excessive [[sun exposure]] and use of [[sunscreen]].<br />
<br />
==Primary Prevention==<br />
Effective measures for the [[primary prevention]] of merkel cell cancer include:<br />
* Avoiding excessive [[sun exposure]]<br />
* Use of [[sunscreen]]<br />
<br />
<br />
<br />
==References==<br />
<br />
{{Reflist|2}}<br />
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[[Category:Needs content]]<br />
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Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_surgery&diff=1544318
Merkel cell cancer surgery
2019-01-31T19:22:16Z
<p>Sargun Walia: /* Overview */</p>
<hr />
<div>{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}}<br />
==Overview==<br />
The predominant therapy for merkel cell cancer is surgical resection.<br />
<br />
==Surgery==<br />
*The initial standard approach for patients with merkel cell cancer is '''wide excision'''. <br />
*According to:<ref name="pmid26257075">{{cite journal |vauthors=Lebbe C, Becker JC, Grob JJ, Malvehy J, Del Marmol V, Pehamberger H, Peris K, Saiag P, Middleton MR, Bastholt L, Testori A, Stratigos A, Garbe C |title=Diagnosis and treatment of Merkel Cell Carcinoma. European consensus-based interdisciplinary guideline |journal=Eur. J. Cancer |volume=51 |issue=16 |pages=2396–403 |date=November 2015 |pmid=26257075 |doi=10.1016/j.ejca.2015.06.131 |url=}}</ref><br />
**European Dermatology Forum (EDF) <br />
**European Association of Dermato-Oncology (EADO) <br />
**European Organization of Research and Treatment of Cancer (EORTC) the primary tumour should be excised a margin of at least 1 to 2 cm of healthy tissue surrounding it. <br />
*Overall survival rate in patients with merkel cell cancer increases dramatically by achieving negative margins during excision of the tumour.<ref name="pmid11231196">{{cite journal |vauthors=Tai PT, Yu E, Tonita J, Gilchrist J |title=Merkel cell carcinoma of the skin |journal=J Cutan Med Surg |volume=4 |issue=4 |pages=186–95 |date=October 2000 |pmid=11231196 |doi=10.1177/120347540000400403 |url=}}</ref> <br />
*Regional [[Lymphatic system#Secondary lymphoid organs|lymph nodes]] are often resection because they may contain [[cancer cells]].<br />
<br />
=== Mohs micrographic surgery ===<br />
* [[Mohs micrographic surgery]] is indicated when considered cosmetic outcomes especially on sensitive body parts like face.<ref name="pmid9357504">{{cite journal |vauthors=O'Connor WJ, Roenigk RK, Brodland DG |title=Merkel cell carcinoma. Comparison of Mohs micrographic surgery and wide excision in eighty-six patients |journal=Dermatol Surg |volume=23 |issue=10 |pages=929–33 |date=October 1997 |pmid=9357504 |doi= |url=}}</ref><ref name="pmid12451374">{{cite journal |vauthors=Boyer JD, Zitelli JA, Brodland DG, D'Angelo G |title=Local control of primary Merkel cell carcinoma: review of 45 cases treated with Mohs micrographic surgery with and without adjuvant radiation |journal=J. Am. Acad. Dermatol. |volume=47 |issue=6 |pages=885–92 |date=December 2002 |pmid=12451374 |doi=10.1067/mjd.2002.125083 |url=}}</ref> <br />
<br />
==References==<br />
{{reflist|2}}<br />
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[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
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Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_medical_therapy&diff=1544316
Merkel cell cancer medical therapy
2019-01-31T19:20:48Z
<p>Sargun Walia: </p>
<hr />
<div>{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}}<br />
<br />
==Overview==<br />
The predominant therapy for merkel cell cancer is surgical resection. Adjunctive chemoradiation and adjuvant [[immunotherapy]] may also be required in more advanced disease.<br />
<br />
<br />
==Medical Therapy==<br />
*Merkel cell cancer that has metastasized may respond, at least partially, to treatment with [[chemotherapy]] and/or [[radiation]]. <br />
===Radiation===<br />
* Merkel cell cancer is radiosensitive [[carcinoma]].<br />
<br />
* [[Radiation]] is an alternative treatment and used can be alone in patients with merkel cell cancer who are not suitable for surgery.<ref name="pmid21641081">{{cite journal |vauthors=Pape E, Rezvoy N, Penel N, Salleron J, Martinot V, Guerreschi P, Dziwniel V, Darras S, Mirabel X, Mortier L |title=Radiotherapy alone for Merkel cell carcinoma: a comparative and retrospective study of 25 patients |journal=J. Am. Acad. Dermatol. |volume=65 |issue=5 |pages=983–90 |date=November 2011 |pmid=21641081 |doi=10.1016/j.jaad.2010.07.043 |url=}}</ref><br />
* [[Radiotherapy]] has a curative rate of 75 to 85 percent.<ref name="pmid25001091">{{cite journal |vauthors=Harrington C, Kwan W |title=Outcomes of Merkel cell carcinoma treated with radiotherapy without radical surgical excision |journal=Ann. Surg. Oncol. |volume=21 |issue=11 |pages=3401–5 |date=October 2014 |pmid=25001091 |doi=10.1245/s10434-014-3757-8 |url=}}</ref><br />
* Systemic [[relapse]] after [[radiotherapy]] is one f the cause of death in patients with merkel cell cancer.<ref name="pmid19939581">{{cite journal |vauthors=Veness M, Foote M, Gebski V, Poulsen M |title=The role of radiotherapy alone in patients with merkel cell carcinoma: reporting the Australian experience of 43 patients |journal=Int. J. Radiat. Oncol. Biol. Phys. |volume=78 |issue=3 |pages=703–9 |date=November 2010 |pmid=19939581 |doi=10.1016/j.ijrobp.2009.08.011 |url=}}</ref><br />
<br />
*[[Adjuvant]] [[radiotherapy]] is effective in reducing the rate of recurrence and increasing the 5-year survival of patients with merkel cell cancer.<br />
**Preferred dosage: 60 to 66 Gy<br />
===Chemotherapy or chemoradiotherapy===<br />
* Patients with merkel cell cancer who are having a [[metastatic]] disease may get beneficial results with [[chemotherapy]].<ref name="pmid16125873">{{cite journal |vauthors=Poulsen MG, Rischin D, Porter I, Walpole E, Harvey J, Hamilton C, Keller J, Tripcony L |title=Does chemotherapy improve survival in high-risk stage I and II Merkel cell carcinoma of the skin? |journal=Int. J. Radiat. Oncol. Biol. Phys. |volume=64 |issue=1 |pages=114–9 |date=January 2006 |pmid=16125873 |doi=10.1016/j.ijrobp.2005.04.042 |url=}}</ref><br />
<br />
*[[Chemotherapy]] usually does not cure the disease, but it can be effective in shrinking the [[tumor]] size if the tumor is either too large to be resectable or is located within in critical or difficult regions.<br />
*[[Contraindications]] in using [[chemotherapy]] is [[immunosuppression]] which are of a great concern. <br />
** Preferred regimen (1): [[Carboplatin]] a weekly regimen IV: Target AUC 4.5 on day 1 of weeks 1, 4, 7, and 10.<br />
** Preferred regimen (2): [[Etoposide]] IV concentrations >0.4 mg/mL.<br />
<br />
=== '''Adjuvant immunotherapy''' ===<br />
* Using new medications like [[monoclonal antibodies]] in patients with merkel cell cancer shows promising results especially if the patients have [[metastasis]].<ref name="pmid27592805">{{cite journal |vauthors=Kaufman HL, Russell J, Hamid O, Bhatia S, Terheyden P, D'Angelo SP, Shih KC, Lebbé C, Linette GP, Milella M, Brownell I, Lewis KD, Lorch JH, Chin K, Mahnke L, von Heydebreck A, Cuillerot JM, Nghiem P |title=Avelumab in patients with chemotherapy-refractory metastatic Merkel cell carcinoma: a multicentre, single-group, open-label, phase 2 trial |journal=Lancet Oncol. |volume=17 |issue=10 |pages=1374–1385 |date=October 2016 |pmid=27592805 |pmc=5587154 |doi=10.1016/S1470-2045(16)30364-3 |url=}}</ref><ref name="pmid29478343">{{cite journal |vauthors=Gaiser MR, Bongiorno M, Brownell I |title=PD-L1 inhibition with avelumab for metastatic Merkel cell carcinoma |journal=Expert Rev Clin Pharmacol |volume=11 |issue=4 |pages=345–359 |date=April 2018 |pmid=29478343 |doi=10.1080/17512433.2018.1445966 |url=}}</ref><ref name="pmid294783432">{{cite journal |vauthors=Gaiser MR, Bongiorno M, Brownell I |title=PD-L1 inhibition with avelumab for metastatic Merkel cell carcinoma |journal=Expert Rev Clin Pharmacol |volume=11 |issue=4 |pages=345–359 |date=April 2018 |pmid=29478343 |doi=10.1080/17512433.2018.1445966 |url=}}</ref><ref name="TopalianBhatia2018">{{cite journal|last1=Topalian|first1=Suzanne Louise|last2=Bhatia|first2=Shailender|last3=Kudchadkar|first3=Ragini Reiney|last4=Amin|first4=Asim|last5=Sharfman|first5=William Howard|last6=Lebbe|first6=Celeste|last7=Delord|first7=Jean-Pierre|last8=Shinohara|first8=Michi M|last9=Baxi|first9=Shrujal S.|last10=Chung|first10=Christine H.|last11=Martens|first11=Uwe Marc|last12=Ferris|first12=Robert L.|last13=Stein|first13=Julie E|last14=Soumaoro|first14=Ibrahima|last15=Zwirtes|first15=Ricardo F.|last16=Chen|first16=Tian|last17=Cao|first17=Z. Alexander|last18=Taube|first18=Janis M.|last19=Nghiem|first19=Paul|title=Nivolumab (Nivo) as neoadjuvant therapy in patients with resectable Merkel cell carcinoma (MCC) in CheckMate 358.|journal=Journal of Clinical Oncology|volume=36|issue=15_suppl|year=2018|pages=9505–9505|issn=0732-183X|doi=10.1200/JCO.2018.36.15_suppl.9505}}</ref><ref name="pmid29566749">{{cite journal |vauthors=Chan IS, Bhatia S, Kaufman HL, Lipson EJ |title=Immunotherapy for Merkel cell carcinoma: a turning point in patient care |journal=J Immunother Cancer |volume=6 |issue=1 |pages=23 |date=March 2018 |pmid=29566749 |pmc=5865292 |doi=10.1186/s40425-018-0335-9 |url=}}</ref><ref name="pmid21953511">{{cite journal |vauthors=Bhatia S, Afanasiev O, Nghiem P |title=Immunobiology of Merkel cell carcinoma: implications for immunotherapy of a polyomavirus-associated cancer |journal=Curr Oncol Rep |volume=13 |issue=6 |pages=488–97 |date=December 2011 |pmid=21953511 |pmc=4112947 |doi=10.1007/s11912-011-0197-5 |url=}}</ref><ref name="pmid30073632">{{cite journal |vauthors=Femia D, Prinzi N, Anichini A, Mortarini R, Nichetti F, Corti F, Torchio M, Peverelli G, Pagani F, Maurichi A, Mattavelli I, Milione M, Bedini N, Corti A, Di Bartolomeo M, de Braud F, Pusceddu S |title=Treatment of Advanced Merkel Cell Carcinoma: Current Therapeutic Options and Novel Immunotherapy Approaches |journal=Target Oncol |volume=13 |issue=5 |pages=567–582 |date=October 2018 |pmid=30073632 |doi=10.1007/s11523-018-0585-y |url=}}</ref><br />
** Preferred regimen (1):[[Avelumab]]([[PD-L1]] inhibition ), IV: 800 mg once every 2 weeks until disease progression or unacceptable toxicity.<br />
** Preferred regimen (2):[[Nivolumab]], IV 240 mg on Day 1 and Day 15. <br />
** Preferred regimen (3):[[Pembrolizumab]], IV: 200 mg once every 3 weeks until disease progression, unacceptable toxicity.<br />
<br />
* <br />
<br />
* <br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
<br />
{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
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Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_medical_therapy&diff=1543884
Merkel cell cancer medical therapy
2019-01-31T03:14:38Z
<p>Sargun Walia: </p>
<hr />
<div>{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}}<br />
<br />
==Overview==<br />
The predominant therapy for merkel cell cancer is surgical resection. Adjunctive chemoradiation and adjuvant [[immunotherapy]] may also be required in more advanced disease.<br />
<br />
<br />
==Medical Therapy==<br />
*Merkel cell cancer that has metastasized may respond, at least partially, to treatment with [[chemotherapy]] and/or [[radiation]]. <br />
===Radiation===<br />
* Merkel cell cancer is radiosensitive [[carcinoma]].<br />
<br />
* [[Radiation]] is an alternative treatment and used can be alone in patients with merkel cell cancer who are not suitable for surgery.<ref name="pmid21641081">{{cite journal |vauthors=Pape E, Rezvoy N, Penel N, Salleron J, Martinot V, Guerreschi P, Dziwniel V, Darras S, Mirabel X, Mortier L |title=Radiotherapy alone for Merkel cell carcinoma: a comparative and retrospective study of 25 patients |journal=J. Am. Acad. Dermatol. |volume=65 |issue=5 |pages=983–90 |date=November 2011 |pmid=21641081 |doi=10.1016/j.jaad.2010.07.043 |url=}}</ref><br />
* [[Radiotherapy]] has a curative rate of 75 to 85 percent.<ref name="pmid25001091">{{cite journal |vauthors=Harrington C, Kwan W |title=Outcomes of Merkel cell carcinoma treated with radiotherapy without radical surgical excision |journal=Ann. Surg. Oncol. |volume=21 |issue=11 |pages=3401–5 |date=October 2014 |pmid=25001091 |doi=10.1245/s10434-014-3757-8 |url=}}</ref><br />
* Systemic [[relapse]] after [[radiotherapy]] is one f the cause of death in patients with merkel cell cancer.<ref name="pmid19939581">{{cite journal |vauthors=Veness M, Foote M, Gebski V, Poulsen M |title=The role of radiotherapy alone in patients with merkel cell carcinoma: reporting the Australian experience of 43 patients |journal=Int. J. Radiat. Oncol. Biol. Phys. |volume=78 |issue=3 |pages=703–9 |date=November 2010 |pmid=19939581 |doi=10.1016/j.ijrobp.2009.08.011 |url=}}</ref><br />
<br />
*[[Adjuvant]] [[radiotherapy]] is effective in reducing the rate of recurrence and increasing the 5-year survival of patients with merkel cell cancer.<br />
**Preferred dosage: 60 to 66 Gy<br />
===Chemotherapy or chemoradiotherapy===<br />
* Patients with merkel cell cancer who are having a [[metastatic]] disease may get beneficial results with [[chemotherapy]].<ref name="pmid16125873">{{cite journal |vauthors=Poulsen MG, Rischin D, Porter I, Walpole E, Harvey J, Hamilton C, Keller J, Tripcony L |title=Does chemotherapy improve survival in high-risk stage I and II Merkel cell carcinoma of the skin? |journal=Int. J. Radiat. Oncol. Biol. Phys. |volume=64 |issue=1 |pages=114–9 |date=January 2006 |pmid=16125873 |doi=10.1016/j.ijrobp.2005.04.042 |url=}}</ref><br />
<br />
*[[Chemotherapy]] usually does not cure the disease, but it can be effective in shrinking the [[tumor]] size if the tumor is either too large to be resectable or is located within in critical or difficult regions.<br />
*[[Contraindications]] in using [[chemotherapy]] is [[immunosuppression]] which are of a great concern. <br />
** Preferred regimen (1): [[Carboplatin]] a weekly regimen IV: Target AUC 4.5 on day 1 of weeks 1, 4, 7, and 10.<br />
** Preferred regimen (2): [[Etoposide]] IV concentrations >0.4 mg/mL.<br />
<br />
=== '''Adjuvant immunotherapy''' ===<br />
* Using new medications like [[monoclonal antibodies]] in patients with [[merkel cell cancer]] shows promising results especially if the patients have [[metastasis]].<ref name="pmid27592805">{{cite journal |vauthors=Kaufman HL, Russell J, Hamid O, Bhatia S, Terheyden P, D'Angelo SP, Shih KC, Lebbé C, Linette GP, Milella M, Brownell I, Lewis KD, Lorch JH, Chin K, Mahnke L, von Heydebreck A, Cuillerot JM, Nghiem P |title=Avelumab in patients with chemotherapy-refractory metastatic Merkel cell carcinoma: a multicentre, single-group, open-label, phase 2 trial |journal=Lancet Oncol. |volume=17 |issue=10 |pages=1374–1385 |date=October 2016 |pmid=27592805 |pmc=5587154 |doi=10.1016/S1470-2045(16)30364-3 |url=}}</ref><ref name="pmid29478343">{{cite journal |vauthors=Gaiser MR, Bongiorno M, Brownell I |title=PD-L1 inhibition with avelumab for metastatic Merkel cell carcinoma |journal=Expert Rev Clin Pharmacol |volume=11 |issue=4 |pages=345–359 |date=April 2018 |pmid=29478343 |doi=10.1080/17512433.2018.1445966 |url=}}</ref><ref name="pmid294783432">{{cite journal |vauthors=Gaiser MR, Bongiorno M, Brownell I |title=PD-L1 inhibition with avelumab for metastatic Merkel cell carcinoma |journal=Expert Rev Clin Pharmacol |volume=11 |issue=4 |pages=345–359 |date=April 2018 |pmid=29478343 |doi=10.1080/17512433.2018.1445966 |url=}}</ref><ref name="TopalianBhatia2018">{{cite journal|last1=Topalian|first1=Suzanne Louise|last2=Bhatia|first2=Shailender|last3=Kudchadkar|first3=Ragini Reiney|last4=Amin|first4=Asim|last5=Sharfman|first5=William Howard|last6=Lebbe|first6=Celeste|last7=Delord|first7=Jean-Pierre|last8=Shinohara|first8=Michi M|last9=Baxi|first9=Shrujal S.|last10=Chung|first10=Christine H.|last11=Martens|first11=Uwe Marc|last12=Ferris|first12=Robert L.|last13=Stein|first13=Julie E|last14=Soumaoro|first14=Ibrahima|last15=Zwirtes|first15=Ricardo F.|last16=Chen|first16=Tian|last17=Cao|first17=Z. Alexander|last18=Taube|first18=Janis M.|last19=Nghiem|first19=Paul|title=Nivolumab (Nivo) as neoadjuvant therapy in patients with resectable Merkel cell carcinoma (MCC) in CheckMate 358.|journal=Journal of Clinical Oncology|volume=36|issue=15_suppl|year=2018|pages=9505–9505|issn=0732-183X|doi=10.1200/JCO.2018.36.15_suppl.9505}}</ref><ref name="pmid29566749">{{cite journal |vauthors=Chan IS, Bhatia S, Kaufman HL, Lipson EJ |title=Immunotherapy for Merkel cell carcinoma: a turning point in patient care |journal=J Immunother Cancer |volume=6 |issue=1 |pages=23 |date=March 2018 |pmid=29566749 |pmc=5865292 |doi=10.1186/s40425-018-0335-9 |url=}}</ref><ref name="pmid21953511">{{cite journal |vauthors=Bhatia S, Afanasiev O, Nghiem P |title=Immunobiology of Merkel cell carcinoma: implications for immunotherapy of a polyomavirus-associated cancer |journal=Curr Oncol Rep |volume=13 |issue=6 |pages=488–97 |date=December 2011 |pmid=21953511 |pmc=4112947 |doi=10.1007/s11912-011-0197-5 |url=}}</ref><ref name="pmid30073632">{{cite journal |vauthors=Femia D, Prinzi N, Anichini A, Mortarini R, Nichetti F, Corti F, Torchio M, Peverelli G, Pagani F, Maurichi A, Mattavelli I, Milione M, Bedini N, Corti A, Di Bartolomeo M, de Braud F, Pusceddu S |title=Treatment of Advanced Merkel Cell Carcinoma: Current Therapeutic Options and Novel Immunotherapy Approaches |journal=Target Oncol |volume=13 |issue=5 |pages=567–582 |date=October 2018 |pmid=30073632 |doi=10.1007/s11523-018-0585-y |url=}}</ref><br />
** Preferred regimen (1):[[Avelumab]]([[PD-L1]] inhibition ), IV: 800 mg once every 2 weeks until disease progression or unacceptable toxicity.<br />
** Preferred regimen (2):[[Nivolumab]], IV 240 mg on Day 1 and Day 15. <br />
** Preferred regimen (3):[[Pembrolizumab]], IV: 200 mg once every 3 weeks until disease progression, unacceptable toxicity.<br />
<br />
* <br />
<br />
* <br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
<br />
{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
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[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
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Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_other_diagnostic_studies&diff=1543883
Merkel cell cancer other diagnostic studies
2019-01-31T03:12:31Z
<p>Sargun Walia: /* Overview */</p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}}<br />
==Overview==<br />
Other diagnostic studies for merkel cell cancer include [[skin biopsy]], which demonstrates positive [[Keratin 20|cytokeratin-20]] , and [[electron microscopy]], which demonstrates [[granules]], and [[cytoplasmic]] extensions.<br />
<br />
==Other Diagnostic Studies==<br />
<br />
=== Skin biopsy ===<br />
[[Skin biopsy]] may be helpful in the diagnosis of merkel cell cancer. <br />
* Findings diagnostic of merkel cell cancer include:<br />
<br />
* The [[histopathological]] diagnosis of merkel cell cancer is difficult, and the majority of cases with merkel cell cancer are often misdiagnosed.<br />
* On skin biopsy, merkel cell cancer is characterized by positive staining on [[Keratin 20|cytokeratin-20]] [[immunohistochemical]] assay.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
<br />
=== Electron microscopy ===<br />
* On [[electron microscopy]], merkel cell cancer is characterized by the presence of: <br />
** Neurosecretory [[granules]] within [[cytoplasmic]] extensions.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
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[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_other_imaging_findings&diff=1543882
Merkel cell cancer other imaging findings
2019-01-31T03:09:33Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}}<br />
<br />
==Overview==<br />
[[Positron emission tomography]] ([[Positron emission tomography|PET]]) imaging may be used for the staging of merkel cell cancer.<br />
* Other Imaging Findings<br />
<br />
{| align="right"<br />
|<br />
[[File:FDG PET scan in merkel cell cancer.gif|alt=FDG PET scan in merkel cell cancer|center|thumb|'''FDG PET scan''' [https://radiopaedia.org/cases/33259 Source: Case courtesy of Dr Anna Margherita Maffione, Radiopedia, rID: 33259]]]<br />
|}<br />
=== 2-fluoro-D-2-deoxyglucose (FDG) Positron Emission Tomography ===<br />
*[[Positron emission tomography]] ([[Positron emission tomography|PET]]) may be helpful in the diagnosis of merkel cell cancer. <br />
*[[Positron emission tomography|PET]] helps with the following:<ref name="pmid">{{cite journal |vauthors=Gollub MJ, Gruen DR, Dershaw DD |title=Merkel cell carcinoma: CT findings in 12 patients |journal=AJR Am J Roentgenol |volume=167 |issue=3 |pages=617–20 |date=September 1996 |pmid= |doi=10.2214/ajr.167.3.8751663 |url=}}</ref><ref name="pmid16437401">{{cite journal |vauthors=Golan H, Volkov O, Linchinsky O, Melloul M |title=FDG-PET imaging in Merkel cell carcinoma - value of head-to-toe scan |journal=Nucl Med Rev Cent East Eur |volume=8 |issue=2 |pages=135–6 |date=2005 |pmid=16437401 |doi= |url=}}</ref><ref name="Papavasiliou2013">{{cite journal|last1=Papavasiliou|first1=Pavlos|title=Utility of PET/CT in the staging and treatment of patients with Merkel Cell Carcinoma and Melanoma|journal=Journal of Nuclear Medicine & Radiation Therapy|volume=04|issue=04|year=2013|issn=21559619|doi=10.4172/2155-9619.S5-001}}</ref><br />
**[[Cancer staging|Staging]]<br />
**Follow up<br />
**[[Lymph node|Lymph nodes]] involvement<br />
**[[Metastasis]]<br />
**Responses to [[therapy]]<br />
**[[Residual]] disease<br />
<br />
=== Ultrasound ===<br />
* [[Ultrasound]] may be helpful in the diagnosis of merkel cell cancer.<br />
* [[Ultrasound]] helps with the following:<ref name="pmid30085832">{{cite journal |vauthors=Schmerling RA, Casas JG, Cinat G, Ospina FEG, Kassuga LEBP, Tlahuel JLM, Mazzuoccolo LD |title=Burden of Disease, Early Diagnosis, and Treatment of Merkel Cell Carcinoma in Latin America |journal=J Glob Oncol |volume= |issue=4 |pages=1–11 |date=July 2018 |pmid=30085832 |doi=10.1200/JGO.18.00041 |url=}}</ref><ref name="EnzenhoferUbl2013">{{cite journal|last1=Enzenhofer|first1=Elisabeth|last2=Ubl|first2=Philipp|last3=Czerny|first3=Christian|last4=Erovic|first4=Boban M.|title=Imaging in Patients with Merkel Cell Carcinoma|journal=Journal of Skin Cancer|volume=2013|year=2013|pages=1–6|issn=2090-2905|doi=10.1155/2013/973123}}</ref><br />
** To assess [[lymphatic drainage]]<br />
<br><br />
<br />
==References==<br />
<br />
{{Reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_other_imaging_findings&diff=1543880
Merkel cell cancer other imaging findings
2019-01-31T03:08:14Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}}<br />
<br />
==Overview==<br />
[[Positron emission tomography]] ([[Positron emission tomography|PET]]) imaging may be used for the staging of [[merkel cell cancer]].<br />
* Other Imaging Findings<br />
<br />
{|align="right"<br />
|<br />
[[File:FDG PET scan in merkel cell cancer.gif|alt=FDG PET scan in merkel cell cancer|center|thumb|'''FDG PET scan''' [https://radiopaedia.org/cases/33259 Source: Case courtesy of Dr Anna Margherita Maffione, Radiopedia, rID: 33259]]]<br />
|}<br />
=== 2-fluoro-D-2-deoxyglucose (FDG) Positron emission tomography ===<br />
*[[Positron emission tomography]] ([[Positron emission tomography|PET]]) may be helpful in the diagnosis of merkel cell cancer. <br />
*[[Positron emission tomography|PET]] helps with the following:<ref name="pmid">{{cite journal |vauthors=Gollub MJ, Gruen DR, Dershaw DD |title=Merkel cell carcinoma: CT findings in 12 patients |journal=AJR Am J Roentgenol |volume=167 |issue=3 |pages=617–20 |date=September 1996 |pmid= |doi=10.2214/ajr.167.3.8751663 |url=}}</ref><ref name="pmid16437401">{{cite journal |vauthors=Golan H, Volkov O, Linchinsky O, Melloul M |title=FDG-PET imaging in Merkel cell carcinoma - value of head-to-toe scan |journal=Nucl Med Rev Cent East Eur |volume=8 |issue=2 |pages=135–6 |date=2005 |pmid=16437401 |doi= |url=}}</ref><ref name="Papavasiliou2013">{{cite journal|last1=Papavasiliou|first1=Pavlos|title=Utility of PET/CT in the staging and treatment of patients with Merkel Cell Carcinoma and Melanoma|journal=Journal of Nuclear Medicine & Radiation Therapy|volume=04|issue=04|year=2013|issn=21559619|doi=10.4172/2155-9619.S5-001}}</ref><br />
**[[Cancer staging|Staging]]<br />
**Follow up<br />
**[[Lymph node|Lymph nodes]] involvement<br />
**[[Metastasis]]<br />
**Responses to [[therapy]]<br />
**[[Residual]] disease<br />
<br />
=== Ultrasound ===<br />
* [[Ultrasound]] may be helpful in the diagnosis of merkel cell cancer.<br />
* [[Ultrasound]] helps with the following:<ref name="pmid30085832">{{cite journal |vauthors=Schmerling RA, Casas JG, Cinat G, Ospina FEG, Kassuga LEBP, Tlahuel JLM, Mazzuoccolo LD |title=Burden of Disease, Early Diagnosis, and Treatment of Merkel Cell Carcinoma in Latin America |journal=J Glob Oncol |volume= |issue=4 |pages=1–11 |date=July 2018 |pmid=30085832 |doi=10.1200/JGO.18.00041 |url=}}</ref><ref name="EnzenhoferUbl2013">{{cite journal|last1=Enzenhofer|first1=Elisabeth|last2=Ubl|first2=Philipp|last3=Czerny|first3=Christian|last4=Erovic|first4=Boban M.|title=Imaging in Patients with Merkel Cell Carcinoma|journal=Journal of Skin Cancer|volume=2013|year=2013|pages=1–6|issn=2090-2905|doi=10.1155/2013/973123}}</ref><br />
** To assess [[lymphatic drainage]]<br />
<br><br />
<br />
==References==<br />
<br />
{{Reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_other_imaging_findings&diff=1543879
Merkel cell cancer other imaging findings
2019-01-31T03:03:08Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}}<br />
<br />
==Overview==<br />
[[Positron emission tomography]] ([[Positron emission tomography|PET]]) imaging may be used for the staging of [[merkel cell cancer]].<br />
* Other Imaging Findings<br />
<br />
=== 2-fluoro-D-2-deoxyglucose (FDG) Positron emission tomography ===<br />
*[[Positron emission tomography]] ([[Positron emission tomography|PET]]) may be helpful in the diagnosis of merkel cell cancer. <br />
*[[Positron emission tomography|PET]] helps with the following:<ref name="pmid">{{cite journal |vauthors=Gollub MJ, Gruen DR, Dershaw DD |title=Merkel cell carcinoma: CT findings in 12 patients |journal=AJR Am J Roentgenol |volume=167 |issue=3 |pages=617–20 |date=September 1996 |pmid= |doi=10.2214/ajr.167.3.8751663 |url=}}</ref><ref name="pmid16437401">{{cite journal |vauthors=Golan H, Volkov O, Linchinsky O, Melloul M |title=FDG-PET imaging in Merkel cell carcinoma - value of head-to-toe scan |journal=Nucl Med Rev Cent East Eur |volume=8 |issue=2 |pages=135–6 |date=2005 |pmid=16437401 |doi= |url=}}</ref><ref name="Papavasiliou2013">{{cite journal|last1=Papavasiliou|first1=Pavlos|title=Utility of PET/CT in the staging and treatment of patients with Merkel Cell Carcinoma and Melanoma|journal=Journal of Nuclear Medicine & Radiation Therapy|volume=04|issue=04|year=2013|issn=21559619|doi=10.4172/2155-9619.S5-001}}</ref><br />
**[[Cancer staging|Staging]]<br />
**Follow up<br />
**[[Lymph node|Lymph nodes]] involvement<br />
**[[Metastasis]]<br />
**Responses to [[therapy]]<br />
**[[Residual]] disease<br />
[[File:FDG PET scan in merkel cell cancer.gif|alt=FDG PET scan in merkel cell cancer|center|thumb|'''FDG PET scan''' Case courtesy of Dr Anna Margherita Maffione, <a href="https://radiopaedia.org/">Radiopaedia.org</a>. From the case <a href="https://radiopaedia.org/cases/33259">rID: 33259</a>]]<br />
<br />
=== Ultrasound ===<br />
* [[Ultrasound]] may be helpful in the diagnosis of merkel cell cancer.<br />
* [[Ultrasound]] helps with the following:<ref name="pmid30085832">{{cite journal |vauthors=Schmerling RA, Casas JG, Cinat G, Ospina FEG, Kassuga LEBP, Tlahuel JLM, Mazzuoccolo LD |title=Burden of Disease, Early Diagnosis, and Treatment of Merkel Cell Carcinoma in Latin America |journal=J Glob Oncol |volume= |issue=4 |pages=1–11 |date=July 2018 |pmid=30085832 |doi=10.1200/JGO.18.00041 |url=}}</ref><ref name="EnzenhoferUbl2013">{{cite journal|last1=Enzenhofer|first1=Elisabeth|last2=Ubl|first2=Philipp|last3=Czerny|first3=Christian|last4=Erovic|first4=Boban M.|title=Imaging in Patients with Merkel Cell Carcinoma|journal=Journal of Skin Cancer|volume=2013|year=2013|pages=1–6|issn=2090-2905|doi=10.1155/2013/973123}}</ref><br />
** To assess [[lymphatic drainage]]<br />
<br />
*<br />
<br />
==References==<br />
<br />
{{Reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_CT&diff=1543878
Merkel cell cancer CT
2019-01-31T03:01:22Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} {{AE}} {{VKG}}<br />
==Overview==<br />
[[Computed tomography|CT scan]] is useful in detecting [[metastasis]] to organs and regional lymph nodes in merkel cell carcinoma.<br />
<br />
==Key CT findings in Merkel cell cancer==<br />
*[[Computed tomography|CT scan]] of the [[chest]] and [[abdomen]] may use to detect merkel cell carcinoma [[metastasis]].<ref name="PeloschekNovotny2010">{{cite journal|last1=Peloschek|first1=Philipp|last2=Novotny|first2=Clemens|last3=Mueller-Mang|first3=Christina|last4=Weber|first4=Michael|last5=Sailer|first5=Johannes|last6=Dawid|first6=Markus|last7=Czerny|first7=Christian|last8=Dudczak|first8=Robert|last9=Kletter|first9=Kurt|last10=Becherer|first10=Alexander|title=Diagnostic imaging in Merkel cell carcinoma: Lessons to learn from 16 cases with correlation of sonography, CT, MRI and PET|journal=European Journal of Radiology|volume=73|issue=2|year=2010|pages=317–323|issn=0720048X|doi=10.1016/j.ejrad.2008.10.032}}</ref><br />
*[[Computed tomography|CT scan]] of the [[abdomen]] may shows the following:<ref name="NguyenMcCullough2002">{{cite journal|last1=Nguyen|first1=Ba D.|last2=McCullough|first2=Ann E.|title=Imaging of Merkel Cell Carcinoma|journal=RadioGraphics|volume=22|issue=2|year=2002|pages=367–376|issn=0271-5333|doi=10.1148/radiographics.22.2.g02mr14367}}</ref><ref name="GollubGruen1996">{{cite journal|last1=Gollub|first1=M J|last2=Gruen|first2=D R|last3=Dershaw|first3=D D|title=Merkel cell carcinoma: CT findings in 12 patients.|journal=American Journal of Roentgenology|volume=167|issue=3|year=1996|pages=617–620|issn=0361-803X|doi=10.2214/ajr.167.3.8751663}}</ref><ref name="ColganTarantola2012">{{cite journal|last1=Colgan|first1=Michael B.|last2=Tarantola|first2=Tina I.|last3=Weaver|first3=Amy L.|last4=Wiseman|first4=Gregory A.|last5=Roenigk|first5=Randall K.|last6=Brewer|first6=Jerry D.|last7=Otley|first7=Clark C.|title=The predictive value of imaging studies in evaluating regional lymph node involvement in Merkel cell carcinoma|journal=Journal of the American Academy of Dermatology|volume=67|issue=6|year=2012|pages=1250–1256|issn=01909622|doi=10.1016/j.jaad.2012.03.018}}</ref><ref name="LuFleming2012">{{cite journal|last1=Lu|first1=Yang|last2=Fleming|first2=Stephen E.|last3=Fields|first3=Ryan C.|last4=Coit|first4=Daniel G.|last5=Carrasquillo|first5=Jorge A.|title=Comparison of 18F-FDG PET/CT and 111In Pentetreotide Scan for Detection of Merkel Cell Carcinoma|journal=Clinical Nuclear Medicine|volume=37|issue=8|year=2012|pages=759–762|issn=0363-9762|doi=10.1097/RLU.0b013e31825ae8e7}}</ref> <br />
**[[Retroperitoneal]] and peripancreatic [[adenopathy]]<br />
**Involvement of the lower left [[anterior]] [[chest wall]] <br />
**Involvement of the [[Rib|ribs]]<br />
**Involvement of the [[gut]]<br />
**<br />
*[[Computed tomography|CT scan]] of the [[head]] and [[neck]] may be also used to find merkel cell carcinoma that has spread to regional [[lymph nodes]].<br />
*[[Computed tomography|CT scan]] of the [[head]] may demonstrates a [[soft-tissue]] [[Nodule (medicine)|nodule]] in merkel cell carcinoma. <br />
*[[Computed tomography|CT scan]] in patients with merkel cell carcinoma helps with [[Cancer staging|staging]] of the disease.<ref name="pmid8751663">{{cite journal |vauthors=Gollub MJ, Gruen DR, Dershaw DD |title=Merkel cell carcinoma: CT findings in 12 patients |journal=AJR Am J Roentgenol |volume=167 |issue=3 |pages=617–20 |date=September 1996 |pmid=8751663 |doi=10.2214/ajr.167.3.8751663 |url=}}</ref> <br />
[[File:Metastatic-merkel-cell-carcinoma.jpg|center|thumb|Case courtesy of Dr Anna Margherita Maffione, <a href="https://radiopaedia.org/">Radiopaedia.org</a>. From the case <a href="https://radiopaedia.org/cases/33259">rID: 33259</a>]]<br />
<br />
==References==<br />
<br />
{{Reflist|2}}<br />
<br />
[[Category:Needs content]]<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_laboratory_tests&diff=1543877
Merkel cell cancer laboratory tests
2019-01-31T02:58:59Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}}<br />
<br />
==Overview==<br />
Laboratory findings consistent with the diagnosis of merkel cell cancer include [[immunohistochemistry]], [[Cytogenetics|cytogenetic]] and [[molecular]] analysis, and [[Lymph node biopsy|lymph node biopsy.]] .<br />
==Laboratory findings==<br />
Laboratory findings consistent with the diagnosis of merkel cell cancer include:<br />
<br />
'''Lymph Node Biopsy'''<br />
* [[Sentinel lymph node]] [[biopsy]] is the [[Gold standard (test)|gold standard]] test for the diagnosis of merkel cell cancer.<ref name="pmid26480031">{{cite journal |vauthors=Gunaratne DA, Howle JR, Veness MJ |title=Sentinel lymph node biopsy in Merkel cell carcinoma: a 15-year institutional experience and statistical analysis of 721 reported cases |journal=Br. J. Dermatol. |volume=174 |issue=2 |pages=273–81 |date=February 2016 |pmid=26480031 |doi=10.1111/bjd.14240 |url=}}</ref><ref name="pmid29549898">{{cite journal |vauthors=Sims JR, Grotz TE, Pockaj BA, Joseph RW, Foote RL, Otley CC, Weaver AL, Jakub JW, Price DL |title=Sentinel lymph node biopsy in Merkel cell carcinoma: The Mayo Clinic experience of 150 patients |journal=Surg Oncol |volume=27 |issue=1 |pages=11–17 |date=March 2018 |pmid=29549898 |doi=10.1016/j.suronc.2017.10.005 |url=}}</ref><ref name="pmid7633811">{{cite journal |vauthors=Haag ML, Glass LF, Fenske NA |title=Merkel cell carcinoma. Diagnosis and treatment |journal=Dermatol Surg |volume=21 |issue=8 |pages=669–83 |date=August 1995 |pmid=7633811 |doi= |url=}}</ref><ref name="pmid11357530">{{cite journal |vauthors=Helmbold P, Schröter S, Holzhausen HJ, Hartschuh W, Marsch WC |title=[Merkel cell carcinoma: a diagnostic and therapeutic challenge] |language=German |journal=Chirurg |volume=72 |issue=4 |pages=396–401 |date=April 2001 |pmid=11357530 |doi= |url=}}</ref><ref name="pmid18280333">{{cite journal |vauthors=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF, Nghiem P |title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features |journal=J. Am. Acad. Dermatol. |volume=58 |issue=3 |pages=375–81 |date=March 2008 |pmid=18280333 |pmc=2335370 |doi=10.1016/j.jaad.2007.11.020 |url=}}</ref><br />
* [[Sentinel lymph node]] [[biopsy]] plays a crucial role in:<br />
** Accurate [[Cancer staging|staging]] <br />
** Appropriate management according to the [[Cancer staging|staging]]<br />
'''Immunohistochemistry''' <br />
* [[Epithelial]] markers play an important role in the diagnosis of merkel cell cancer which include:<ref name="pmid18496143">{{cite journal |vauthors=Weinbreck N, Marie B, Bressenot A, Montagne K, Joud A, Baumann C, Klein O, Vignaud JM |title=Immunohistochemical markers to distinguish between hemangioblastoma and metastatic clear-cell renal cell carcinoma in the brain: utility of aquaporin1 combined with cytokeratin AE1/AE3 immunostaining |journal=Am. J. Surg. Pathol. |volume=32 |issue=7 |pages=1051–9 |date=July 2008 |pmid=18496143 |doi=10.1097/PAS.0b013e3181609d7d |url=}}</ref><ref name="pmid182803333">{{cite journal |vauthors=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF, Nghiem P |title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features |journal=J. Am. Acad. Dermatol. |volume=58 |issue=3 |pages=375–81 |date=March 2008 |pmid=18280333 |pmc=2335370 |doi=10.1016/j.jaad.2007.11.020 |url=}}</ref><br />
** [[Cytokeratin]] AE1/AE3<br />
** [[CAM]] 5.2<br />
** Pan-[[cytokeratin]] <br />
** Epithelial membrane [[antigen]] <br />
** Ber-EP4<br />
* Merkel cell carcinoma may also shows positive for [[neuroendocrine]] markers such as:<ref name="pmid25765179">{{cite journal |vauthors=Gardair C, Samimi M, Touzé A, Coursaget P, Lorette G, Caille A, Wierzbicka E, Croué A, Avenel-Audran M, Aubin F, Kerdraon R, Estève E, Beneton N, Guyétant S |title=Somatostatin Receptors 2A and 5 Are Expressed in Merkel Cell Carcinoma with No Association with Disease Severity |journal=Neuroendocrinology |volume=101 |issue=3 |pages=223–35 |date=2015 |pmid=25765179 |doi=10.1159/000381062 |url=}}</ref><ref name="pmid182803332">{{cite journal |vauthors=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF, Nghiem P |title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features |journal=J. Am. Acad. Dermatol. |volume=58 |issue=3 |pages=375–81 |date=March 2008 |pmid=18280333 |pmc=2335370 |doi=10.1016/j.jaad.2007.11.020 |url=}}</ref><br />
** [[Chromogranin]]<br />
** [[Synaptophysin]]<br />
** [[Calcitonin]] <br />
** [[Vasoactive intestinal peptide]]<br />
** [[Somatostatin]] receptors (SSTRs)<br />
'''Cytogenetic and molecular analysis'''<br />
* Many [[chromosomal abnormalities]] have been detected in merkel cell cancer but most commonly affected are:<ref name="pmid3422041">{{cite journal |vauthors=Sozzi G, Bertoglio MG, Pilotti S, Rilke F, Pierotti MA, Della Porta G |title=Cytogenetic studies in primary and metastatic neuroendocrine Merkel cell carcinoma |journal=Cancer Genet. Cytogenet. |volume=30 |issue=1 |pages=151–8 |date=January 1988 |pmid=3422041 |doi= |url=}}</ref><ref name="pmid9537255">{{cite journal |vauthors=Van Gele M, Speleman F, Vandesompele J, Van Roy N, Leonard JH |title=Characteristic pattern of chromosomal gains and losses in Merkel cell carcinoma detected by comparative genomic hybridization |journal=Cancer Res. |volume=58 |issue=7 |pages=1503–8 |date=April 1998 |pmid=9537255 |doi= |url=}}</ref><ref name="pmid8504402">{{cite journal |vauthors=Leonard JH, Leonard P, Kearsley JH |title=Chromosomes 1, 11, and 13 are frequently involved in karyotypic abnormalities in metastatic Merkel cell carcinoma |journal=Cancer Genet. Cytogenet. |volume=67 |issue=1 |pages=65–70 |date=May 1993 |pmid=8504402 |doi= |url=}}</ref><ref name="pmid25329450">{{cite journal |vauthors=Erstad DJ, Cusack JC |title=Mutational analysis of merkel cell carcinoma |journal=Cancers (Basel) |volume=6 |issue=4 |pages=2116–36 |date=October 2014 |pmid=25329450 |pmc=4276959 |doi=10.3390/cancers6042116 |url=}}</ref><br />
** [[Chromosome]] 1: Especially involving p and q arms<br />
** [[Chromosome]] 5 <br />
** [[Chromosome]] 6<br />
** [[Chromosome]] 8 <br />
** [[Chromosome]] 13 <br />
* <br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_laboratory_tests&diff=1543876
Merkel cell cancer laboratory tests
2019-01-31T02:53:38Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}}<br />
<br />
==Overview==<br />
Laboratory findings consistent with the diagnosis of merkel cell cancer include [[immunohistochemistry]], [[Cytogenetics|cytogenetic]] and [[molecular]] analysis, and [[Lymph node biopsy|lymph node biopsy.]] .<br />
==Laboratory findings==<br />
Laboratory findings consistent with the diagnosis of merkel cell cancer include:<br />
<br />
'''Lymph Node Biopsy'''<br />
* [[Sentinel lymph node]] [[biopsy]] is the [[Gold standard (test)|gold standard]] test for the diagnosis of merkel cell cancer.<ref name="pmid26480031">{{cite journal |vauthors=Gunaratne DA, Howle JR, Veness MJ |title=Sentinel lymph node biopsy in Merkel cell carcinoma: a 15-year institutional experience and statistical analysis of 721 reported cases |journal=Br. J. Dermatol. |volume=174 |issue=2 |pages=273–81 |date=February 2016 |pmid=26480031 |doi=10.1111/bjd.14240 |url=}}</ref><ref name="pmid29549898">{{cite journal |vauthors=Sims JR, Grotz TE, Pockaj BA, Joseph RW, Foote RL, Otley CC, Weaver AL, Jakub JW, Price DL |title=Sentinel lymph node biopsy in Merkel cell carcinoma: The Mayo Clinic experience of 150 patients |journal=Surg Oncol |volume=27 |issue=1 |pages=11–17 |date=March 2018 |pmid=29549898 |doi=10.1016/j.suronc.2017.10.005 |url=}}</ref><ref name="pmid7633811">{{cite journal |vauthors=Haag ML, Glass LF, Fenske NA |title=Merkel cell carcinoma. Diagnosis and treatment |journal=Dermatol Surg |volume=21 |issue=8 |pages=669–83 |date=August 1995 |pmid=7633811 |doi= |url=}}</ref><ref name="pmid11357530">{{cite journal |vauthors=Helmbold P, Schröter S, Holzhausen HJ, Hartschuh W, Marsch WC |title=[Merkel cell carcinoma: a diagnostic and therapeutic challenge] |language=German |journal=Chirurg |volume=72 |issue=4 |pages=396–401 |date=April 2001 |pmid=11357530 |doi= |url=}}</ref><ref name="pmid18280333">{{cite journal |vauthors=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF, Nghiem P |title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features |journal=J. Am. Acad. Dermatol. |volume=58 |issue=3 |pages=375–81 |date=March 2008 |pmid=18280333 |pmc=2335370 |doi=10.1016/j.jaad.2007.11.020 |url=}}</ref><br />
* [[Sentinel lymph node]] [[biopsy]] plays a crucial role in:<br />
** Accurate [[Cancer staging|staging]] and <br />
** Appropriate management according to the [[Cancer staging|staging]].<br />
'''Immunohistochemistry''' <br />
* [[Epithelial]] markers play an important role in the diagnosis of merkel cell cancer which include:<ref name="pmid18496143">{{cite journal |vauthors=Weinbreck N, Marie B, Bressenot A, Montagne K, Joud A, Baumann C, Klein O, Vignaud JM |title=Immunohistochemical markers to distinguish between hemangioblastoma and metastatic clear-cell renal cell carcinoma in the brain: utility of aquaporin1 combined with cytokeratin AE1/AE3 immunostaining |journal=Am. J. Surg. Pathol. |volume=32 |issue=7 |pages=1051–9 |date=July 2008 |pmid=18496143 |doi=10.1097/PAS.0b013e3181609d7d |url=}}</ref><ref name="pmid182803333">{{cite journal |vauthors=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF, Nghiem P |title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features |journal=J. Am. Acad. Dermatol. |volume=58 |issue=3 |pages=375–81 |date=March 2008 |pmid=18280333 |pmc=2335370 |doi=10.1016/j.jaad.2007.11.020 |url=}}</ref><br />
** [[Cytokeratin]] AE1/AE3<br />
** [[CAM]] 5.2<br />
** Pan-[[cytokeratin]] <br />
** Epithelial membrane [[antigen]] <br />
** Ber-EP4<br />
* Merkel cell carcinoma may also shows positive for [[neuroendocrine]] markers such as:<ref name="pmid25765179">{{cite journal |vauthors=Gardair C, Samimi M, Touzé A, Coursaget P, Lorette G, Caille A, Wierzbicka E, Croué A, Avenel-Audran M, Aubin F, Kerdraon R, Estève E, Beneton N, Guyétant S |title=Somatostatin Receptors 2A and 5 Are Expressed in Merkel Cell Carcinoma with No Association with Disease Severity |journal=Neuroendocrinology |volume=101 |issue=3 |pages=223–35 |date=2015 |pmid=25765179 |doi=10.1159/000381062 |url=}}</ref><ref name="pmid182803332">{{cite journal |vauthors=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF, Nghiem P |title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features |journal=J. Am. Acad. Dermatol. |volume=58 |issue=3 |pages=375–81 |date=March 2008 |pmid=18280333 |pmc=2335370 |doi=10.1016/j.jaad.2007.11.020 |url=}}</ref><br />
** [[Chromogranin]]<br />
** [[Synaptophysin]]<br />
** [[Calcitonin]] <br />
** [[Vasoactive intestinal peptide]]<br />
** [[Somatostatin]] receptors (SSTRs)<br />
'''Cytogenetic and molecular analysis'''<br />
* Many [[chromosomal abnormalities]] have been detected in merkel cell cancer but most commonly affected are:<ref name="pmid3422041">{{cite journal |vauthors=Sozzi G, Bertoglio MG, Pilotti S, Rilke F, Pierotti MA, Della Porta G |title=Cytogenetic studies in primary and metastatic neuroendocrine Merkel cell carcinoma |journal=Cancer Genet. Cytogenet. |volume=30 |issue=1 |pages=151–8 |date=January 1988 |pmid=3422041 |doi= |url=}}</ref><ref name="pmid9537255">{{cite journal |vauthors=Van Gele M, Speleman F, Vandesompele J, Van Roy N, Leonard JH |title=Characteristic pattern of chromosomal gains and losses in Merkel cell carcinoma detected by comparative genomic hybridization |journal=Cancer Res. |volume=58 |issue=7 |pages=1503–8 |date=April 1998 |pmid=9537255 |doi= |url=}}</ref><ref name="pmid8504402">{{cite journal |vauthors=Leonard JH, Leonard P, Kearsley JH |title=Chromosomes 1, 11, and 13 are frequently involved in karyotypic abnormalities in metastatic Merkel cell carcinoma |journal=Cancer Genet. Cytogenet. |volume=67 |issue=1 |pages=65–70 |date=May 1993 |pmid=8504402 |doi= |url=}}</ref><ref name="pmid25329450">{{cite journal |vauthors=Erstad DJ, Cusack JC |title=Mutational analysis of merkel cell carcinoma |journal=Cancers (Basel) |volume=6 |issue=4 |pages=2116–36 |date=October 2014 |pmid=25329450 |pmc=4276959 |doi=10.3390/cancers6042116 |url=}}</ref><br />
** [[Chromosome]] 1: Especially involving p and q arms<br />
** [[Chromosome]] 5 <br />
** [[Chromosome]] 6<br />
** [[Chromosome]] 8 <br />
** [[Chromosome]] 13 <br />
* <br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_physical_examination&diff=1543873
Merkel cell cancer physical examination
2019-01-31T02:50:59Z
<p>Sargun Walia: </p>
<hr />
<div>{{Merkel cell cancer}}<br />
{{CMG}}; {{AE}} {{VKG}} <br />
<br />
==Overview==<br />
Physical exam findings of merkel cell cancer include red/violaceous skin [[mass]] that appear in [[Sun exposure|sun exposed]] areas.<br />
==Physical examination==<br />
[[Physical examination]] of patients with merkel cell cancer is usually remarkable for flesh-colored or bluish-red, intracutaneous [[Nodule (medicine)|nodules]].<br />
<br />
=== Appearance of the Patient ===<br />
* [[Patient|Patients]] with merkel cell cancer usually appear normal.<br />
<br />
=== Vital Signs ===<br />
* Mostly all [[Vital signs|vitals]] are within normal limits.<br />
<br />
=== Skin ===<br />
{| align="right"<br />
|<br />
[[File:Merkel Cell Cancer.gif|alt=Merkel Cell Cancer|center|thumb|'''Merkel Cell Cancer''' [https://commons.wikimedia.org/wiki/File:Merkel_cell_carcinoma_arm.jpg#/media/File:Merkel_cell_carcinoma_arm.jpg Source:Wikimedia Commons]]]<br />
|}<br />
* Skin examination of patients with merkel cell cancer is significant for:<ref name="pmid18280333">{{cite journal |vauthors=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF, Nghiem P |title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features |journal=J. Am. Acad. Dermatol. |volume=58 |issue=3 |pages=375–81 |date=March 2008 |pmid=18280333 |pmc=2335370 |doi=10.1016/j.jaad.2007.11.020 |url=}}</ref><ref name="pmid29085720">{{cite journal |vauthors=Geller S, Pulitzer M, Brady MS, Myskowski PL |title=Dermoscopic assessment of vascular structures in solitary small pink lesions-differentiating between good and evil |journal=Dermatol Pract Concept |volume=7 |issue=3 |pages=47–50 |date=July 2017 |pmid=29085720 |doi=10.5826/dpc.0703a10 |url=}}</ref><ref name="pmid23574613">{{cite journal |vauthors=Jalilian C, Chamberlain AJ, Haskett M, Rosendahl C, Goh M, Beck H, Keir J, Varghese P, Mar A, Hosking S, Hussain I, Rich M, McLean C, Kelly JW |title=Clinical and dermoscopic characteristics of Merkel cell carcinoma |journal=Br. J. Dermatol. |volume=169 |issue=2 |pages=294–7 |date=August 2013 |pmid=23574613 |doi=10.1111/bjd.12376 |url=}}</ref><br />
**A mass that appear in sun exposed areas of the skin.<br />
**Mass that usually 1-2 cm.<br />
**Non-tender, firm, shiny, flesh-colored or bluish-red or pink colour intracutaneous [[Nodule (medicine)|nodule]].<br />
**Presence of a polymorphous [[vascular]] pattern is very characteristic to merkel cell cancer.<br />
**Dome-shaped or raised nodule<br />
**Red/violaceous skin mass<br />
**+/- Crusting and [[ulceration]]<br />
**According to National Cancer Database the following are the most common locations of [[merkel cell cancer]] in decreasing order:<br />
**#[[Head]] and [[neck]]<br />
**#[[Upper limbs]](UL) and [[shoulder]]<br />
**#[[Lower limbs]](LL) and [[Hip (anatomy)|hip]]<br />
**#[[Trunk]]<br />
<br />
=== HEENT ===<br />
* HEENT examination of patients with [[merkel cell cancer]] is usually shows the following:<ref name="pmid29072302">{{cite journal |vauthors=Becker JC, Stang A, DeCaprio JA, Cerroni L, Lebbé C, Veness M, Nghiem P |title=Merkel cell carcinoma |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17077 |date=October 2017 |pmid=29072302 |pmc=6054450 |doi=10.1038/nrdp.2017.77 |url=}}</ref><ref name="pmid30085832">{{cite journal |vauthors=Schmerling RA, Casas JG, Cinat G, Ospina FEG, Kassuga LEBP, Tlahuel JLM, Mazzuoccolo LD |title=Burden of Disease, Early Diagnosis, and Treatment of Merkel Cell Carcinoma in Latin America |journal=J Glob Oncol |volume= |issue=4 |pages=1–11 |date=July 2018 |pmid=30085832 |pmc=6223512 |doi=10.1200/JGO.18.00041 |url=}}</ref><br />
** [[Mass]] measuring 2 X 3 cm most commonly in the right nasal [[Ala (anatomy)|ala]].<br />
** Due to the [[mass]] effect patients with merkel cell cancer might experience nasal obstruction.<br />
<br />
=== Lungs ===<br />
* [[Pulmonary]] examination of patients with merkel cell cancer is usually normal.<br />
<br />
=== Heart ===<br />
* [[Circulatory system|Cardiovascular]] examination of patients with merkel cell cancer is usually normal.<br />
<br />
=== Abdomen ===<br />
* [[Abdominal]] examination of patients with merkel cell cancer is usually normal.<br />
<br />
=== Back ===<br />
* [[Human back|Back]] examination of patients with merkel cell cancer is usually normal.<br />
<br />
=== Genitourinary ===<br />
* [[Genitourinary]] examination of patients with merkel cell cancer is usually normal.<br />
<br />
=== Neuromuscular ===<br />
* [[Neuromuscular]] examination of patients with merkel cell cancer shows the following:<ref name="Honeybul2016">{{cite journal|last1=Honeybul|first1=S.|title=Cerebral metastases from Merkel cell carcinoma: long-term survival|journal=Journal of Surgical Case Reports|volume=2016|issue=10|year=2016|pages=rjw165|issn=2042-8812|doi=10.1093/jscr/rjw165}}</ref><ref name="pmid11243282">{{cite journal |vauthors=Eggers SD, Salomao DR, Dinapoli RP, Vernino S |title=Paraneoplastic and metastatic neurologic complications of Merkel cell carcinoma |journal=Mayo Clin. Proc. |volume=76 |issue=3 |pages=327–30 |date=March 2001 |pmid=11243282 |doi=10.4065/76.3.327 |url=}}</ref><br />
** [[Clonus]] may be present<br />
** Sudden onset of severe [[headache]]<br />
** Gait disturbance <br />
** [[Confusion]]<br />
** Brain [[metastasis]] from merkel cell carcinoma <br />
<br />
=== Extremities ===<br />
* [[Extremities]] examination of patients with merkel cell carcinoma is usually normal.<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
<br />
{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_physical_examination&diff=1543870
Merkel cell cancer physical examination
2019-01-31T02:47:09Z
<p>Sargun Walia: </p>
<hr />
<div>{{Merkel cell cancer}}<br />
{{CMG}}; {{AE}} {{VKG}} <br />
<br />
==Overview==<br />
Physical exam findings of merkel cell cancer include red/violaceous skin [[mass]] that appear in [[Sun exposure|sun exposed]] areas.<br />
==Physical examination==<br />
[[Physical examination]] of patients with merkel cell cancer is usually remarkable for flesh-colored or bluish-red, intracutaneous [[Nodule (medicine)|nodules]].<br />
<br />
=== Appearance of the Patient ===<br />
* [[Patient|Patients]] with merkel cell cancer usually appear normal.<br />
<br />
=== Vital Signs ===<br />
* Mostly all [[Vital signs|vitals]] are within normal limits.<br />
<br />
=== Skin ===<br />
{|align="right"<br />
|<br />
[[File:Merkel Cell Cancer.gif|alt=Merkel Cell Cancer|center|thumb|'''Merkel Cell Cancer''' [https://commons.wikimedia.org/wiki/File:Merkel_cell_carcinoma_arm.jpg#/media/File:Merkel_cell_carcinoma_arm.jpg Source:Wikimedia Commons]]]<br />
|}<br />
* Skin examination of patients with merkel cell cancer is significant for:<ref name="pmid18280333">{{cite journal |vauthors=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF, Nghiem P |title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features |journal=J. Am. Acad. Dermatol. |volume=58 |issue=3 |pages=375–81 |date=March 2008 |pmid=18280333 |pmc=2335370 |doi=10.1016/j.jaad.2007.11.020 |url=}}</ref><ref name="pmid29085720">{{cite journal |vauthors=Geller S, Pulitzer M, Brady MS, Myskowski PL |title=Dermoscopic assessment of vascular structures in solitary small pink lesions-differentiating between good and evil |journal=Dermatol Pract Concept |volume=7 |issue=3 |pages=47–50 |date=July 2017 |pmid=29085720 |doi=10.5826/dpc.0703a10 |url=}}</ref><ref name="pmid23574613">{{cite journal |vauthors=Jalilian C, Chamberlain AJ, Haskett M, Rosendahl C, Goh M, Beck H, Keir J, Varghese P, Mar A, Hosking S, Hussain I, Rich M, McLean C, Kelly JW |title=Clinical and dermoscopic characteristics of Merkel cell carcinoma |journal=Br. J. Dermatol. |volume=169 |issue=2 |pages=294–7 |date=August 2013 |pmid=23574613 |doi=10.1111/bjd.12376 |url=}}</ref><br />
**A mass that appear in sun exposed areas of the skin.<br />
**Mass that usually 1-2 cm.<br />
**Non-tender, firm, shiny, flesh-colored or bluish-red or pink colour intracutaneous [[Nodule (medicine)|nodule]].<br />
**Presence of a polymorphous [[vascular]] pattern is very characteristic to merkel cell cancer.<br />
**Dome-shaped or raised nodule<br />
**Red/violaceous skin mass<br />
**+/- Crusting and [[ulceration]]<br />
**According to National Cancer Database the following are the most common locations of [[merkel cell cancer]] in decreasing order:<br />
**#[[Head]] and [[neck]]<br />
**#[[Upper limbs]](UL) and [[shoulder]]<br />
**#[[Lower limbs]](LL) and [[Hip (anatomy)|hip]]<br />
**#[[Trunk]]<br />
<br />
=== HEENT ===<br />
* HEENT examination of patients with [[merkel cell cancer]] is usually shows the following:<ref name="pmid29072302">{{cite journal |vauthors=Becker JC, Stang A, DeCaprio JA, Cerroni L, Lebbé C, Veness M, Nghiem P |title=Merkel cell carcinoma |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17077 |date=October 2017 |pmid=29072302 |pmc=6054450 |doi=10.1038/nrdp.2017.77 |url=}}</ref><ref name="pmid30085832">{{cite journal |vauthors=Schmerling RA, Casas JG, Cinat G, Ospina FEG, Kassuga LEBP, Tlahuel JLM, Mazzuoccolo LD |title=Burden of Disease, Early Diagnosis, and Treatment of Merkel Cell Carcinoma in Latin America |journal=J Glob Oncol |volume= |issue=4 |pages=1–11 |date=July 2018 |pmid=30085832 |pmc=6223512 |doi=10.1200/JGO.18.00041 |url=}}</ref><br />
** [[Mass]] measuring 2 X 3 cm most commonly in the right nasal [[Ala (anatomy)|ala]].<br />
** Due to the [[mass]] effect patients with [[merkel cell cancer]] might experience nasal obstruction.<br />
<br />
=== Lungs ===<br />
* [[Pulmonary]] examination of patients with [[merkel cell cancer]] is usually normal.<br />
<br />
=== Heart ===<br />
* [[Circulatory system|Cardiovascular]] examination of patients with [[merkel cell cancer]] is usually normal.<br />
<br />
=== Abdomen ===<br />
* [[Abdominal]] examination of patients with [[merkel cell cancer]] is usually normal.<br />
<br />
=== Back ===<br />
* [[Human back|Back]] examination of patients with [[merkel cell cancer]] is usually normal.<br />
<br />
=== Genitourinary ===<br />
* [[Genitourinary]] examination of patients with [[merkel cell cancer]] is usually normal.<br />
<br />
=== Neuromuscular ===<br />
* [[Neuromuscular]] examination of patients with [[merkel cell cancer]] shows the following:<ref name="Honeybul2016">{{cite journal|last1=Honeybul|first1=S.|title=Cerebral metastases from Merkel cell carcinoma: long-term survival|journal=Journal of Surgical Case Reports|volume=2016|issue=10|year=2016|pages=rjw165|issn=2042-8812|doi=10.1093/jscr/rjw165}}</ref><ref name="pmid11243282">{{cite journal |vauthors=Eggers SD, Salomao DR, Dinapoli RP, Vernino S |title=Paraneoplastic and metastatic neurologic complications of Merkel cell carcinoma |journal=Mayo Clin. Proc. |volume=76 |issue=3 |pages=327–30 |date=March 2001 |pmid=11243282 |doi=10.4065/76.3.327 |url=}}</ref><br />
** [[Clonus]] may be present<br />
** Sudden onset of severe [[headache]]<br />
** Gait disturbance <br />
** [[Confusion]]<br />
** Brain [[metastasis]] from [[merkel cell carcinoma]] <br />
<br />
=== Extremities ===<br />
* [[Extremities]] examination of patients with [[merkel cell carcinoma]] is usually normal.<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
<br />
{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
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[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_history_and_symptoms&diff=1543867
Merkel cell cancer history and symptoms
2019-01-31T02:39:41Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} {{AE}} {{VKG}}<br />
==Overview==<br />
Patients with merkel cell carcinoma usually present with a rapid growing, painless, small [[mass]] that is typically located on sun exposed area of the body.<br />
==History and Symptoms==<br />
* The majority of patients with merkel cell carcinoma are [[asymptomatic]] almost 88 percent.<br />
<br />
=== History ===<br />
Patients with merkel cell carcinoma may have a positive history of:<ref name="pmid26433246">{{cite journal |vauthors=Suárez AL, Louis P, Kitts J, Busam K, Myskowski PL, Wong RJ, Chen CS, Spencer P, Lacouture M, Pulitzer MP |title=Clinical and dermoscopic features of combined cutaneous squamous cell carcinoma (SCC)/neuroendocrine [Merkel cell] carcinoma (MCC) |journal=J. Am. Acad. Dermatol. |volume=73 |issue=6 |pages=968–75 |date=December 2015 |pmid=26433246 |pmc=5026117 |doi=10.1016/j.jaad.2015.08.041 |url=}}</ref><br />
* Severe [[sun exposure]]<br />
* [[Organ transplant|Organ transplantation]]<br />
* [[Viral]] [[infection]] like<br />
** MCPvY <br />
** [[Human Immunodeficiency Virus (HIV)|HIV]]<br />
* Taking [[Immunosuppression|immunosuppressive]] medications<br />
* <br />
<br />
* <br />
<br />
=== Common Symptoms ===<br />
Common symptoms of [[merkel cell carcinoma]] include<ref name="pmid18280333">{{cite journal |vauthors=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF, Nghiem P |title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features |journal=J. Am. Acad. Dermatol. |volume=58 |issue=3 |pages=375–81 |date=March 2008 |pmid=18280333 |pmc=2335370 |doi=10.1016/j.jaad.2007.11.020 |url=}}</ref><ref name="pmid23574613">{{cite journal |vauthors=Jalilian C, Chamberlain AJ, Haskett M, Rosendahl C, Goh M, Beck H, Keir J, Varghese P, Mar A, Hosking S, Hussain I, Rich M, McLean C, Kelly JW |title=Clinical and dermoscopic characteristics of Merkel cell carcinoma |journal=Br. J. Dermatol. |volume=169 |issue=2 |pages=294–7 |date=August 2013 |pmid=23574613 |doi=10.1111/bjd.12376 |url=}}</ref><ref name="pmid19401065">{{cite journal |vauthors=Zhan FQ, Packianathan VS, Zeitouni NC |title=Merkel cell carcinoma: a review of current advances |journal=J Natl Compr Canc Netw |volume=7 |issue=3 |pages=333–9 |date=March 2009 |pmid=19401065 |doi= |url=}}</ref><br />
* Rapid growing, painless and small [[mass]] that typically located on a sun exposed area of the body.<br />
* The most common location of [[merkel cell carcinoma]] is the periorbital region on the face.<br />
* The [[lesions]] in [[merkel cell carcinoma]] appear as [[plaques]] or violaceous [[solitary]] and dome-shaped nodules.<br />
* The [[nodules]] in [[merkel cell carcinoma]] appear as red or deep purple in colour. <br />
* The most important features in [[merkel cell carcinoma]] can be summarized in an acronym: '''AEIOU''' <br />
** '''A'''-'''[[Asymptomatic]]''' <br />
** '''E-Expanding rapidly''' <br />
** '''I-[[Immunosuppression|Immune suppression]]''' <br />
** '''O-Older than 50 years''' <br />
** '''U-[[Ultraviolet]]-exposure''' <br />
<br />
* <br />
<br />
<br />
<br />
==References==<br />
<br />
{{Reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_staging&diff=1543866
Merkel cell cancer staging
2019-01-31T02:37:40Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}} {{AAM}}<br />
<br />
==Overview==<br />
The staging of merkel cell cancer is based on the [[TNM staging system]].<br />
==Staging==<br />
<br />
* According to the [[TNM staging system]], merkel cell cancer is classified into 4 stages based on the following:<br />
** [[Tumor]] size<br />
** Involvement of [[lymph nodes]] <br />
** [[Metastasis]]<br />
* The stages of merkel cell carcinoma are shown in the table below:<ref name="pmid27198511">{{cite journal |vauthors=Harms KL, Healy MA, Nghiem P, Sober AJ, Johnson TM, Bichakjian CK, Wong SL |title=Analysis of Prognostic Factors from 9387 Merkel Cell Carcinoma Cases Forms the Basis for the New 8th Edition AJCC Staging System |journal=Ann. Surg. Oncol. |volume=23 |issue=11 |pages=3564–3571 |date=October 2016 |pmid=27198511 |doi=10.1245/s10434-016-5266-4 |url=}}</ref><ref name="pmid20646783">{{cite journal |vauthors=Lemos BD, Storer BE, Iyer JG, Phillips JL, Bichakjian CK, Fang LC, Johnson TM, Liegeois-Kwon NJ, Otley CC, Paulson KG, Ross MI, Yu SS, Zeitouni NC, Byrd DR, Sondak VK, Gershenwald JE, Sober AJ, Nghiem P |title=Pathologic nodal evaluation improves prognostic accuracy in Merkel cell carcinoma: analysis of 5823 cases as the basis of the first consensus staging system |journal=J. Am. Acad. Dermatol. |volume=63 |issue=5 |pages=751–61 |date=November 2010 |pmid=20646783 |pmc=2956767 |doi=10.1016/j.jaad.2010.02.056 |url=}}</ref><ref name="pmid22030017">{{cite journal |vauthors=Foote M, Veness M, Zarate D, Poulsen M |title=Merkel cell carcinoma: the prognostic implications of an occult primary in stage IIIB (nodal) disease |journal=J. Am. Acad. Dermatol. |volume=67 |issue=3 |pages=395–9 |date=September 2012 |pmid=22030017 |doi=10.1016/j.jaad.2011.09.009 |url=}}</ref><ref name="pmid30249978">{{cite journal |vauthors=Rastrelli M, Ferrazzi B, Cavallin F, Chiarion Sileni V, Pigozzo J, Fabozzi A, Tropea S, Vecchiato A, Costa A, Parisi A, Rossi CR, Del Fiore P, Alaibac M |title=Prognostic Factors in Merkel Cell Carcinoma: A Retrospective Single-Center Study in 90 Patients |journal=Cancers (Basel) |volume=10 |issue=10 |pages= |date=September 2018 |pmid=30249978 |pmc=6210570 |doi=10.3390/cancers10100350 |url=}}</ref><br />
<br />
{| {{table}} cellpadding="4" cellspacing="0" style="border:#c9c9c9 1px solid; margin: 1em 1em 1em 0; border-collapse: collapse;"<br />
| align="center" style="background:#f0f0f0;" |'''Stage'''<br />
| align="center" style="background:#f0f0f0;" |'''Primary Tumor (T)'''<br />
| align="center" style="background:#f0f0f0;" |'''Lymph Node (N)'''<br />
| align="center" style="background:#f0f0f0;" |'''Metastasis (M)'''<br />
|-<br />
| 0||[[In situ]]||<br />
* No regional lymph node [[metastasis]]<br />
|<br />
* No distant [[metastasis]]<br />
|-<br />
| IA||≤2 cm ||<br />
* Nodes negative by [[Pathology|pathologic]] exam<br />
|<br />
* No distant [[metastasis]]<br />
|-<br />
| IB||≤2 cm ||<br />
* Nodes negative by clinical exam (no pathologic node exam performed)<br />
|<br />
* No distant [[metastasis]]<br />
|-<br />
| IIA||>2 cm||<br />
* Nodes negative by pathologic exam<br />
|<br />
* No distant [[metastasis]]<br />
|-<br />
| IIB||>2 cm||<br />
* Nodes negative by clinical exam (no pathologic node exam performed)<br />
|<br />
* No distant [[metastasis]]<br />
|-<br />
| IIC||Invades [[bone]], [[muscle]] and [[cartilage]]||<br />
* No regional lymph node [[metastasis]] detected<br />
|<br />
* No distant [[metastasis]]<br />
|-<br />
| IIIA||Any size [[tumor]] (includes invading tumors)||<br />
* [[Micrometastasis]] (which are diagnosed after [[Sentinel lymph node|sentinel]] or [[elective]] [[lymphadenectomy]])<br />
|<br />
* No distant [[metastasis]]<br />
|-<br />
| IIIB||Any size [[tumor]] (includes invading tumors)||Positive for:<br />
* Macrometastasis <br />
<br />
* In transit [[metastasis]] <br />
|<br />
* No distant [[metastasis]]<br />
|-<br />
| IV||Any size [[tumor]] (includes invading tumors)||<br />
* Any [[lymph node]] [[metastasis]]<br />
|<br />
* [[Metastasis]] beyond regional [[lymph nodes]]<br />
|}<br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_natural_history&diff=1543865
Merkel cell cancer natural history
2019-01-31T02:34:00Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}} {{AAM}}<br />
==Overview==<br />
Merkel cell cancer is an aggressive [[cutaneous]] cancer that grows very rapidly. Merkel cell cancer usually [[Metastasis|metastasizes]] first to regional [[Lymph node|lymph nodes]]. Merkel cell cancer is a highly aggressive [[tumor]] with a [[mortality]] rate that approaches 30% to 40% within 3 years of diagnosis. <br />
<br />
== Natural History, Complications, and Prognosis ==<br />
<br />
===Natural History===<br />
*Merkel cell cancer is an aggressive [[cutaneous]] [[tumor]] that grows rapidly.<br />
*[[Merkel cell cancer]] usually [[Metastasize|metastasizes]] to: <br />
**[[Lymph nodes]] <br />
**[[Liver]] <br />
**[[Lungs]] <br />
**[[Brain]] <br />
**[[Bones]]<br />
===Complications===<br />
Common [[complications]] of [[merkel cell carcinoma]] include:<ref name="pmid112432822">{{cite journal |vauthors=Eggers SD, Salomao DR, Dinapoli RP, Vernino S |title=Paraneoplastic and metastatic neurologic complications of Merkel cell carcinoma |journal=Mayo Clin. Proc. |volume=76 |issue=3 |pages=327–30 |date=March 2001 |pmid=11243282 |doi=10.4065/76.3.327 |url=}}</ref><br />
* [[Neurology|Neurologic]] [[complications]] which include:<ref name="pmid7760100">{{cite journal |vauthors=Snodgrass SM, Landy H, Markoe AM, Feun L |title=Neurologic complications of Merkel cell carcinoma |journal=J. Neurooncol. |volume=22 |issue=3 |pages=231–4 |date=1994 |pmid=7760100 |doi= |url=}}</ref><br />
** [[Seizure|Seizures]]<br />
** Bilateral radiculopathies<br />
** [[Myoclonus]]<br />
** [[Cauda equina syndrome]] <br />
** Altered mental status<br />
* [[Leptomeningeal]] [[carcinomatosis]]<br />
<br />
===Prognosis===<br />
*Merkel cell cancer is a highly aggressive tumor with a [[mortality]] rate that approaches 30% to 40% within 3 years of diagnosis. <br />
*If diagnosed early, merkel cell carcinoma has a good prognosis with a 5-year survival rate of approximately 90%.<br />
*The prognosis depend on the following:<ref name="pmid18798233">{{cite journal |vauthors=Andea AA, Coit DG, Amin B, Busam KJ |title=Merkel cell carcinoma: histologic features and prognosis |journal=Cancer |volume=113 |issue=9 |pages=2549–58 |date=November 2008 |pmid=18798233 |doi=10.1002/cncr.23874 |url=}}</ref><ref name="pmid21422430">{{cite journal |vauthors=Paulson KG, Iyer JG, Tegeder AR, Thibodeau R, Schelter J, Koba S, Schrama D, Simonson WT, Lemos BD, Byrd DR, Koelle DM, Galloway DA, Leonard JH, Madeleine MM, Argenyi ZB, Disis ML, Becker JC, Cleary MA, Nghiem P |title=Transcriptome-wide studies of merkel cell carcinoma and validation of intratumoral CD8+ lymphocyte invasion as an independent predictor of survival |journal=J. Clin. Oncol. |volume=29 |issue=12 |pages=1539–46 |date=April 2011 |pmid=21422430 |pmc=3082974 |doi=10.1200/JCO.2010.30.6308 |url=}}</ref><ref name="pmid22467679">{{cite journal |vauthors=Sihto H, Böhling T, Kavola H, Koljonen V, Salmi M, Jalkanen S, Joensuu H |title=Tumor infiltrating immune cells and outcome of Merkel cell carcinoma: a population-based study |journal=Clin. Cancer Res. |volume=18 |issue=10 |pages=2872–81 |date=May 2012 |pmid=22467679 |doi=10.1158/1078-0432.CCR-11-3020 |url=}}</ref><ref name="pmid25239411">{{cite journal |vauthors=Paulson KG, Iyer JG, Simonson WT, Blom A, Thibodeau RM, Schmidt M, Pietromonaco S, Sokil M, Warton EM, Asgari MM, Nghiem P |title=CD8+ lymphocyte intratumoral infiltration as a stage-independent predictor of Merkel cell carcinoma survival: a population-based study |journal=Am. J. Clin. Pathol. |volume=142 |issue=4 |pages=452–8 |date=October 2014 |pmid=25239411 |pmc=4174450 |doi=10.1309/AJCPIKDZM39CRPNC |url=}}</ref><br />
**Stage at diagnosis (1st most potent [[prognostic]] factor).<br />
**[[Lymph node]] involvement (2nd most important [[prognostic]] factor).<br />
**[[Merkel cell]] [[polyomavirus]] (MCPyV) viral load also play an significant role in prognosis of merkel cell cancer.<br />
**[[Cancer]] location<br />
**[[Cancer]] depth<br />
**Primary vs recurrent<br />
*'''Lymphovascular [[invasion]]''' in merkel cell cancer patients associated with poor prognosis.<br />
*'''Intratumoral [[lymphocyte]] infiltration''' in merkel cell cancer patients associated with good prognosis due to presence of [[CD8]]+ [[lymphocyte]] [[Infiltration (medical)|infiltration]].<ref name="pmid21865945">{{cite journal |vauthors=Fields RC, Busam KJ, Chou JF, Panageas KS, Pulitzer MP, Allen PJ, Kraus DH, Brady MS, Coit DG |title=Five hundred patients with Merkel cell carcinoma evaluated at a single institution |journal=Ann. Surg. |volume=254 |issue=3 |pages=465–73; discussion 473–5 |date=September 2011 |pmid=21865945 |doi=10.1097/SLA.0b013e31822c5fc1 |url=}}</ref><br />
*'''p63 expression''' in [[merkel cell cancer]] patients associated with poor [[prognosis]].<br />
==References==<br />
{{Reflist|2}}<br />
<br />
[[Category:Needs content]]<br />
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[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_screening&diff=1543864
Merkel cell cancer screening
2019-01-31T02:28:58Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}} {{AAM}}<br />
==Overview==<br />
According to the [[United states preventive services task force recommendations scheme]] ([[United states preventive services task force recommendations scheme|USPSTF]]), there is insufficient evidence to recommend routine [[Screening (medicine)|screening]] for [[skin cancers]], including merkel cell cancer.<br />
==Screening==<br />
According to the [[United states preventive services task force recommendations scheme]] ([[United states preventive services task force recommendations scheme|USPSTF]]), there is insufficient evidence to recommend routine [[Screening (medicine)|screening]] for [[skin cancers]], including merkel cell cancer.<ref name="pmid12522368">{{cite journal |vauthors=Geller AC, Zhang Z, Sober AJ, Halpern AC, Weinstock MA, Daniels S, Miller DR, Demierre MF, Brooks DR, Gilchrest BA |title=The first 15 years of the American Academy of Dermatology skin cancer screening programs: 1985-1999 |journal=J. Am. Acad. Dermatol. |volume=48 |issue=1 |pages=34–41 |date=January 2003 |pmid=12522368 |doi=10.1067/mjd.2003.9 |url=}}</ref><br />
<br />
==References==<br />
{{Reflist|2}}<br />
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Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_risk_factors&diff=1543863
Merkel cell cancer risk factors
2019-01-31T02:28:00Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} {{AE}} {{AAM}}<br />
<br />
==Overview==<br />
Risk factors for the development of merkel cell cancer include old age, male gender, caucasian race, chronic exposure to [[sunlight]], [[immunodeficiency]], and personal history of [[cancer]].<br />
==Risk Factors==<br />
<br />
=== Common Risk Factors ===<br />
* Common risk factors in the development of merkel cell cancer may be occupational, environmental, genetic, and viral.<br />
<br />
* Common risk factors for the development of merkel cell cancer include:<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><ref name="pmid300858322">{{cite journal |vauthors=Schmerling RA, Casas JG, Cinat G, Ospina FEG, Kassuga LEBP, Tlahuel JLM, Mazzuoccolo LD |title=Burden of Disease, Early Diagnosis, and Treatment of Merkel Cell Carcinoma in Latin America |journal=J Glob Oncol |volume= |issue=4 |pages=1–11 |date=July 2018 |pmid=30085832 |pmc=6223512 |doi=10.1200/JGO.18.00041 |url=}}</ref><ref name="pmid25575645">{{cite journal |vauthors=Clarke CA, Robbins HA, Tatalovich Z, Lynch CF, Pawlish KS, Finch JL, Hernandez BY, Fraumeni JF, Madeleine MM, Engels EA |title=Risk of merkel cell carcinoma after solid organ transplantation |journal=J. Natl. Cancer Inst. |volume=107 |issue=2 |pages= |date=February 2015 |pmid=25575645 |pmc=4311175 |doi=10.1093/jnci/dju382 |url=}}</ref><br />
** [[Mutations]] in the [[DNA]] due to polyomaviruses <br />
** Chronic exposure to [[sunlight]]<br />
** [[Immunodeficiency]] or administration of [[Immunosuppressive therapy|immunosuppressive]] pharmacologic agents<br />
<br />
=== Less Common Risk Factors ===<br />
* Less common risk factors in the development of merkel cell cancer include:<ref name="pmid29102486">{{cite journal |vauthors=Paulson KG, Park SY, Vandeven NA, Lachance K, Thomas H, Chapuis AG, Harms KL, Thompson JA, Bhatia S, Stang A, Nghiem P |title=Merkel cell carcinoma: Current US incidence and projected increases based on changing demographics |journal=J. Am. Acad. Dermatol. |volume=78 |issue=3 |pages=457–463.e2 |date=March 2018 |pmid=29102486 |doi=10.1016/j.jaad.2017.10.028 |url=}}</ref><ref name="pmid19638070">{{cite journal |vauthors=Albores-Saavedra J, Batich K, Chable-Montero F, Sagy N, Schwartz AM, Henson DE |title=Merkel cell carcinoma demographics, morphology, and survival based on 3870 cases: a population based study |journal=J. Cutan. Pathol. |volume=37 |issue=1 |pages=20–7 |date=January 2010 |pmid=19638070 |doi=10.1111/j.1600-0560.2009.01370.x |url=}}</ref><ref name="pmid30085832">{{cite journal |vauthors=Schmerling RA, Casas JG, Cinat G, Ospina FEG, Kassuga LEBP, Tlahuel JLM, Mazzuoccolo LD |title=Burden of Disease, Early Diagnosis, and Treatment of Merkel Cell Carcinoma in Latin America |journal=J Glob Oncol |volume= |issue=4 |pages=1–11 |date=July 2018 |pmid=30085832 |pmc=6223512 |doi=10.1200/JGO.18.00041 |url=}}</ref><br />
** Old [[age]] > 70 years<br />
** Male gender<br />
** Fair skin<br />
** Personal history of [[cancers]]<br />
** Caucasian race<br />
<br />
<br />
<br />
==References==<br />
{{reflist|2}}<br />
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Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_epidemiology_and_demographics&diff=1543862
Merkel cell cancer epidemiology and demographics
2019-01-31T02:26:54Z
<p>Sargun Walia: /* Epidemiology and Demographics */</p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}} {{AAM}}<br />
<br />
==Overview==<br />
The incidence of merkel cell carcinoma ranges from 0.5 per 100,000 individuals. The [[median]] age at diagnosis is approximately 65 years. Merkel cell carcinoma is more common among males and individuals of the caucasian race.<br />
<br />
==Epidemiology and Demographics==<br />
===Incidence===<br />
* The [[incidence]] of merkel cell carcinoma ranges from 0.5 per 100,000 individuals.<ref name="pmid217113382">{{cite journal |vauthors=Girschik J, Thorn K, Beer TW, Heenan PJ, Fritschi L |title=Merkel cell carcinoma in Western Australia: a population-based study of incidence and survival |journal=Br. J. Dermatol. |volume=165 |issue=5 |pages=1051–7 |date=November 2011 |pmid=21711338 |doi=10.1111/j.1365-2133.2011.10493.x |url=}}</ref><ref name="pmid30194728">{{cite journal |vauthors=Kieny A, Cribier B, Meyer N, Velten M, Jégu J, Lipsker D |title=Epidemiology of Merkel cell carcinoma. A population-based study from 1985 to 2013, in northeastern of France |journal=Int. J. Cancer |volume=144 |issue=4 |pages=741–745 |date=February 2019 |pmid=30194728 |doi=10.1002/ijc.31860 |url=}}</ref><br />
*The [[incidence]] is thought to have tripled between 1986 and 2001.<br />
*According to the new research [[incidence]] rates are reportedly increasing in Australia and New Zealand.<ref name="pmid21711338">{{cite journal |vauthors=Girschik J, Thorn K, Beer TW, Heenan PJ, Fritschi L |title=Merkel cell carcinoma in Western Australia: a population-based study of incidence and survival |journal=Br. J. Dermatol. |volume=165 |issue=5 |pages=1051–7 |date=November 2011 |pmid=21711338 |doi=10.1111/j.1365-2133.2011.10493.x |url=}}</ref><ref name="pmid24943712">{{cite journal |vauthors=Youlden DR, Soyer HP, Youl PH, Fritschi L, Baade PD |title=Incidence and survival for Merkel cell carcinoma in Queensland, Australia, 1993-2010 |journal=JAMA Dermatol |volume=150 |issue=8 |pages=864–72 |date=August 2014 |pmid=24943712 |doi=10.1001/jamadermatol.2014.124 |url=}}</ref><br />
*<nowiki/>By 2020, the [[incidence]]<nowiki/> of merkel cell carcinoma was estimated to be 2835 cases in the United States.<ref name="pmid29102486">{{cite journal |vauthors=Paulson KG, Park SY, Vandeven NA, Lachance K, Thomas H, Chapuis AG, Harms KL, Thompson JA, Bhatia S, Stang A, Nghiem P |title=Merkel cell carcinoma: Current US incidence and projected increases based on changing demographics |journal=J. Am. Acad. Dermatol. |volume=78 |issue=3 |pages=457–463.e2 |date=March 2018 |pmid=29102486 |doi=10.1016/j.jaad.2017.10.028 |url=}}</ref><br />
* By 2035, the [[incidence]]<nowiki/> of merkel cell carcinoma was estimated to be 3284 cases in the United States.<ref name="pmid291024862">{{cite journal |vauthors=Paulson KG, Park SY, Vandeven NA, Lachance K, Thomas H, Chapuis AG, Harms KL, Thompson JA, Bhatia S, Stang A, Nghiem P |title=Merkel cell carcinoma: Current US incidence and projected increases based on changing demographics |journal=J. Am. Acad. Dermatol. |volume=78 |issue=3 |pages=457–463.e2 |date=March 2018 |pmid=29102486 |doi=10.1016/j.jaad.2017.10.028 |url=}}</ref> <br />
<br />
===Age===<br />
*Merkel cell carcinoma incidence increases progressively with age.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
*The majority of patients with merkel cell carcinoma are diagnosed at age > 50 years.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
*The [[median]] age at [[diagnosis]] is approximately 65 years.<ref name="cancergov">National Cancer Institute. Physician Data Query Database 2015. http://www.cancer.gov/publications/pdp</ref><br />
<br />
===Gender===<br />
*Merkel cell carcinoma<nowiki/> is slightly more common among males than females.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
<br />
===Race===<br />
*Merkel cell carcinoma is much more common among individuals of the caucasian race compared to individuals of other ethnicities.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
<br />
{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_epidemiology_and_demographics&diff=1543860
Merkel cell cancer epidemiology and demographics
2019-01-31T02:25:34Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}} {{AAM}}<br />
<br />
==Overview==<br />
The incidence of merkel cell carcinoma ranges from 0.5 per 100,000 individuals. The [[median]] age at diagnosis is approximately 65 years. Merkel cell carcinoma is more common among males and individuals of the caucasian race.<br />
<br />
==Epidemiology and Demographics==<br />
===Incidence===<br />
* The [[incidence]] of merkel cell carcinoma ranges from 0.5 per 100,000 individuals.<ref name="pmid217113382">{{cite journal |vauthors=Girschik J, Thorn K, Beer TW, Heenan PJ, Fritschi L |title=Merkel cell carcinoma in Western Australia: a population-based study of incidence and survival |journal=Br. J. Dermatol. |volume=165 |issue=5 |pages=1051–7 |date=November 2011 |pmid=21711338 |doi=10.1111/j.1365-2133.2011.10493.x |url=}}</ref><ref name="pmid30194728">{{cite journal |vauthors=Kieny A, Cribier B, Meyer N, Velten M, Jégu J, Lipsker D |title=Epidemiology of Merkel cell carcinoma. A population-based study from 1985 to 2013, in northeastern of France |journal=Int. J. Cancer |volume=144 |issue=4 |pages=741–745 |date=February 2019 |pmid=30194728 |doi=10.1002/ijc.31860 |url=}}</ref><br />
*The [[incidence]] is thought to have tripled between 1986 and 2001.<br />
*According to the new research [[incidence]] rates are reportedly increasing in Australia and New Zealand.<ref name="pmid21711338">{{cite journal |vauthors=Girschik J, Thorn K, Beer TW, Heenan PJ, Fritschi L |title=Merkel cell carcinoma in Western Australia: a population-based study of incidence and survival |journal=Br. J. Dermatol. |volume=165 |issue=5 |pages=1051–7 |date=November 2011 |pmid=21711338 |doi=10.1111/j.1365-2133.2011.10493.x |url=}}</ref><ref name="pmid24943712">{{cite journal |vauthors=Youlden DR, Soyer HP, Youl PH, Fritschi L, Baade PD |title=Incidence and survival for Merkel cell carcinoma in Queensland, Australia, 1993-2010 |journal=JAMA Dermatol |volume=150 |issue=8 |pages=864–72 |date=August 2014 |pmid=24943712 |doi=10.1001/jamadermatol.2014.124 |url=}}</ref><br />
*<nowiki/>By 2020, the [[incidence]]<nowiki/>of [[merkel cell carcinoma]] was estimated to be 2835 cases in the United States.<ref name="pmid29102486">{{cite journal |vauthors=Paulson KG, Park SY, Vandeven NA, Lachance K, Thomas H, Chapuis AG, Harms KL, Thompson JA, Bhatia S, Stang A, Nghiem P |title=Merkel cell carcinoma: Current US incidence and projected increases based on changing demographics |journal=J. Am. Acad. Dermatol. |volume=78 |issue=3 |pages=457–463.e2 |date=March 2018 |pmid=29102486 |doi=10.1016/j.jaad.2017.10.028 |url=}}</ref><br />
* By 2035, the [[incidence]]<nowiki/>of [[merkel cell carcinoma]] was estimated to be 3284 cases in the United States.<ref name="pmid291024862">{{cite journal |vauthors=Paulson KG, Park SY, Vandeven NA, Lachance K, Thomas H, Chapuis AG, Harms KL, Thompson JA, Bhatia S, Stang A, Nghiem P |title=Merkel cell carcinoma: Current US incidence and projected increases based on changing demographics |journal=J. Am. Acad. Dermatol. |volume=78 |issue=3 |pages=457–463.e2 |date=March 2018 |pmid=29102486 |doi=10.1016/j.jaad.2017.10.028 |url=}}</ref> <br />
<br />
===Age===<br />
*[[Merkel cell carcinoma]] incidence increases progressively with age.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
*The majority of patients with [[merkel cell carcinoma]] are diagnosed at age > 50 years.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
*The [[median]] age at [[diagnosis]] is approximately 65 years.<ref name="cancergov">National Cancer Institute. Physician Data Query Database 2015. http://www.cancer.gov/publications/pdp</ref><br />
<br />
===Gender===<br />
*[[Merkel cell carcinoma]]<nowiki/>r is slightly more common among males than females.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
<br />
===Race===<br />
*[[Merkel cell carcinoma]] is much more common among individuals of the Caucasian race compared to individuals of other ethnicities.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
<br />
{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_epidemiology_and_demographics&diff=1543859
Merkel cell cancer epidemiology and demographics
2019-01-31T02:24:25Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}} {{AAM}}<br />
<br />
==Overview==<br />
The incidence of merkel cell carcinoma ranges from 0.5 per 100,000 individuals. The [[median]] age at diagnosis is approximately 65 years. Merkel cell carcinoma is more common among males and individuals of the caucasian race.<br />
<br />
==Epidemiology and Demographics==<br />
===Incidence===<br />
* The [[incidence]] of [[merkel cell carcinoma]] ranges from 0.5 per 100,000 individuals.<ref name="pmid217113382">{{cite journal |vauthors=Girschik J, Thorn K, Beer TW, Heenan PJ, Fritschi L |title=Merkel cell carcinoma in Western Australia: a population-based study of incidence and survival |journal=Br. J. Dermatol. |volume=165 |issue=5 |pages=1051–7 |date=November 2011 |pmid=21711338 |doi=10.1111/j.1365-2133.2011.10493.x |url=}}</ref><ref name="pmid30194728">{{cite journal |vauthors=Kieny A, Cribier B, Meyer N, Velten M, Jégu J, Lipsker D |title=Epidemiology of Merkel cell carcinoma. A population-based study from 1985 to 2013, in northeastern of France |journal=Int. J. Cancer |volume=144 |issue=4 |pages=741–745 |date=February 2019 |pmid=30194728 |doi=10.1002/ijc.31860 |url=}}</ref><br />
*The [[incidence]] is thought to have tripled between 1986 and 2001.<br />
*According to the new research incidence rates are reportedly increasing in Australia and New Zealand.<ref name="pmid21711338">{{cite journal |vauthors=Girschik J, Thorn K, Beer TW, Heenan PJ, Fritschi L |title=Merkel cell carcinoma in Western Australia: a population-based study of incidence and survival |journal=Br. J. Dermatol. |volume=165 |issue=5 |pages=1051–7 |date=November 2011 |pmid=21711338 |doi=10.1111/j.1365-2133.2011.10493.x |url=}}</ref><ref name="pmid24943712">{{cite journal |vauthors=Youlden DR, Soyer HP, Youl PH, Fritschi L, Baade PD |title=Incidence and survival for Merkel cell carcinoma in Queensland, Australia, 1993-2010 |journal=JAMA Dermatol |volume=150 |issue=8 |pages=864–72 |date=August 2014 |pmid=24943712 |doi=10.1001/jamadermatol.2014.124 |url=}}</ref><br />
*<nowiki/>By 2020, the [[incidence]]<nowiki/>of [[merkel cell carcinoma]] was estimated to be 2835 cases in the United States.<ref name="pmid29102486">{{cite journal |vauthors=Paulson KG, Park SY, Vandeven NA, Lachance K, Thomas H, Chapuis AG, Harms KL, Thompson JA, Bhatia S, Stang A, Nghiem P |title=Merkel cell carcinoma: Current US incidence and projected increases based on changing demographics |journal=J. Am. Acad. Dermatol. |volume=78 |issue=3 |pages=457–463.e2 |date=March 2018 |pmid=29102486 |doi=10.1016/j.jaad.2017.10.028 |url=}}</ref><br />
* By 2035, the [[incidence]]<nowiki/>of [[merkel cell carcinoma]] was estimated to be 3284 cases in the United States.<ref name="pmid291024862">{{cite journal |vauthors=Paulson KG, Park SY, Vandeven NA, Lachance K, Thomas H, Chapuis AG, Harms KL, Thompson JA, Bhatia S, Stang A, Nghiem P |title=Merkel cell carcinoma: Current US incidence and projected increases based on changing demographics |journal=J. Am. Acad. Dermatol. |volume=78 |issue=3 |pages=457–463.e2 |date=March 2018 |pmid=29102486 |doi=10.1016/j.jaad.2017.10.028 |url=}}</ref> <br />
<br />
===Age===<br />
*[[Merkel cell carcinoma]] incidence increases progressively with age.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
*The majority of patients with [[merkel cell carcinoma]] are diagnosed at age > 50 years.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
*The median age at [[diagnosis]] is approximately 65 years.<ref name="cancergov">National Cancer Institute. Physician Data Query Database 2015. http://www.cancer.gov/publications/pdp</ref><br />
<br />
===Gender===<br />
*[[Merkel cell carcinoma]]<nowiki/>r is slightly more common among males than females.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
<br />
===Race===<br />
*[[Merkel cell carcinoma]] is much more common among individuals of the Caucasian race compared to individuals of other ethnicities.<ref name="pmid18280333">{{cite journal| author=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF et al.| title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features. | journal=J Am Acad Dermatol | year= 2008 | volume= 58 | issue= 3 | pages= 375-81 | pmid=18280333 | doi=10.1016/j.jaad.2007.11.020 | pmc=PMC2335370 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18280333 }} </ref><br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
<br />
{{WikiDoc Help Menu}}<br />
{{WikiDoc Sources}}<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_causes&diff=1543858
Merkel cell cancer causes
2019-01-31T02:22:52Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} ; {{AE}} {{VKG}}<br />
==Overview==<br />
Common causes of merkel cell carcinoma include [[merkel cell]] [[polyomavirus]], age, skin tone, exposure to [[sunlight]] and history of [[immunosuppression]].<br />
==Cause==<br />
=== Common Causes ===<br />
<br />
Common causes of [[merkel cell carcinoma]] may include:<ref name="pmid18280333">{{cite journal |vauthors=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF, Nghiem P |title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features |journal=J. Am. Acad. Dermatol. |volume=58 |issue=3 |pages=375–81 |date=March 2008 |pmid=18280333 |pmc=2335370 |doi=10.1016/j.jaad.2007.11.020 |url=}}</ref><ref name="Feng_2008">{{cite journal |doi=10.1126/science.1152586 |title=Clonal Integration of a Polyomavirus in Human Merkel Cell Carcinoma |year=2008 |last1=Feng |first1=H. |last2=Shuda |first2=M. |last3=Chang |first3=Y. |last4=Moore |first4=P. S. |journal=Science |volume=319 |pages=1096–100 |pmid=18202256 |issue=5866 |pmc=2740911}}</ref><br />
* [[Merkel cell]] [[polyomavirus]]<ref name="pmid19776382">{{cite journal |vauthors=Carter JJ, Paulson KG, Wipf GC, Miranda D, Madeleine MM, Johnson LG, Lemos BD, Lee S, Warcola AH, Iyer JG, Nghiem P, Galloway DA |title=Association of Merkel cell polyomavirus-specific antibodies with Merkel cell carcinoma |journal=J. Natl. Cancer Inst. |volume=101 |issue=21 |pages=1510–22 |date=November 2009 |pmid=19776382 |pmc=2773184 |doi=10.1093/jnci/djp332 |url=}}</ref> <br />
** Especially MCPvy<br />
* [[Sunlight]]<ref name="pmid10067813">{{cite journal |vauthors=Miller RW, Rabkin CS |title=Merkel cell carcinoma and melanoma: etiological similarities and differences |journal=Cancer Epidemiol. Biomarkers Prev. |volume=8 |issue=2 |pages=153–8 |date=February 1999 |pmid=10067813 |doi= |url=}}</ref><br />
** [[Ultraviolet radiation]] especially [[UVB radiation|UVB]] plays an important role in the developing [[merkel cell carcinoma]].<br />
* Skin tone<ref name="pmid145766612">{{cite journal |vauthors=Agelli M, Clegg LX |title=Epidemiology of primary Merkel cell carcinoma in the United States |journal=J. Am. Acad. Dermatol. |volume=49 |issue=5 |pages=832–41 |date=November 2003 |pmid=14576661 |doi=10.1067/S0190 |url=}}</ref><br />
** Fair skin people are more prone to [[merkel cell carcinoma]]. <br />
* [[Immunosuppression]]: Especially patients with <ref name="pmid25575645">{{cite journal |vauthors=Clarke CA, Robbins HA, Tatalovich Z, Lynch CF, Pawlish KS, Finch JL, Hernandez BY, Fraumeni JF, Madeleine MM, Engels EA |title=Risk of merkel cell carcinoma after solid organ transplantation |journal=J. Natl. Cancer Inst. |volume=107 |issue=2 |pages= |date=February 2015 |pmid=25575645 |pmc=4311175 |doi=10.1093/jnci/dju382 |url=}}</ref><ref name="pmid10609948">{{cite journal |vauthors=Penn I, First MR |title=Merkel's cell carcinoma in organ recipients: report of 41 cases |journal=Transplantation |volume=68 |issue=11 |pages=1717–21 |date=December 1999 |pmid=10609948 |doi= |url=}}</ref><ref name="pmid11853800">{{cite journal |vauthors=Engels EA, Frisch M, Goedert JJ, Biggar RJ, Miller RW |title=Merkel cell carcinoma and HIV infection |journal=Lancet |volume=359 |issue=9305 |pages=497–8 |date=February 2002 |pmid=11853800 |doi=10.1016/S0140-6736(02)07668-7 |url=}}</ref><ref name="pmid17651025">{{cite journal |vauthors=Manganoni MA, Farisoglio C, Tucci G, Venturini M, Marocolo D, Aquilano MC, El-Hamad I, Ferrari VD, Calzavara Pinton PG |title=Merkel cell carcinoma and HIV infection: a case report and review of the literature |journal=AIDS Patient Care STDS |volume=21 |issue=7 |pages=447–51 |date=July 2007 |pmid=17651025 |doi=10.1089/apc.2006.0152 |url=}}</ref><br />
** [[Human Immunodeficiency Virus (HIV)|HIV]] positive patients <br />
** [[Organ transplant]] patients<br />
** [[Chronic lymphocytic leukemia]] ([[Chronic lymphocytic leukemia|CLL]])<br />
** [[Lymphoproliferative disorders]]<br />
<br />
=== Less Common Causes ===<br />
Less common causes of [[merkel cell carcinoma]] include:<br />
* Age<br />
** The risk increases with the [[age]] and the median age is around 65 years or above. <br />
<br />
* Location in the body from decreasing order<br />
** Head > [[Upper limb]] > [[Lower Limb]] > and [[Trunk]]<br />
<br />
=== Genetic Causes ===<br />
* [[Merkel cell carcinoma]] is caused most commonly by mutation in <br />
** ''[[TP53]]'' gene [[mutations]]<br />
** [[Retinoblastoma]] (''[[RB1]]'') gene [[mutations]]<br />
<br />
<br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
[[Category:Disease]]<br />
[[Category:Types of cancer]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Dermatology]]<br />
[[Category:Surgery]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_pathophysiology&diff=1543857
Merkel cell cancer pathophysiology
2019-01-31T02:19:10Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
<br />
==Overview==<br />
Merkel cell carcinoma ([[MCC]]) is an unusual [[cutaneous]] [[malignancy]] of [[neuroendocrine]] origin.Merkel [[Nerve ending|nerve endings]] are [[mechanoreceptors]] in the skin.[[Merkel cells]] are normal components in the basal layer of the [[Epidermis (skin)|epidermis]] of the skin.<br />
<br />
==Pathophysiology==<br />
<br />
=== Physiology ===<br />
The normal physiology of [[merkel cells]] can be understood as follows:<ref name="HalataGrim2003">{{cite journal|last1=Halata|first1=Zdenek|last2=Grim|first2=Milos|last3=Bauman|first3=Klaus I.|title=Friedrich Sigmund Merkel and his ?Merkel cell?, morphology, development, and physiology: Review and new results|journal=The Anatomical Record|volume=271A|issue=1|year=2003|pages=225–239|issn=0003-276X|doi=10.1002/ar.a.10029}}</ref><br />
* [[Merkel nerve ending]] are large, pale cells which function as [[mechanoreceptors]] in the skin.<br />
* [[Merkel cells]] are usually derived from [[ectoderm]] and can be found in the [[mucosa]] and basal layer of the [[Epidermis (skin)|epidermis]] on the skin.<br />
* [[Neuropeptides]] which are an integral part of [[cytoskeletal]] [[filaments]] can be positive for [[merkel cells]].<br />
* Large population of [[merkel cells]] can be found in the nerve terminal.<br />
* The presence of [[merkel cells]] in the [[glabrous skin]] can be called as '''touch corpuscles''' and they function as [[mechanoreceptors]].<br />
<br />
=== Pathogenesis ===<br />
* It is understood that [[merkel cell cancer]] is the result caused by either [[merkel cell]] [[polyomavirus]], [[ultraviolet]] (UV), [[radiation exposure]] and [[immunosuppression]].<br />
<br />
==== '''Merkel cell polyomavirus''' ====<br />
* Out of 14 different strains of human polyomaviruses species, MCPyV([[merkel cell]] [[polyomavirus]]) is know to cause [[merkel cell carcinoma]] in approximately 80% of the patients.<ref name="pmid18202256">{{cite journal |vauthors=Feng H, Shuda M, Chang Y, Moore PS |title=Clonal integration of a polyomavirus in human Merkel cell carcinoma |journal=Science |volume=319 |issue=5866 |pages=1096–100 |date=February 2008 |pmid=18202256 |pmc=2740911 |doi=10.1126/science.1152586 |url=}}</ref><ref name="pmid19090778">{{cite journal |vauthors=Sharp CP, Norja P, Anthony I, Bell JE, Simmonds P |title=Reactivation and mutation of newly discovered WU, KI, and Merkel cell carcinoma polyomaviruses in immunosuppressed individuals |journal=J. Infect. Dis. |volume=199 |issue=3 |pages=398–404 |date=February 2009 |pmid=19090778 |doi=10.1086/596062 |url=}}</ref><ref name="pmid19776382">{{cite journal |vauthors=Carter JJ, Paulson KG, Wipf GC, Miranda D, Madeleine MM, Johnson LG, Lemos BD, Lee S, Warcola AH, Iyer JG, Nghiem P, Galloway DA |title=Association of Merkel cell polyomavirus-specific antibodies with Merkel cell carcinoma |journal=J. Natl. Cancer Inst. |volume=101 |issue=21 |pages=1510–22 |date=November 2009 |pmid=19776382 |pmc=2773184 |doi=10.1093/jnci/djp332 |url=}}</ref><br />
* Merkel cell polyomavirus belongs to [[DNA virus]] which has no [[Envelope (biology)|envelop]] and it is double stranded.<br />
* According to new research, specific [[Deletion (genetics)|deletion]] in the VP1 gene on MCPyV([[merkel cell]] [[polyomavirus]]) may lead to [[merkel cell carcinoma]].<ref name="pmid18593898">{{cite journal |vauthors=Kassem A, Schöpflin A, Diaz C, Weyers W, Stickeler E, Werner M, Zur Hausen A |title=Frequent detection of Merkel cell polyomavirus in human Merkel cell carcinomas and identification of a unique deletion in the VP1 gene |journal=Cancer Res. |volume=68 |issue=13 |pages=5009–13 |date=July 2008 |pmid=18593898 |doi=10.1158/0008-5472.CAN-08-0949 |url=}}</ref><br />
* [[Antigen|Large T antigen]] were found to be associated with MCPyV and development of [[merkel cell carcinoma]].<br />
* It is thought that MCPyV([[merkel cell]] [[polyomavirus]]) is a normal [[flora]] of the skin and sheds chronically.<ref name="pmid20542254">{{cite journal |vauthors=Schowalter RM, Pastrana DV, Pumphrey KA, Moyer AL, Buck CB |title=Merkel cell polyomavirus and two previously unknown polyomaviruses are chronically shed from human skin |journal=Cell Host Microbe |volume=7 |issue=6 |pages=509–15 |date=June 2010 |pmid=20542254 |pmc=2919322 |doi=10.1016/j.chom.2010.05.006 |url=}}</ref><br />
* Two major oncoproteins were encoded by MCPyV([[merkel cell]] [[polyomavirus]]):<br />
** Large tumor (LT) [[antigen]] <br />
** Small tumor (ST) [[antigen]]<br />
* Both large tumor (LT) [[antigen]] and small tumor (ST) [[antigen]] believed to be play a crucial role in the development of [[merkel cell carcinoma]].<br />
* MCPyV([[merkel cell]] [[polyomavirus]]) [[pathogenesis]] in sequential order:<br />
*# Integration of viral [[genome]] into the host [[genome]].<br />
*# Increased expression of small tumor (ST) antigen after integration.<br />
*# Gaining of [[mutations]] in the 3 end of large tumor (LT) antigen which results in the production of truncated molecule. <br />
*# And finally evade the [[immune response]] by the body. <br />
<br />
'''UV radiation'''<br />
* It is understood that [[merkel cell carcinoma]] is also caused by [[ultraviolet]] ([[Ultraviolet|UV]]) [[radiation]] exposure.<ref name="pmid18280333">{{cite journal |vauthors=Heath M, Jaimes N, Lemos B, Mostaghimi A, Wang LC, Peñas PF, Nghiem P |title=Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features |journal=J. Am. Acad. Dermatol. |volume=58 |issue=3 |pages=375–81 |date=March 2008 |pmid=18280333 |pmc=2335370 |doi=10.1016/j.jaad.2007.11.020 |url=}}</ref><ref name="pmid10067813">{{cite journal |vauthors=Miller RW, Rabkin CS |title=Merkel cell carcinoma and melanoma: etiological similarities and differences |journal=Cancer Epidemiol. Biomarkers Prev. |volume=8 |issue=2 |pages=153–8 |date=February 1999 |pmid=10067813 |doi= |url=}}</ref><br />
* Exposure to sun is one of the major source of [[ultraviolet]] ([[Ultraviolet|UV]]) [[radiation]] especially [[UVB]].<br />
* The risk of developing [[merkel cell carcinoma]] increases in fair skin individuals.<ref name="pmid14576661">{{cite journal |vauthors=Agelli M, Clegg LX |title=Epidemiology of primary Merkel cell carcinoma in the United States |journal=J. Am. Acad. Dermatol. |volume=49 |issue=5 |pages=832–41 |date=November 2003 |pmid=14576661 |doi=10.1067/S0190 |url=}}</ref><br />
* [[Incidence]] is directly proportional to [[sun exposure]] in developing [[merkel cell carcinoma]].<ref name="pmid21711338">{{cite journal |vauthors=Girschik J, Thorn K, Beer TW, Heenan PJ, Fritschi L |title=Merkel cell carcinoma in Western Australia: a population-based study of incidence and survival |journal=Br. J. Dermatol. |volume=165 |issue=5 |pages=1051–7 |date=November 2011 |pmid=21711338 |doi=10.1111/j.1365-2133.2011.10493.x |url=}}</ref><br />
* Patients who are undergoing [[PUVA]] therapy have an inceased risk of developing [[merkel cell carcinoma]].<br />
* The exact [[pathogenesis]] of how [[ultraviolet]] ([[Ultraviolet|UV]]) [[radiation]] exposure leads to [[merkel cell carcinoma]] is not completely understood.<br />
'''Immunosuppression''' <br />
* Patients who underwent [[organ transplant]] are also very prone to developing [[merkel cell carcinoma]] due to [[immunosuppression]].<br />
* Patients who are suffering with [[Human Immunodeficiency Virus (HIV)|HIV]] and [[malignancies]] especially [[B cell]] origin are also likely prone to develop [[merkel cell carcinoma]] due to [[immunosuppression]].<br />
* The exact [[pathogenesis]] of how [[immunosuppression]] leads to [[merkel cell carcinoma]] is not completely understood.<br />
* <br />
<br />
* <br />
<br />
* <br />
<br />
* <br />
<br />
* <br />
<br />
==Genetics==<br />
[[Genes]] involved in the pathogenesis of [[merkel cell carcinoma]] include:<br />
* ''[[TP53]]'' gene [[mutations]]<br />
* [[Retinoblastoma]] (''[[RB1]]'') gene [[mutations]]<br />
* [[NOTCH1]]<br />
* [[PRUNE2]]<br />
* [[HRAS]]<br />
* PIK3CA<br />
* KNSTRN<br />
* [[PREX2]]<br />
* [[RAC1]]<br />
==Gross Pathology==<br />
On [[gross pathology]] of [[merkel cell carcinoma]]<br />
[[File:Merkel cell carcinoma gross pathology.jpg|alt=Merkel cell carcinoma gross pathology|center|thumb|Merkel cell carcinoma gross pathology<nowiki/>https://commons.wikimedia.org/wiki/File:Merkel_Cell_Carcinoma_buttock_45-year-old_woman.jpg#/media/File:Merkel_Cell_Carcinoma_buttock_45-year-old_woman.jpg]]<br />
<br />
==Microscopic Pathology==<br />
On microscopic [[histopathological]] analysis, [[Trabecula|trabecular]] pattern, monotonous round [[Tumor cell|tumor cells]], [[mitotic]] figures, atypical [[fibroxanthoma]]-like areas and dusty [[chromatin]] are characteristic findings of [[merkel cell carcinoma]].<br />
[[File:Merkel cell carcinoma.jpg|alt=Merkel cell carcinoma|center|thumb|Merkel cell carcinoma<nowiki/>https://commons.wikimedia.org/wiki/File:Merkel_cell_carcinoma_-_very_high_mag.jpg#/media/File:Merkel_cell_carcinoma_-_very_high_mag.jpg]]<br />
<br />
==References==<br />
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{{Reflist|2}}<br />
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Sargun Walia
https://www.wikidoc.org/index.php?title=Merkel_cell_cancer_historical_perspective&diff=1543855
Merkel cell cancer historical perspective
2019-01-31T02:12:20Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Merkel cell cancer}}<br />
{{CMG}} {{AE}} {{VKG}} {{AAM}}<br />
<br />
==Overview==<br />
[[Merkel cell]] was first discovered by Freidrich Sigmund Merkel and also mentioned by Cyril Toker, in 1972. <br />
<br />
==Historical Perspective==<br />
<br />
=== Discovery ===<br />
* [[Merkel cell]] was first discovered by Freidrich Sigmund Merkel, a German histopathologist, in 1875.<ref name="pmid23217622">{{cite journal| author=Spurgeon ME, Lambert PF| title=Merkel cell polyomavirus: a newly discovered human virus with oncogenic potential. | journal=Virology | year= 2013 | volume= 435 | issue= 1 | pages= 118-30 | pmid=23217622 | doi=10.1016/j.virol.2012.09.029 | pmc=PMC3522868 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23217622 }} </ref><ref name="pmid12552639">{{cite journal |vauthors=Halata Z, Grim M, Bauman KI |title=Friedrich Sigmund Merkel and his "Merkel cell", morphology, development, and physiology: review and new results |journal=Anat Rec A Discov Mol Cell Evol Biol |volume=271 |issue=1 |pages=225–39 |date=March 2003 |pmid=12552639 |doi=10.1002/ar.a.10029 |url=}}</ref><br />
* Merkel cell carcinoma was first discovered by Cyril Toker, in 1972.<ref name="pmid16466578">{{cite journal |vauthors=Koljonen V |title=Merkel cell carcinoma |journal=World J Surg Oncol |volume=4 |issue= |pages=7 |date=February 2006 |pmid=16466578 |pmc=1382229 |doi=10.1186/1477-7819-4-7 |url=}}</ref><br />
[[File:Friedrich Merkel.jpg|alt=Friedrich Merkel|center|thumb|Freidrich Sigmund Merkel - By Peter Matzen - Voit Collection, Public Domain, <nowiki>https://commons.wikimedia.org/w/index.php?curid=6919744</nowiki>]]<br />
<br />
==Famous Cases ==<br />
* Avigdor Arikha – Paris-based painter and art historian<br />
* David Brudnoy – Boston talk radio host<br />
* Stan Collender - Executive vice president at MSLGROUP, a global communications agency.<br />
* Al Copeland – New Orleans entrepreneur, powerboat racer.<br />
* Al Davis – Principal owner of the Oakland Raiders of the National Football League.<br />
* Ed Derwinski – U.S. Representative from Illinois and 1st United States Secretary of Veterans Affairs|Secretary of Veterans Affairs.<br />
* Leonard Hirshan – longtime manager of Clint Eastwood who also counted Edward G. Robinson, Greer Garson, Sophia Loren, Angela Lansbury, Sammy Davis Jr. and Bruce Beresford among his clients over the course of his six-decade career as an agent and manager, died January 31, 2014 in Beverly Hills of Merkel-cell carcinoma.<br />
*Max Perutz – Nobel Prize–winning chemist<br />
*Lindsay Thompson – Former Premier of Victoria, Australia<br />
*Edward Utley – President of Geico<br />
*Joe Zawinul – Jazz-fusion pioneer<br />
*John Fitch – Famous race car driver and road safety pioneer<br />
*Carl Mundy – 30th Commandant of the United States Marine Corps<br />
*Geoffrey Penwill Parsons AO OBE (15 June 1929 – 26 January 1995), the Australian accompanist to singers and instrumentalists, considered one of the world's finest and most sympathetic accompanist of lieder singers.<br />
<br />
==References==<br />
{{reflist|2}}<br />
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Sargun Walia
https://www.wikidoc.org/index.php?title=Mucoepidermoid_carcinoma_historical_perspective&diff=1542923
Mucoepidermoid carcinoma historical perspective
2019-01-29T16:47:08Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Mucoepidermoid carcinoma}}<br />
{{CMG}}{{AE}}{{MV}}<br />
<br />
==Overview==<br />
Mucoepidermoid carcinoma was first described by Masson and Berger, two American [[pathologist]]s, in 1924.<br />
<br />
==Historical Perspective==<br />
*In 1802, the first surgical excision of a [[Parotid cancer|parotid tumor]] was performed by Bertrandi.<br />
* in 1895, Volkmann described mucoepidermoid carcinoma as the most common [[malignant]] epithelial tumour of the [[Salivary gland|salivary glands]].<ref name="pmid17858687">{{cite journal |vauthors=Stewart FW, Foote FW, Becker WF |title=Muco-Epidermoid Tumors of Salivary Glands |journal=Ann. Surg. |volume=122 |issue=5 |pages=820–44 |date=November 1945 |pmid=17858687 |pmc=1618293 |doi= |url=}}</ref><br />
* In 1924, mucoepidermoid carcinoma was described by Mason and Berger.<ref name="WoolnerPettet1954">{{cite journal|last1=Woolner|first1=Lewis B.|last2=Pettet|first2=John R.|last3=Kirklin|first3=John W.|title=Mucoepidermoid Tumors of Major Salivary Glands|journal=American Journal of Clinical Pathology|volume=24|issue=12|year=1954|pages=1350–1362|issn=0002-9173|doi=10.1093/ajcp/24.12.1350}}</ref><br />
* In 1945, Stewart and his associates, recognized mucoepidermoid of the [[salivary gland]] as a separate [[neoplasm]] and described its [[histopathology]].<ref name="WoolnerPettet1954">{{cite journal|last1=Woolner|first1=Lewis B.|last2=Pettet|first2=John R.|last3=Kirklin|first3=John W.|title=Mucoepidermoid Tumors of Major Salivary Glands|journal=American Journal of Clinical Pathology|volume=24|issue=12|year=1954|pages=1350–1362|issn=0002-9173|doi=10.1093/ajcp/24.12.1350}}</ref><br />
*In 1958, Beahrs and Adson first described the surgical technique for [[Parotid gland|parotid]] surgery.<br />
==References==<br />
{{reflist|2}}<br />
<br />
{{WH}}<br />
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Sargun Walia
https://www.wikidoc.org/index.php?title=Mucoepidermoid_carcinoma_historical_perspective&diff=1542919
Mucoepidermoid carcinoma historical perspective
2019-01-29T16:43:56Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Mucoepidermoid carcinoma}}<br />
{{CMG}}{{AE}}{{MV}}<br />
<br />
==Overview==<br />
Mucoepidermoid carcinoma was first described by Masson and Berger, two American [[pathologist]]s, in 1924.<br />
<br />
==Historical Perspective==<br />
*In 1802, the first surgical excision of a parotid tumor was performed by Bertrandi.<br />
* in 1895, Volkmann described mucoepidermoid carcinoma as the most common malignant epithelial tumour of the salivary glands.<ref name="pmid17858687">{{cite journal |vauthors=Stewart FW, Foote FW, Becker WF |title=Muco-Epidermoid Tumors of Salivary Glands |journal=Ann. Surg. |volume=122 |issue=5 |pages=820–44 |date=November 1945 |pmid=17858687 |pmc=1618293 |doi= |url=}}</ref><br />
* In 1924, mucoepidermoid carcinoma was described by Mason and Berger.<ref name="WoolnerPettet1954">{{cite journal|last1=Woolner|first1=Lewis B.|last2=Pettet|first2=John R.|last3=Kirklin|first3=John W.|title=Mucoepidermoid Tumors of Major Salivary Glands|journal=American Journal of Clinical Pathology|volume=24|issue=12|year=1954|pages=1350–1362|issn=0002-9173|doi=10.1093/ajcp/24.12.1350}}</ref><br />
* In 1945, Stewart and his associates, recognized mucoepidermoid of the salivary gland as a separate neoplasm and described its histopathology.<ref name="WoolnerPettet1954">{{cite journal|last1=Woolner|first1=Lewis B.|last2=Pettet|first2=John R.|last3=Kirklin|first3=John W.|title=Mucoepidermoid Tumors of Major Salivary Glands|journal=American Journal of Clinical Pathology|volume=24|issue=12|year=1954|pages=1350–1362|issn=0002-9173|doi=10.1093/ajcp/24.12.1350}}</ref><br />
*In 1958, Beahrs and Adson first described the surgical technique for parotid surgery.<br />
==References==<br />
{{reflist|2}}<br />
<br />
{{WH}}<br />
{{WS}}<br />
<br />
[[Category:Disease]]<br />
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Sargun Walia
https://www.wikidoc.org/index.php?title=Anaplastic_large_cell_lymphoma_classification&diff=1535763
Anaplastic large cell lymphoma classification
2019-01-14T22:51:43Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Anaplastic large cell lymphoma}}<br />
{{CMG}}; {{AE}} {{AS}}, {{kakbar}}<br />
==Overview==<br />
<br />
Anaplastic large cell lymphoma may be classified into several subtypes based on immunophenotype, clinical presentation, and histology.<br />
<br />
==Classification==<br />
* Anaplastic large cell lymphoma (peripheral T-cell lymphoma [[Non-Hodgkin Lymphoma]]) may be classified into 2 subtypes: <ref name="pmid29617304">{{cite journal| author=Montes-Mojarro IA, Steinhilber J, Bonzheim I, Quintanilla-Martinez L, Fend F| title=The Pathological Spectrum of Systemic Anaplastic Large Cell Lymphoma (ALCL). | journal=Cancers (Basel) | year= 2018 | volume= 10 | issue= 4 | pages= | pmid=29617304 | doi=10.3390/cancers10040107 | pmc=5923362 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29617304 }} </ref><br />
:*[[Anaplastic large cell lymphoma, ALK positive]]<br />
:*[[Anaplastic large cell lymphoma, ALK negative]]<br />
* Based on clinical presentations, anaplastic large cell lymphoma may be classified into 3 subtypes:<br />
:* Primary cutaneous anaplastic large cell lymphoma<br />
:* Primary systemic anaplastic large cell lymphoma<br />
::* Nodal anaplastic large cell lymphoma<br />
::* Extra nodal anaplastic large cell lymphoma <br />
:* Implant associated anaplastic large cell lymphoma <br />
* Based on histology, anaplastic large cell lymphoma may be classified into 3 subtypes:<ref name="pmid26104084">{{cite journal| author=Zeng Y, Feldman AL| title=Genetics of anaplastic large cell lymphoma. | journal=Leuk Lymphoma | year= 2016 | volume= 57 | issue= 1 | pages= 21-7 | pmid=26104084 | doi=10.3109/10428194.2015.1064530 | pmc=4732699 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26104084 }} </ref><br />
:* Classical Variants<br />
:* Atypical Variants<br />
:* Rare Variants<br />
<br />
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"<br />
|+ '''Classification based on the clinical presentation'''<br />
! style="background: #4479BA;; color:#FFF;" | Name<br />
! style="background: #4479BA;; color:#FFF;" | Description<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | '''Primary cutaneous anaplastic large cell lymphoma'''<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* Confined to the skin<br />
* Usually a single lump or tumor in the skin.<br />
* May also spread to lymph nodes in the area.<br />
* Associated with a rare skin condition called [[lymphomatoid papulosis]].<br />
* Less aggressive than primary systemic anaplastic large cell lymphoma.<br />
* Occasionally individuals have a spontaneous remission.<br />
* Fairly good prognosis. <br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | '''Primary systemic anaplastic large cell lymphoma'''<br />
| style="padding: 5px 5px; background: #F5F5F5;" |<br />
* Usually involves the lymph nodes.<br />
* Can also occur in organs or tissues other than the lymph nodes (extranodal sites), including: lungs, liver, bone marrow, bone, gastrointestinal tract, skin, and soft tissue.<br />
* Most individuals have advanced stage (stage III or IV) disease when they are diagnosed.<br />
* Usually a fast-growing (aggressive) lymphoma<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | '''Implant associated anaplastic large cell lymphoma''' <br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* The tumor initially manifests with swelling of the breast due to fluid accumulation around the implant.<br />
* May progress to invade the tissue surrounding the capsule, and if left untreated may progress to axillary lymph nodes<ref>Miranda RN, Aladily TN, Prince HM, Kanagal-Shamanna R, de Jong D, Fayad LE,Amin MB, Haideri N, Bhagat G, Brooks GS, Shifrin DA, O'Malley DP, Cheah CY, Bacchi CE, Gualco G, Li S, Keech JA Jr, Hochberg EP, Carty MJ, Hanson SE, Mustafa E, Sanchez S, Manning JT Jr, Xu-Monette ZY, Miranda AR, Fox P, Bassett RL, Castillo JJ, Beltran BE, de Boer JP, Chakhachiro Z, Ye D, Clark D, Young KH, Medeiros LJ. Breast implant-associated anaplastic large-cell lymphoma: long-term follow-up of 60 patients. J Clin Oncol. 2014 Jan 10;32(2):114-20.</ref><br />
|}<br />
<br />
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"<br />
<br />
|+ '''Histologic Classification''' <ref name="Swerdlow">{{cite book | last = Swerdlow | first = Steven | title = WHO classification of tumours of haematopoietic and lymphoid tissues | publisher = International Agency for Research on Cancer | location = Lyon, France | year = 2008 | isbn = 9789283224310 }}</ref> <br />
! style="background: #4479BA;; color:#FFF;" | Name<br />
! style="background: #4479BA;; color:#FFF;" | Description<br />
|-<br />
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" | '''Classical Variants'''<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | '''Common pattern'''<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* ALK positive anaplastic large cell lymphoma<br />
* Most common morphological variant (75%)<ref name="pmid9736036">{{cite journal| author=Falini B, Bigerna B, Fizzotti M, Pulford K, Pileri SA, Delsol G et al.| title=ALK expression defines a distinct group of T/null lymphomas ("ALK lymphomas") with a wide morphological spectrum. | journal=Am J Pathol | year= 1998 | volume= 153 | issue= 3 | pages= 875-86 | pmid=9736036 | doi=10.1016/S0002-9440(10)65629-5 | pmc=PMC1853018 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9736036 }}</ref><br />
* In large cells, nucleoli tend to be more prominent. <br />
* The cytoplasm may be either [[basophilic]] or [[eosinophilic]] and the cell may have many nuclei with dispersed or clumped [[chromatin]]. <br />
* Given that the lymphomatous cells grow in the lymph node's sinuses, this variant may ressemble a metastatic tumo.r<br />
|-<br />
| colspan="6" style="padding: 5px 5px; background: #DCDCDC;" | '''Atypical Variants'''<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | '''Small cell'''<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* ALK positive anaplastic large cell lymphoma<br />
* Cells have nuclear irregularity and perivascular/intravascular distribution.<ref name="pmid8394652">{{cite journal| author=Kinney MC, Collins RD, Greer JP, Whitlock JA, Sioutos N, Kadin ME| title=A small-cell-predominant variant of primary Ki-1 (CD30)+ T-cell lymphoma. | journal=Am J Surg Pathol | year= 1993 | volume= 17 | issue= 9 | pages= 859-68 | pmid=8394652 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8394652 }}</ref> <br />
* Occasionally, lymphomatous cells have a pale cytoplasm with a central nucleus, described as "fried egg cell".<ref name="Swerdlow">{{cite book | last = Swerdlow | first = Steven | title = WHO classification of tumours of haematopoietic and lymphoid tissues | publisher = International Agency for Research on Cancer | location = Lyon, France | year = 2008 | isbn = 9789283224310 }}</ref><br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | '''Lymphohistiocytic'''<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* ALK positive anaplastic large cell lymphoma<br />
* [[Histiocytes]] have an [[acidophilic]] cytoplasm and a perinuclear clear area, with an eccentric nuclei and condensed chromatin.<ref>{{cite web|url=http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1858171/pdf/amjpathol00028-0072.pdf|title=<br />
Frequent Expression ofthe NPM-ALK Chimeric Fusion Protein inAnaplastic Large-Cell Lymphoma, Lympho-Histiocytic Type}}</ref> <br />
* Lymphomatous cells cluster around the perivascular area as demonstrated by immunostaining with [[CD30]] and ALK antibodies.<ref name="Swerdlow">{{cite book | last = Swerdlow | first = Steven | title = WHO classification of tumours of haematopoietic and lymphoid tissues | publisher = International Agency for Research on Cancer | location = Lyon, France | year = 2008 | isbn = 9789283224310 }}</ref><br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | '''Giant cell'''<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* ALK positive anaplastic large cell lymphoma<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | '''Hodgkin's like'''<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* The morphological characteristics of this pattern are similar to the nodular sclerosis variant of [[Hodgkin's lymphoma]].<ref name="pmid16434897">{{cite journal| author=Vassallo J, Lamant L, Brugieres L, Gaillard F, Campo E, Brousset P et al.| title=ALK-positive anaplastic large cell lymphoma mimicking nodular sclerosis Hodgkin's lymphoma: report of 10 cases. | journal=Am J Surg Pathol | year= 2006 | volume= 30 | issue= 2 | pages= 223-9 | pmid=16434897 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16434897 }}</ref> <br />
* This pattern is predominately more common among females.<br />
* There are two immunophenotypes:<ref name="pmid16434897">{{cite journal| author=Vassallo J, Lamant L, Brugieres L, Gaillard F, Campo E, Brousset P et al.| title=ALK-positive anaplastic large cell lymphoma mimicking nodular sclerosis Hodgkin's lymphoma: report of 10 cases. | journal=Am J Surg Pathol | year= 2006 | volume= 30 | issue= 2 | pages= 223-9 | pmid=16434897 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16434897 }}</ref><ref name="pmid26104084">{{cite journal| author=Zeng Y, Feldman AL| title=Genetics of anaplastic large cell lymphoma. | journal=Leuk Lymphoma | year= 2016 | volume= 57 | issue= 1 | pages= 21-7 | pmid=26104084 | doi=10.3109/10428194.2015.1064530 | pmc=4732699 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26104084 }} </ref><br />
**Positive: [[CD30]], ALK, epithelial membrane antigen (EMA), [[CD43]] (only 66% of the times), and [[perforin]]<br />
**Negative: [[CD15]], [[CD20]], Pax5/BSAP, and [[EBV]]<br />
|-<br />
| colspan="6" style="padding: 5px 5px; background: #DCDCDC;" | '''Rare Variants'''<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | '''Sarcomatoid'''<br />
| style="padding: 5px 5px; background: #F5F5F5;" |<br />
* ALK positive anaplastic large cell lymphoma<br />
|}<br />
<br />
==References==<br />
{{Reflist|2}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Disease]]<br />
[[Category:Pathology]]<br />
[[Category:Hematology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Hematology]]<br />
[[Category:Immunology]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Anaplastic_large_cell_lymphoma_classification&diff=1535762
Anaplastic large cell lymphoma classification
2019-01-14T22:50:45Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Anaplastic large cell lymphoma}}<br />
{{CMG}}; {{AE}} {{AS}}, {{kakbar}}<br />
==Overview==<br />
<br />
Anaplastic large cell lymphoma may be classified into several subtypes based on immunophenotype, clinical presentation, and histology.<br />
<br />
==Classification==<br />
* Anaplastic large cell lymphoma (peripheral T-cell lymphoma [[Non-Hodgkin Lymphoma]]) may be classified into 2 subtypes: <ref name="pmid29617304">{{cite journal| author=Montes-Mojarro IA, Steinhilber J, Bonzheim I, Quintanilla-Martinez L, Fend F| title=The Pathological Spectrum of Systemic Anaplastic Large Cell Lymphoma (ALCL). | journal=Cancers (Basel) | year= 2018 | volume= 10 | issue= 4 | pages= | pmid=29617304 | doi=10.3390/cancers10040107 | pmc=5923362 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29617304 }} </ref><br />
:*[[Anaplastic large cell lymphoma, ALK positive]]<br />
:*[[Anaplastic large cell lymphoma, ALK negative]]<br />
* Based on clinical presentations, anaplastic large cell lymphoma may be classified into 3 subtypes:<br />
:* Primary cutaneous anaplastic large cell lymphoma<br />
:* Primary systemic anaplastic large cell lymphoma<br />
::* Nodal anaplastic large cell lymphoma<br />
::* Extra nodal anaplastic large cell lymphoma <br />
:* Implant associated anaplastic large cell lymphoma <br />
* Based on histology, anaplastic large cell lymphoma may be classified into 3 subtypes:<ref name="pmid26104084">{{cite journal| author=Zeng Y, Feldman AL| title=Genetics of anaplastic large cell lymphoma. | journal=Leuk Lymphoma | year= 2016 | volume= 57 | issue= 1 | pages= 21-7 | pmid=26104084 | doi=10.3109/10428194.2015.1064530 | pmc=4732699 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26104084 }} </ref><br />
:* Classical Variants<br />
:* Atypical Variants<br />
:* Rare Variants<br />
<br />
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"<br />
|+ '''Classification based on the clinical presentation'''<br />
! style="background: #4479BA;; color:#FFF;" | Name<br />
! style="background: #4479BA;; color:#FFF;" | Description<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | '''Primary cutaneous anaplastic large cell lymphoma'''<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* Confined to the skin<br />
* Usually a single lump or tumor in the skin.<br />
* May also spread to lymph nodes in the area.<br />
* Associated with a rare skin condition called [[lymphomatoid papulosis]].<br />
* Less aggressive than primary systemic anaplastic large cell lymphoma.<br />
* Occasionally individuals have a spontaneous remission.<br />
* Fairly good prognosis. <br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | '''Primary systemic anaplastic large cell lymphoma'''<br />
| style="padding: 5px 5px; background: #F5F5F5;" |<br />
* Usually involves the lymph nodes.<br />
* Can also occur in organs or tissues other than the lymph nodes (extranodal sites), including: lungs, liver, bone marrow, bone, gastrointestinal tract, skin, and soft tissue.<br />
* Most individuals have advanced stage (stage III or IV) disease when they are diagnosed.<br />
* Usually a fast-growing (aggressive) lymphoma<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | '''Implant associated anaplastic large cell lymphoma''' <br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* The tumor initially manifests with swelling of the breast due to fluid accumulation around the implant.<br />
* May progress to invade the tissue surrounding the capsule, and if left untreated may progress to axillary lymph nodes<ref>Miranda RN, Aladily TN, Prince HM, Kanagal-Shamanna R, de Jong D, Fayad LE,Amin MB, Haideri N, Bhagat G, Brooks GS, Shifrin DA, O'Malley DP, Cheah CY, Bacchi CE, Gualco G, Li S, Keech JA Jr, Hochberg EP, Carty MJ, Hanson SE, Mustafa E, Sanchez S, Manning JT Jr, Xu-Monette ZY, Miranda AR, Fox P, Bassett RL, Castillo JJ, Beltran BE, de Boer JP, Chakhachiro Z, Ye D, Clark D, Young KH, Medeiros LJ. Breast implant-associated anaplastic large-cell lymphoma: long-term follow-up of 60 patients. J Clin Oncol. 2014 Jan 10;32(2):114-20.</ref><br />
|}<br />
<br />
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"<br />
<br />
|+ '''Histologic Classification''' <ref name="Swerdlow">{{cite book | last = Swerdlow | first = Steven | title = WHO classification of tumours of haematopoietic and lymphoid tissues | publisher = International Agency for Research on Cancer | location = Lyon, France | year = 2008 | isbn = 9789283224310 }}</ref> <br />
! style="background: #4479BA;; color:#FFF;" | Name<br />
! style="background: #4479BA;; color:#FFF;" | Description<br />
|-<br />
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" | '''Classical Variants'''<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Common pattern<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* ALK positive anaplastic large cell lymphoma<br />
* Most common morphological variant (75%)<ref name="pmid9736036">{{cite journal| author=Falini B, Bigerna B, Fizzotti M, Pulford K, Pileri SA, Delsol G et al.| title=ALK expression defines a distinct group of T/null lymphomas ("ALK lymphomas") with a wide morphological spectrum. | journal=Am J Pathol | year= 1998 | volume= 153 | issue= 3 | pages= 875-86 | pmid=9736036 | doi=10.1016/S0002-9440(10)65629-5 | pmc=PMC1853018 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9736036 }}</ref><br />
* In large cells, nucleoli tend to be more prominent. <br />
* The cytoplasm may be either [[basophilic]] or [[eosinophilic]] and the cell may have many nuclei with dispersed or clumped [[chromatin]]. <br />
* Given that the lymphomatous cells grow in the lymph node's sinuses, this variant may ressemble a metastatic tumo.r<br />
|-<br />
| colspan="6" style="padding: 5px 5px; background: #DCDCDC;" | '''Atypical Variants'''<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Small cell<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* ALK positive anaplastic large cell lymphoma<br />
* Cells have nuclear irregularity and perivascular/intravascular distribution.<ref name="pmid8394652">{{cite journal| author=Kinney MC, Collins RD, Greer JP, Whitlock JA, Sioutos N, Kadin ME| title=A small-cell-predominant variant of primary Ki-1 (CD30)+ T-cell lymphoma. | journal=Am J Surg Pathol | year= 1993 | volume= 17 | issue= 9 | pages= 859-68 | pmid=8394652 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8394652 }}</ref> <br />
* Occasionally, lymphomatous cells have a pale cytoplasm with a central nucleus, described as "fried egg cell".<ref name="Swerdlow">{{cite book | last = Swerdlow | first = Steven | title = WHO classification of tumours of haematopoietic and lymphoid tissues | publisher = International Agency for Research on Cancer | location = Lyon, France | year = 2008 | isbn = 9789283224310 }}</ref><br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Lymphohistiocytic<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* ALK positive anaplastic large cell lymphoma<br />
* [[Histiocytes]] have an [[acidophilic]] cytoplasm and a perinuclear clear area, with an eccentric nuclei and condensed chromatin.<ref>{{cite web|url=http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1858171/pdf/amjpathol00028-0072.pdf|title=<br />
Frequent Expression ofthe NPM-ALK Chimeric Fusion Protein inAnaplastic Large-Cell Lymphoma, Lympho-Histiocytic Type}}</ref> <br />
* Lymphomatous cells cluster around the perivascular area as demonstrated by immunostaining with [[CD30]] and ALK antibodies.<ref name="Swerdlow">{{cite book | last = Swerdlow | first = Steven | title = WHO classification of tumours of haematopoietic and lymphoid tissues | publisher = International Agency for Research on Cancer | location = Lyon, France | year = 2008 | isbn = 9789283224310 }}</ref><br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Giant cell<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* ALK positive anaplastic large cell lymphoma<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Hodgkin's like<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* The morphological characteristics of this pattern are similar to the nodular sclerosis variant of [[Hodgkin's lymphoma]].<ref name="pmid16434897">{{cite journal| author=Vassallo J, Lamant L, Brugieres L, Gaillard F, Campo E, Brousset P et al.| title=ALK-positive anaplastic large cell lymphoma mimicking nodular sclerosis Hodgkin's lymphoma: report of 10 cases. | journal=Am J Surg Pathol | year= 2006 | volume= 30 | issue= 2 | pages= 223-9 | pmid=16434897 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16434897 }}</ref> <br />
* This pattern is predominately more common among females.<br />
* There are two immunophenotypes:<ref name="pmid16434897">{{cite journal| author=Vassallo J, Lamant L, Brugieres L, Gaillard F, Campo E, Brousset P et al.| title=ALK-positive anaplastic large cell lymphoma mimicking nodular sclerosis Hodgkin's lymphoma: report of 10 cases. | journal=Am J Surg Pathol | year= 2006 | volume= 30 | issue= 2 | pages= 223-9 | pmid=16434897 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16434897 }}</ref><ref name="pmid26104084">{{cite journal| author=Zeng Y, Feldman AL| title=Genetics of anaplastic large cell lymphoma. | journal=Leuk Lymphoma | year= 2016 | volume= 57 | issue= 1 | pages= 21-7 | pmid=26104084 | doi=10.3109/10428194.2015.1064530 | pmc=4732699 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26104084 }} </ref><br />
**Positive: [[CD30]], ALK, epithelial membrane antigen (EMA), [[CD43]] (only 66% of the times), and [[perforin]]<br />
**Negative: [[CD15]], [[CD20]], Pax5/BSAP, and [[EBV]]<br />
|-<br />
| colspan="6" style="padding: 5px 5px; background: #DCDCDC;" | '''Rare Variants'''<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Sarcomatoid<br />
| style="padding: 5px 5px; background: #F5F5F5;" |<br />
* ALK positive anaplastic large cell lymphoma<br />
|}<br />
<br />
==References==<br />
{{Reflist|2}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Disease]]<br />
[[Category:Pathology]]<br />
[[Category:Hematology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Hematology]]<br />
[[Category:Immunology]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Anaplastic_large_cell_lymphoma_classification&diff=1535760
Anaplastic large cell lymphoma classification
2019-01-14T22:49:43Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Anaplastic large cell lymphoma}}<br />
{{CMG}}; {{AE}} {{AS}}, {{kakbar}}<br />
==Overview==<br />
<br />
Anaplastic large cell lymphoma may be classified into several subtypes based on immunophenotype, clinical presentation, and histology.<br />
<br />
==Classification==<br />
* Anaplastic large cell lymphoma (peripheral T-cell lymphoma [[Non-Hodgkin Lymphoma]]) may be classified into 2 subtypes: <ref name="pmid29617304">{{cite journal| author=Montes-Mojarro IA, Steinhilber J, Bonzheim I, Quintanilla-Martinez L, Fend F| title=The Pathological Spectrum of Systemic Anaplastic Large Cell Lymphoma (ALCL). | journal=Cancers (Basel) | year= 2018 | volume= 10 | issue= 4 | pages= | pmid=29617304 | doi=10.3390/cancers10040107 | pmc=5923362 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29617304 }} </ref><br />
:*[[Anaplastic large cell lymphoma, ALK positive]]<br />
:*[[Anaplastic large cell lymphoma, ALK negative]]<br />
* Based on clinical presentations, anaplastic large cell lymphoma may be classified into 3 subtypes:<br />
:* Primary cutaneous anaplastic large cell lymphoma<br />
:* Primary systemic anaplastic large cell lymphoma<br />
::* Nodal anaplastic large cell lymphoma<br />
::* Extra nodal anaplastic large cell lymphoma <br />
:* Implant associated anaplastic large cell lymphoma <br />
* Based on histology, anaplastic large cell lymphoma may be classified into 3 subtypes:<ref name="pmid26104084">{{cite journal| author=Zeng Y, Feldman AL| title=Genetics of anaplastic large cell lymphoma. | journal=Leuk Lymphoma | year= 2016 | volume= 57 | issue= 1 | pages= 21-7 | pmid=26104084 | doi=10.3109/10428194.2015.1064530 | pmc=4732699 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26104084 }} </ref><br />
:* Classical Variants<br />
:* Atypical Variants<br />
:* Rare Variants<br />
<br />
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"<br />
|+ '''Classification based on the clinical presentation'''<br />
! style="background: #4479BA;; color:#FFF;" | Name<br />
! style="background: #4479BA;; color:#FFF;" | Description<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Primary cutaneous anaplastic large cell lymphoma<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* Confined to the skin<br />
* Usually a single lump or tumor in the skin.<br />
* May also spread to lymph nodes in the area.<br />
* Associated with a rare skin condition called [[lymphomatoid papulosis]].<br />
* Less aggressive than primary systemic anaplastic large cell lymphoma.<br />
* Occasionally individuals have a spontaneous remission.<br />
* Fairly good prognosis. <br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Primary systemic anaplastic large cell lymphoma<br />
| style="padding: 5px 5px; background: #F5F5F5;" |<br />
* Usually involves the lymph nodes.<br />
* Can also occur in organs or tissues other than the lymph nodes (extranodal sites), including: lungs, liver, bone marrow, bone, gastrointestinal tract, skin, and soft tissue.<br />
* Most individuals have advanced stage (stage III or IV) disease when they are diagnosed.<br />
* Usually a fast-growing (aggressive) lymphoma<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Implant associated anaplastic large cell lymphoma <br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* The tumor initially manifests with swelling of the breast due to fluid accumulation around the implant.<br />
* May progress to invade the tissue surrounding the capsule, and if left untreated may progress to axillary lymph nodes<ref>Miranda RN, Aladily TN, Prince HM, Kanagal-Shamanna R, de Jong D, Fayad LE,Amin MB, Haideri N, Bhagat G, Brooks GS, Shifrin DA, O'Malley DP, Cheah CY, Bacchi CE, Gualco G, Li S, Keech JA Jr, Hochberg EP, Carty MJ, Hanson SE, Mustafa E, Sanchez S, Manning JT Jr, Xu-Monette ZY, Miranda AR, Fox P, Bassett RL, Castillo JJ, Beltran BE, de Boer JP, Chakhachiro Z, Ye D, Clark D, Young KH, Medeiros LJ. Breast implant-associated anaplastic large-cell lymphoma: long-term follow-up of 60 patients. J Clin Oncol. 2014 Jan 10;32(2):114-20.</ref><br />
|}<br />
<br />
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"<br />
<br />
|+ '''Histologic Classification''' <ref name="Swerdlow">{{cite book | last = Swerdlow | first = Steven | title = WHO classification of tumours of haematopoietic and lymphoid tissues | publisher = International Agency for Research on Cancer | location = Lyon, France | year = 2008 | isbn = 9789283224310 }}</ref> <br />
! style="background: #4479BA;; color:#FFF;" | Name<br />
! style="background: #4479BA;; color:#FFF;" | Description<br />
|-<br />
| colspan="2" style="padding: 5px 5px; background: #DCDCDC;" | '''Classical Variants'''<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Common pattern<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* ALK positive anaplastic large cell lymphoma<br />
* Most common morphological variant (75%)<ref name="pmid9736036">{{cite journal| author=Falini B, Bigerna B, Fizzotti M, Pulford K, Pileri SA, Delsol G et al.| title=ALK expression defines a distinct group of T/null lymphomas ("ALK lymphomas") with a wide morphological spectrum. | journal=Am J Pathol | year= 1998 | volume= 153 | issue= 3 | pages= 875-86 | pmid=9736036 | doi=10.1016/S0002-9440(10)65629-5 | pmc=PMC1853018 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9736036 }}</ref><br />
* In large cells, nucleoli tend to be more prominent. <br />
* The cytoplasm may be either [[basophilic]] or [[eosinophilic]] and the cell may have many nuclei with dispersed or clumped [[chromatin]]. <br />
* Given that the lymphomatous cells grow in the lymph node's sinuses, this variant may ressemble a metastatic tumo.r<br />
|-<br />
| colspan="6" style="padding: 5px 5px; background: #DCDCDC;" | '''Atypical Variants'''<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Small cell<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* ALK positive anaplastic large cell lymphoma<br />
* Cells have nuclear irregularity and perivascular/intravascular distribution.<ref name="pmid8394652">{{cite journal| author=Kinney MC, Collins RD, Greer JP, Whitlock JA, Sioutos N, Kadin ME| title=A small-cell-predominant variant of primary Ki-1 (CD30)+ T-cell lymphoma. | journal=Am J Surg Pathol | year= 1993 | volume= 17 | issue= 9 | pages= 859-68 | pmid=8394652 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8394652 }}</ref> <br />
* Occasionally, lymphomatous cells have a pale cytoplasm with a central nucleus, described as "fried egg cell".<ref name="Swerdlow">{{cite book | last = Swerdlow | first = Steven | title = WHO classification of tumours of haematopoietic and lymphoid tissues | publisher = International Agency for Research on Cancer | location = Lyon, France | year = 2008 | isbn = 9789283224310 }}</ref><br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Lymphohistiocytic<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* ALK positive anaplastic large cell lymphoma<br />
* [[Histiocytes]] have an [[acidophilic]] cytoplasm and a perinuclear clear area, with an eccentric nuclei and condensed chromatin.<ref>{{cite web|url=http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1858171/pdf/amjpathol00028-0072.pdf|title=<br />
Frequent Expression ofthe NPM-ALK Chimeric Fusion Protein inAnaplastic Large-Cell Lymphoma, Lympho-Histiocytic Type}}</ref> <br />
* Lymphomatous cells cluster around the perivascular area as demonstrated by immunostaining with [[CD30]] and ALK antibodies.<ref name="Swerdlow">{{cite book | last = Swerdlow | first = Steven | title = WHO classification of tumours of haematopoietic and lymphoid tissues | publisher = International Agency for Research on Cancer | location = Lyon, France | year = 2008 | isbn = 9789283224310 }}</ref><br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Giant cell<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* ALK positive anaplastic large cell lymphoma<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Hodgkin's like<br />
| style="padding: 5px 5px; background: #F5F5F5;" | <br />
* The morphological characteristics of this pattern are similar to the nodular sclerosis variant of [[Hodgkin's lymphoma]].<ref name="pmid16434897">{{cite journal| author=Vassallo J, Lamant L, Brugieres L, Gaillard F, Campo E, Brousset P et al.| title=ALK-positive anaplastic large cell lymphoma mimicking nodular sclerosis Hodgkin's lymphoma: report of 10 cases. | journal=Am J Surg Pathol | year= 2006 | volume= 30 | issue= 2 | pages= 223-9 | pmid=16434897 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16434897 }}</ref> <br />
* This pattern is predominately more common among females.<br />
* There are two immunophenotypes:<ref name="pmid16434897">{{cite journal| author=Vassallo J, Lamant L, Brugieres L, Gaillard F, Campo E, Brousset P et al.| title=ALK-positive anaplastic large cell lymphoma mimicking nodular sclerosis Hodgkin's lymphoma: report of 10 cases. | journal=Am J Surg Pathol | year= 2006 | volume= 30 | issue= 2 | pages= 223-9 | pmid=16434897 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16434897 }}</ref><ref name="pmid26104084">{{cite journal| author=Zeng Y, Feldman AL| title=Genetics of anaplastic large cell lymphoma. | journal=Leuk Lymphoma | year= 2016 | volume= 57 | issue= 1 | pages= 21-7 | pmid=26104084 | doi=10.3109/10428194.2015.1064530 | pmc=4732699 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26104084 }} </ref><br />
**Positive: [[CD30]], ALK, epithelial membrane antigen (EMA), [[CD43]] (only 66% of the times), and [[perforin]]<br />
**Negative: [[CD15]], [[CD20]], Pax5/BSAP, and [[EBV]]<br />
|-<br />
| colspan="6" style="padding: 5px 5px; background: #DCDCDC;" | '''Rare Variants'''<br />
|-<br />
| style="text-align: center; padding: 5px 5px; background: #F5F5F5;" | Sarcomatoid<br />
| style="padding: 5px 5px; background: #F5F5F5;" |<br />
* ALK positive anaplastic large cell lymphoma<br />
|}<br />
<br />
==References==<br />
{{Reflist|2}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Disease]]<br />
[[Category:Pathology]]<br />
[[Category:Hematology]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Oncology]]<br />
[[Category:Medicine]]<br />
[[Category:Hematology]]<br />
[[Category:Immunology]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Hypoaldosteronism_differential_diagnosis&diff=1502914
Hypoaldosteronism differential diagnosis
2018-11-13T15:30:30Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Hypoaldosteronism}}<br />
{{CMG}}; {{AE}}{{SSW}}{{Akshun}}<br />
<br />
==Overview==<br />
Hypoaldosteronism must be differentiated from other diseases that cause [[hypotension]] and [[muscle weakness]] such as [[Addison's disease]], salt-depletion [[nephritis]],<br />
[[myopathies]], [[celiac disease]], [[Peutz-Jeghers syndrome]], [[anorexia nervosa]], [[Syndrome of inappropriate antidiuretic hormone|syndrome of inappropriate anti-diuretic hormone (SIADH)]], [[neurofibromatosis]], [[porphyria cutanea tarda]], and [[bronchogenic carcinoma]]. In addition, measurement of [[Plasma renin activity|plasma renin activity (PRA)]], serum [[aldosterone]], and serum [[cortisol]] is used to [[differentiate]] among various subtypes of hypoaldosteronism.<br />
<br />
==Differentiating Hypoaldosteronism from other Diseases==<br />
* Various subtypes of hypoaldosteronism can be differentiated on the basis of [[Plasma renin activity|plasma renin activity (PRA)]], serum [[aldosterone]], and serum [[cortisol]]. These tests are performed after maintaining an upright position for three hours. Under normal conditions, maintaining an upright position for long duration activates the neuro-hormonal regulation by the [[kidneys]] which leads to increased [[renin]] and [[aldosterone]] release.<br />
* The following table distinguishes among various subtypes of hypoaldosteronism:<br />
<br><br />
{|<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center " - | Disorder<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center " - | Plasma Renin Activity<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center " - | Plasma Aldosterone<br />
! style="background: #4479BA; color: #FFFFFF; text-align: center " - | Plasma Cortisol<br />
|-<br />
| style="background: #DCDCDC; text-align: center " |Hyporeninemic hypoaldosteronism<br />
| style="background: #F5F5F5; text-align: center " |Low <br />
| style="background: #F5F5F5; text-align: center " |Low <br />
| style="background: #F5F5F5; text-align: center " |Normal<br />
|-<br />
| style="background: #DCDCDC; text-align: center " |Hypereninemic hypoaldosteronism<br />
| style="background: #F5F5F5; text-align: center " |Increased<br />
| style="background: #F5F5F5; text-align: center " |Low <br />
| style="background: #F5F5F5; text-align: center " |Normal/↓<br />
|-<br />
| style="background: #DCDCDC; text-align: center " |Primary adrenal insufficiency<br />
| style="background: #F5F5F5; text-align: center " |High<br />
| style="background: #F5F5F5; text-align: center " |Low <br />
| style="background: #F5F5F5; text-align: center " |Low <br />
|-<br />
| style="background: #DCDCDC; text-align: center " |Pseudohypoaldosteronism type I<br />
| style="background: #F5F5F5; text-align: center " |High<br />
| style="background: #F5F5F5; text-align: center " |High<br />
| style="background: #F5F5F5; text-align: center " |Normal<br />
|-<br />
| style="background: #DCDCDC; text-align: center " |Pseudohypoaldosteronism type II<br />
| style="background: #F5F5F5; text-align: center " |Normal/↓<br />
| style="background: #F5F5F5; text-align: center " |Normal/↓<br />
| style="background: #F5F5F5; text-align: center " |Normal<br />
|}<br />
<br><br />
* Hypoaldosteronism must be differentiated from other diseases that cause [[hypotension]] and [[muscle weakness]] such as [[Addison's disease]], [[myopathies]], [[celiac disease]], [[Peutz-Jeghers syndrome]], [[anorexia nervosa]], [[Syndrome of inappropriate antidiuretic hormone|syndrome of inappropriate anti-diuretic hormone (SIADH)]], [[neurofibromatosis]], [[porphyria cutanea tarda]], salt-depletion [[nephritis]] and [[bronchogenic carcinoma]].<ref name="pmid16483775">{{cite journal |vauthors=Selva-O'Callaghan A, Labrador-Horrillo M, Gallardo E, Herruzo A, Grau-Junyent JM, Vilardell-Tarres M |title=Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency |journal=Neuromuscul. Disord. |volume=16 |issue=3 |pages=208–9 |year=2006 |pmid=16483775 |doi=10.1016/j.nmd.2006.01.005 |url=}}</ref><ref name="pmid11427410">{{cite journal |vauthors=Kumar V, Rajadhyaksha M, Wortsman J |title=Celiac disease-associated autoimmune endocrinopathies |journal=Clin. Diagn. Lab. Immunol. |volume=8 |issue=4 |pages=678–85 |year=2001 |pmid=11427410 |pmc=96126 |doi=10.1128/CDLI.8.4.678-685.2001 |url=}}</ref><ref name="pmid9496878">{{cite journal |vauthors=Adams R, Hinkebein MK, McQuillen M, Sutherland S, El Asyouty S, Lippmann S |title=Prompt differentiation of Addison's disease from anorexia nervosa during weight loss and vomiting |journal=South. Med. J. |volume=91 |issue=2 |pages=208–11 |year=1998 |pmid=9496878 |doi= |url=}}</ref><ref name="pmid6414566">{{cite journal |vauthors=Lever EG, Stansfeld SA |title=Addison's disease, psychosis, and the syndrome of inappropriate secretion of antidiuretic hormone |journal=Br J Psychiatry |volume=143 |issue= |pages=406–10 |year=1983 |pmid=6414566 |doi= |url=}}</ref><ref name="pmid13356214">{{cite journal |vauthors=BELL R, PATTEE CJ |title=Addison's disease associated with neurofibromatosis |journal=Can Med Assoc J |volume=75 |issue=5 |pages=415–7 |year=1956 |pmid=13356214 |pmc=1823303 |doi= |url=}}</ref><br />
<br><br />
{| <br />
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"<br />
! rowspan="2" |Disease<br />
! colspan="7" |Differentiating symptoms<br />
! colspan="3" |Differentiating laboratory findings<br />
! rowspan="2" |Gold standard test<br />
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"<br />
|'''Hypotension'''<br />
|'''Abdominal pain'''<br />
|'''Anorexia/'''<br />
'''weight loss'''<br />
|'''Muscle weakness'''<br />
|'''Hypoglycemia'''<br />
|'''Skin pigmentation'''<br />
|'''Other symptoms'''<br />
|'''Hyponatremia'''<br />
|'''Cortisol levels'''<br />
|'''Other labs'''<br />
|-<br />
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Hypoaldosteronism<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/-<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/-<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |[[Muscle]] [[tenderness]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/-<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Normal<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | ---<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<br />
|-<br />
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Addison's disease]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |N/A<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Low<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | ---<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |[[ACTH stimulation test]]<br />
|-<br />
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Salt-depletion [[nephritis]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |[[Flank pain]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px;" |<br />
* [[Fever]]<br />
* [[Dysuria]]<br />
* [[Pyuria]]<br />
* [[Oliguria]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Elevated<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<15:1 [[BUN-to-creatinine ratio|BUN:CR]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | ---<br />
|-<br />
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Myopathies]]<br />
([[polymyositis]], <br />
<br />
hereditary [[myopathies]])<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Heliotrope rash and <br />
Gottron's sign<br />
| style="background: #F5F5F5; padding: 5px;" |<br />
* [[Muscle]] [[tenderness]] <br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Normal<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |N/A<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |[[Muscle biopsy]]<br />
|-<br />
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Anorexia nervosa]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px;" |<br />
* Distorted [[body image]]<br />
* [[Oligomenorrhea]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Elevated<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |N/A<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |[[Psychiatric]] condition<br />
|-<br />
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Celiac disease]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |[[Dermatitis herpetiformis]] <br />
| style="background: #F5F5F5; padding: 5px;" |<br />
* [[Greasy stools]]<br />
* Increased [[fecal fat]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Normal<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |N/A<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Abnormal [[small bowel]] [[biopsy]]<br />
|-<br />
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Syndrome of inappropriate antidiuretic hormone|Syndrome of inappropriate anti-diuretic hormone]]<br />
[[Syndrome of inappropriate antidiuretic hormone|(SIADH)]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |N/A<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Normal<br />
| style="background: #F5F5F5; padding: 5px;" |<br />
* Decreased [[osmolality]]<br />
* Euvolemia<br />
* [[Sodium]] in [[urine]] typically >20 mEq/L<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Water deprivation test<br />
|-<br />
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Neurofibromatosis]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Axillary- and inguinal-area freckling<br />
| style="background: #F5F5F5; padding: 5px;" |<br />
* Occasional development of peripheral [[sarcomas]]<br />
* May have overgrowth of [[Subcutaneous tissue|subcutaneous tissues]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |N/A<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |[[Skin biopsy|Biopsy of skin tissue]]<br />
|- <br />
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Peutz-Jeghers syndrome]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |N/A<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |N/A<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |N/A<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |N/A<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px;" |<br />
* Melanotic [[hyperpigmentation]] of the [[skin]] and [[mucous membranes]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Normal<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |N/A<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Colonic [[imaging]] showing the [[Small intestine|small intestinal]] [[polyps]]<br />
|- <br />
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Porphyria cutanea tarda]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |[[Blisters]] on sun-exposed sites<br />
| style="background: #F5F5F5; padding: 5px;" |<br />
* Associated [[liver disease]] (usually [[hepatitis C]])<br />
* [[Hypertrichosis]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Normal or elevated<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |High level of [[porphyrins]] in the [[urine]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<br />
|-<br />
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Bronchogenic carcinoma]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/-<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<br />
* [[Cough]]<br />
* [[Dyspnea]]<br />
* [[Hemoptysis]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Elevated<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Increased [[ACTH]] and<br />
[[Hypokalemia]]<br />
| style="background: #F5F5F5; padding: 5px; text-align: center;" |[[Cytological]] or [[histological]] [[evidence]] of [[lung cancer]] in [[sputum]], [[pleural fluid]], or tissue<br />
|}<br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Disease]]<br />
[[Category:Endocrinology]]<br />
[[Category:Nephrology]]<br />
[[Category:Emergency medicine]]<br />
[[Category:Medicine]]<br />
[[Category:Up-To-Date]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Hypoaldosteronism_medical_therapy&diff=1502913
Hypoaldosteronism medical therapy
2018-11-13T15:29:23Z
<p>Sargun Walia: </p>
<hr />
<div>__NOTOC__<br />
{{Hypoaldosteronism}}<br />
{{CMG}}; {{AE}}{{SSW}}{{Akshun}}<br />
<br />
==Overview==<br />
The mainstay of treatment for hypoaldosteronism depends upon the level of plasma [[potassium]]. Prompt [[ECG]] is advised in all [[patients]] suspected of hypoaldosteronism as [[hyperkalemia]] may lead to [[Conduction disorders|cardiac conduction defects]] and life threatening [[arrhythmias]]. Patients with no [[ECG]] changes and moderate [[hyperkalemia]] (6.5–7.5 mmol/l) require only monitoring. Patients with severe [[hyperkalemia]] (>7.5 mmol/l) are treated with [[emergency]] measures for [[hyperkalemia]] ([[calcium]], [[insulin]], [[Beta2-adrenergic receptor agonist|β<sub>2</sub> agonist]] or cation resins) and [[fludrocortisone]]. Depending upon the [[volume status]], [[patients]] may be treated with either [[Normal saline|0.9% normal saline]] ([[hypovolemia]]) or [[furosemide]] ([[Hypervolemia|hypervolemic]]).<br />
<br />
==Medical Therapy==<br />
[[Medical]] [[therapy]] for hypoaldosteronism depends upon the [[age]] of the [[patient]] and other concurrent [[disorders]] such as [[diabetic nephropathy]] and [[renal insufficiency]]. [[Medical]] [[therapy]] includes: <ref name="pmid24944031">{{cite journal| author=Magill SB| title=Pathophysiology, diagnosis, and treatment of mineralocorticoid disorders. | journal=Compr Physiol | year= 2014 | volume= 4 | issue= 3 | pages= 1083-119 | pmid=24944031 | doi=10.1002/cphy.c130042 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24944031 }} </ref><ref name="pmid8928409">{{cite journal |vauthors=Hrnciar J |title=[Diabetic nephropathy and isolated hyporeninemic hypoaldosteronism] |language=Slovak |journal=Vnitr Lek |volume=42 |issue=6 |pages=394–9 |year=1996 |pmid=8928409 |doi= |url=}}</ref><ref name="pmid4604546">{{cite journal |vauthors=Ettinger PO, Regan TJ, Oldewurtel HA |title=Hyperkalemia, cardiac conduction, and the electrocardiogram: a review |journal=Am. Heart J. |volume=88 |issue=3 |pages=360–71 |year=1974 |pmid=4604546 |doi= |url=}}</ref><br />
*Prompt [[ECG]] must be obtained in all suspected [[patients]] of hypoaldosteronism as [[hyperkalemia]] may alter the [[Electrical conduction system of the heart|electrical activity of heart]] and predispose to life threatening [[arrhythmias]].<br />
*Patients with no [[ECG]] changes and moderate [[hyperkalemia]] (6.5–7.5 mmol/l) require only monitoring [[potassium]] [[concentrations]].<br />
**[[Drugs]] promoting [[hyperkalemia]] should be avoided, such as [[Beta blockers|β blockers]], [[ACE inhibitor]], [[angiotensin receptor blockers]] and [[potassium-sparing diuretics]].<br />
**Reduced [[dietary]] intake of [[potassium]].<br />
*Patients with severe [[hyperkalemia]] (>7.5 mmol/l) are treated with [[emergency]] measures for [[hyperkalemia]] as necessary (see below) and [[fludrocortisone]] 0.05 to 0.1 mg PO q24h.<br />
*Depending upon the [[volume status]], patients may be treated with: <br />
**In [[Hypovolemia|hypovolemic]] [[patients]], [[Normal saline|normal saline 0.9%]] is given to restore [[volume status]].<br />
**In [[Hypervolemia|hypervolemic]] [[patients]] (signs of volume overload) or underlying [[heart failure]], [[furosemide]] 20 to 40 mg q24h is given.<br />
'''1. Management of Hyperkalemia'''<br />
* '''1.1 [[Calcium]] supplementation''' <br />
** Preferred regimen (1): [[Calcium gluconate]] 10% (10ml)<br />
*: '''Note:''' Usually infused through a [[central venous catheter]] as the [[calcium]] may cause [[phlebitis]] and does not lower [[potassium]] but decreases [[myocardium|myocardial]] excitability, protecting against life threatening [[arrhythmias]].<br />
* '''1.2 [[Insulin]]''' <br />
** Preferred regimen (1): Short acting [[insulin]] (e.g. [[Actrapid]]) 10-15 u IV along with 50 ml of 50% dextrose (to prevent [[hypoglycemia]]) <br />
*: '''Note:''' Short acting Insulin leads to a shift of [[potassium]] ions into cells, secondary to increased activity of the [[sodium-potassium ATPase]].<br />
* '''1.3 [[Bicarbonate]] therapy'''<br />
** Preferred regimen (1): [[Sodium bicarbonate]] 1 [[ampule]] (45mEq) infused over 5 minutes is effective in cases of [[metabolic acidosis]].<br />
*: '''Note:'''The [[bicarbonate]] ion will stimulate an exchange of cellular H<sup>+</sup> for Na<sup>+</sup>, thus leading to stimulation of the [[sodium-potassium ATPase]].<br />
* '''1.4 β<sub>2</sub>-selective agonist'''<br />
** Preferred regimen (1): [[Salbutamol]] [[nebulization]] (e.g. 10-20 mg)<br />
** Preferred regimen (2): ([[Albuterol]], [[Ventolin]]<sup>®</sup>) [[nebulization]] (e.g. 10-20 mg) <br />
*: '''Note:''' This [[drug]] promotes movement of [[potassium]] into [[cells]], lowering the [[blood]] levels.<br />
* '''1.5 Potassium binding resins'''<br />
** Preferred regimen (1): [[Polystyrene sulfonate]] (calcium resonium, [[kayexalate]]) is a binding resin that binds [[potassium]] within the [[Intestines|intestine]] and removes it from the [[body]] by [[defecation]]. <br />
** Preferred regimen (2): [[Calcium resonium]] (15g three times a day in water) can be given by [[mouth]].<br />
** Preferred regimen (3): [[Kayexalate]] can be given by [[mouth]] or as an [[enema]]. In both cases, the resin absorbs [[potassium]] within the [[Intestines|intestine]] and carries it out of the body by [[defecation]].<br />
** Preferred regimen (4): [[Patiromer]] [[anion]] <br />
*: '''Note (1):''' [[Kayexalate]] may cause [[diarrhea]].<br />
*: '''Note (2):''' [[Refractory]] or severe cases may need [[dialysis]] to remove the [[potassium]] from the [[circulation]].<br />
*: '''Note (3):''' Preventing recurrence of [[hyperkalemia]] typically involves reduction of [[dietary]] [[potassium]], removal of an offending [[medication]], and/or the addition of a [[diuretic]] (such as [[furosemide]] (Lasix<sup>®</sup>) or [[hydrochlorothiazide]]).<br />
*: '''Note (4):''' [[Patiromer]] [[anion]] is a [[potassium]] binding ion cation exchange polymer that increases the [[gastrointestinal]] excretion of [[potassium]] (it is available in 8.4, 16.8, and 25.2 grams of powder in packets to be administered once daily).<br />
*: '''Note (5):''' [[Patiromer]] should not be used as an [[emergency]] treatment for life-threatening [[hyperkalemia]] because of its delayed onset of action.<br />
'''2. Management on the basis of subtype of hypoaldosteronism'''<br />
* '''2.1 Hyporeninemic Hypoaldosteronism''': Treatment is aimed at normalizing [[volume status]], plasma [[potassium]] and [[aldosterone]] levels.<ref name="pmid16632019">{{cite journal |vauthors=Kaisar MO, Wiggins KJ, Sturtevant JM, Hawley CM, Campbell SB, Isbel NM, Mudge DW, Bofinger A, Petrie JJ, Johnson DW |title=A randomized controlled trial of fludrocortisone for the treatment of hyperkalemia in hemodialysis patients |journal=Am. J. Kidney Dis. |volume=47 |issue=5 |pages=809–14 |year=2006 |pmid=16632019 |doi=10.1053/j.ajkd.2006.01.014 |url=}}</ref><ref name="pmid8342580">{{cite journal |vauthors=Singhal PC, Desroches L, Mattana J, Abramovici M, Wagner JD, Maesaka JK |title=Mineralocorticoid therapy lowers serum potassium in patients with end-stage renal disease |journal=Am. J. Nephrol. |volume=13 |issue=2 |pages=138–41 |year=1993 |pmid=8342580 |doi= |url=}}</ref><ref name="pmid7004370">{{cite journal |vauthors=Tan SY, Burton M |title=Hyporeninemic hypoaldosteronism. An overlooked cause of hyperkalemia |journal=Arch. Intern. Med. |volume=141 |issue=1 |pages=30–3 |year=1981 |pmid=7004370 |doi= |url=}}</ref><br />
**'''2.1.1 [[Thiazide diuretics]]:'''<br />
***Preferred regimen (1): [[furosemide]] 20 to 40 mg 24h<br />
**:'''Note:''' [[Diuretics]] are the first-line therapy for [[patients]] with severe [[hyperkalemia]] (>7.5 mmol/l) and [[fluid overload]] (seen in [[renal]] impairment or [[congestive heart failure]]). Avoid [[diuretics]] in [[patients]] with [[signs]] of [[hypotension]] or [[volume depletion]].<br />
**'''2.1.2''' [[Patients]] who are unable to tolerate [[diuretics]] due to underlying [[hypotension]] or [[volume depletion]] are treated with:<br />
***Preferred regimen (1): [[Sodium bicarbonate]] (NaHCO3) <br />
**:'''Note:''' [[Sodium bicarbonate]] (NaHCO3) is the second line [[therapy]] and used in [[patients]] with 'normal [[renal function]] '''and''' who cannot tolerate [[diuretics]]' due to underlying [[hypotension]] or [[volume depletion]]. In these patients [[sodium bicarbonate]] (NaHCO3) can be used to increase distal delivery of [[bicarbonate]] [[anion]] and increase [[urinary]] [[potassium]] [[excretion]]. [[Sodium bicarbonate]] (NaHCO3) also corrects underlying [[metabolic acidosis]]. <br />
***Preferred regimen (2): [[Sodium polystyrene sulfonate]] <br />
**:'''Note:''' [[Sodium polystyrene sulfonate]] is used in patients with [[Renal function impairment|inadequate renal function]] '''and''' decreased [[potassium]] excretion. 1 gm of [[sodium polystyrene sulfonate]] can remove upto 1 mEq of [[potassium]]. <br />
**'''2.1.3 [[Aldosterone]] analogues:'''<br />
***Preferred regimen (1): [[fludrocortisone]] 0.1-0.3 mg q24h<br />
**:'''Note:''' [[Aldosterone]] analogues such as [[fludrocortisone]] in the dose of 0.1-0.3 mg q24h are the third line therapy .<br />
<br />
* '''2.2 Hyperreninemic hypoaldosteronism''': Secondary isolated hypoaldosteronism also known as hyperreninemic hypoaldosteronism is seen in [[patients]] with severe underlying [[Illnesses|illness]] such as [[liver cirrhosis]] or [[heart failure]].<ref name="pmid6256154">{{cite journal |vauthors=Aguilera G, Fujita K, Catt KJ |title=Mechanisms of inhibition of aldosterone secretion by adrenocorticotropin |journal=Endocrinology |volume=108 |issue=2 |pages=522–8 |year=1981 |pmid=6256154 |doi=10.1210/endo-108-2-522 |url=}}</ref><br />
** '''2.2.1:''' The primary focus of the treatment in hyperreninemic hypoaldosteronism is to treat the underlying condition.<br />
** '''2.2.2:''' Decreased level of [[aldosterone]] in patients of hyperreninemic hypoaldosteronism does not lead to any [[clinical]] [[complications]] and is therefore seldom treated.<br />
<br />
* '''2.3 Isolated hypoaldosteronism''':<ref name="pmid26981183">{{cite journal| author=Sousa AG, Cabral JV, El-Feghaly WB, de Sousa LS, Nunes AB| title=Hyporeninemic hypoaldosteronism and diabetes mellitus: Pathophysiology assumptions, clinical aspects and implications for management. | journal=World J Diabetes | year= 2016 | volume= 7 | issue= 5 | pages= 101-11 | pmid=26981183 | doi=10.4239/wjd.v7.i5.101 | pmc=4781902 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26981183 }} </ref><br />
** '''2.3.1 [[Aldosterone]] analogues:'''<br />
**: Preferred regime (1): 9α-[[fludrocortisone]] 0.05 to 0.2 mg q24h<br />
**: '''Note (1):''' Isolated hypoaldosteronism from [[CYP11B2]] [[gene]] [[mutation]] presents in [[infancy]] and are treated with 9α-[[fludrocortisone]].<br />
**: '''Note (2):''' In adults treatment is not necessary.<ref name="pmid26981183" /><br />
<br />
* '''2.4 Pseudohypoaldosteronism type I''': Patients of [[pseudohypoaldosteronism]] are resistant to [[aldosterone]] or [[mineralocorticoid]] therapy and treatment is based on:<ref name="pmid28484659">{{cite journal |vauthors=Nur N, Lang C, Hodax JK, Quintos JB |title=Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature |journal=Case Rep Pediatr |volume=2017 |issue= |pages=7939854 |year=2017 |pmid=28484659 |pmc=5412170 |doi=10.1155/2017/7939854 |url=}}</ref><br />
** Correcting the underlying [[electrolyte abnormalities]] with [[sodium chloride]] (2 to 8 g q24h) and cation-exchange resins such as [[sodium polystyrene sulfonate]].<br />
** [[Thiazide diuretics]] are used to treat [[hyperkalemia]]. In patients with severe [[hyperkalemia]] (>7.5 mmol/l) [[peritoneal dialysis]] may also be done.<br />
** [[Pseudohypoaldosteronism]] decreases after few years and the [[therapy]] may be discontinued. However, these [[patients]] require [[salt]] supplementation till first 3-4 years of [[life]].<br />
<br />
* '''2.5 Primary or secondary adrenal insufficiency''': These [[patients]] are treated with [[fludrocortisone]] and [[cortisol]]:<ref name="pmid28316939">{{cite journal |vauthors=Maesaka JK, Imbriano LJ, Miyawaki N |title=Application of established pathophysiologic processes brings greater clarity to diagnosis and treatment of hyponatremia |journal=World J Nephrol |volume=6 |issue=2 |pages=59–71 |year=2017 |pmid=28316939 |pmc=5339638 |doi=10.5527/wjn.v6.i2.59 |url=}}</ref><br />
**'''2.5.1 [[Fludrocortisone]]:''' <br />
***Preferred regimen (1): [[fludrocortisone]] 0.1 mg PO q24h.<br />
****Reduce dose to 0.05 mg q24h if [[transient]] [[hypertension]] develops.<br />
****[[Maintenance dose|Maintenance dosage]] range: 0.1 mg 3 times weekly to 0.2 mg q24h. <br />
**'''2.5.2 [[Cortisone]] or [[hydrocortisone]]:''' <br />
***Preferred regimen (1): [[Cortisone]] 10 to 37.5 mg q12h [[Orally ingested|orally]] given in 2 divided doses with two-thirds of the total [[dose]] given in the morning (around 8 a.m.) and one third in the afternoon (noon to 4 p.m.).<br />
For complete [[therapy]] in [[adrenal insufficiency]] please [[Addison's disease medical therapy|click here.]]<br />
<br />
==References==<br />
{{Reflist|2}}<br />
<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Disease]]<br />
[[Category:Endocrinology]]<br />
[[Category:Nephrology]]<br />
[[Category:Emergency medicine]]<br />
[[Category:Medicine]]<br />
[[Category:Up-To-Date]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Plasmodium_knowlesi&diff=1502063
Plasmodium knowlesi
2018-11-06T14:58:42Z
<p>Sargun Walia: </p>
<hr />
<div><br />
{{CMG}}; {{AE}}{{Marjan}}<br />
<br />
{{Taxobox<br />
| color = khaki<br />
| name = ''Plasmodium knowlesi''<br />
| regnum = [[Protista]]<br />
| phylum = [[Apicomplexa]]<br />
| classis = [[Aconoidasida]]<br />
| ordo = [[Haemosporida]]<br />
| familia = [[Plasmodiidae]]<br />
| genus = ''[[Plasmodium]]''<br />
| species = '''''P. knowlesi'''''<br />
| binomial = ''Plasmodium knowlesi''<br />
| binomial_authority = <br />
}}<br />
<br />
'''''Plasmodium knowlesi''''' is a [[primate]] [[malaria]] parasite commonly found in [[Southeast Asia]]. It causes malaria in long-tailed macaques (''[[Macaca fascicularis]]''), but it may also infect humans, either naturally or artificially.<br />
<br />
==Epidemiology==<br />
Reports of human ''P. knowlesi'' infections are confined to Southeast Asia,<ref>{{cite journal | author=Chin W, Contacos PG, Coatney RG, Kimbal HR. | journal=Science | year=1965 | title=A naturally acquired quotidian-type malaria in man transferable to monkeys | volume=149 | pages=865 | id=PMID 14332847 }}</ref><ref>{{cite journal | journal=Trans R Soc Trop Med Hyg | year=1971 | volume=65 | issue=6 | pages=839&ndash;40 | title=A presumptive case of naturally occurring ''Plasmodium knowlesi'' malaria in man in Malaysia | author=Yap FL, Cadigan FC, Coatney GR. | id=PMID 5003320 }}</ref> particularly Malaysia,<ref name="Singh2004">{{cite journal | journal=Lancet | year=2004 | volume=363 | pages=1017&ndash;24 | title=A large focus of naturally acquired ''Plasmodium knowlesi'' infections in human beings | author=Singh B, Lee KS, Matusop A, Radhakrishnan A, Shamsul SSG, Cox-Singh J, Thomas A, Conway DJ | doi=10.1016/S0140-6736(04)15836-4 }}</ref> but there are also reports on the Thai-Burmese border.<ref>{{cite journal | journal=Emerg Infect Dis | year=2004 | volume=10 | issue=12 | pages=2211&ndash;3 | title=Naturally acquired ''Plasmodium knowlesi'' malaria in human, Thailand | author=Jongwutiwes S, Putaporntip C, Iwasaki T, Sata T, Kanbara H. | id=PMID 15663864 }}</ref> A fifth of the cases of malaria diagnosed in [[Sarawak]], [[Malaysian Borneo]] are due to ''P. knowlesi''.<ref name="Singh2004"/><br />
<br />
''P. knowlesi'' infection is normally considered an infection of long-tailed (''Macaca fascicularis'') and pig-tailed (''M. nemestrina'') macaques, but humans who work at the forest fringe or enter the rainforest to work are at risk of being infected with ''P. knowlesi''. The mosquito ''[[Anopheles latens]]'' is attracted to both macaques and humans and has been shown to be the main vector transmitting ''P. knowlesi'' to humans in the Kapit Division of Sarawak, Malaysian Borneo''<ref name="Vythilingam2006">{{cite journal | author=Vythilingam I, Tan CH, Asmad M, Chan ST, Lee KS, Singh B. | title=Natural transmission of ''Plasmodium knowlesi'' to humans by ''Anopheles latens'' in Sarawak, Malaysia | journal=Trans R Soc Trop Med Hyg | year=2006 | volume=100 | pages=1087&ndash;88 | doi=10.1016/j.trstmh.2006.02.006 }}</ref>. ''Within the monkey population in Peninsular Malaysia,'' ''[[Anopheles hackeri|''A. hackeri'']]'', ''is believed to be the main vector of'' ''''P. knowlesi'''' : ''although'' ''''A. hackeri'''' ''is capable of transmitting malaria to humans'',<ref>{{cite journal | author=Wharton RH, Eyles DE. | title=''Anopheles hackeri,'' a vector of '''''Plasmodium knowlesi''''' in Malaya | year=1961 | journal=Lancet | journal=Science | volume=134 | pages=279&ndash;80 }}</ref> ''it is not normally attracted to humans and therefore cannot be an important vector for transmission.''<ref>{{cite journal | author=Reid JA, Weitz B. | year=1961 | title=Anopheline mosquitoes as vectors of animal malaria in Malaya | journal=Ann Trop Med Parasitol | volume=55 | pages=180&ndash;6 }}</ref><br />
<br />
==Diagnosis==<br />
''P. knowlesi'' infections is diagnosed by examining thick and thin blood films in the same way as other [[malaria]]s. The appearance of ''P. knowlesi'' is similar to that of ''[[Plasmodium malariae|P. malariae]]'' and is unlikely to be correctly diagnosed except by using molecular detection assays <ref name="Singh2004">{{cite journal | journal=Lancet | year=2004 | volume=363 | pages=1017&ndash;24 | title=A large focus of naturally acquired ''Plasmodium knowlesi'' infections in human beings | author=Singh B, Lee KS, Matusop A | doi=10.1016/S0140-6736(04)15836-4 }}</ref>in a malaria reference laboratory. There are no ill effects of misdiagnosing ''P. knowlesi'' as ''P. malariae,'' because the treatment is the same.<br />
<br />
==Treatment==<br />
''P. knowlesi'' infection responds well to treatment with [[chloroquine]] and [[primaquine]].<ref name="Singh2004"/><br />
<br />
==<i>Plasmodium knowlesi</i> genome data==<br />
* [http://www.genedb.org/genedb/pknowlesi/ GeneDB Plasmodium knowlesi]<br />
<br />
==References==<br />
<references/><br />
<br />
[[Category:Malaria]]<br />
<br />
{{protist-stub}}<br />
[[Category:apicomplexa]]<br />
[[Category:Malaria]]</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Parathyroid_disorders&diff=1501590
Parathyroid disorders
2018-11-02T20:25:20Z
<p>Sargun Walia: /* Diagnosis */</p>
<hr />
<div>__NOTOC__<br />
{{Parathyroid disorders}}<br />
{{CMG}}; {{AE}} {{Anmol}}, {{USAMA}}, {{SMP}}<br />
<br />
{{SK}} Disorders of parathyroid gland; Parathyroid gland disorders.<br />
<br />
==Overview==<br />
The [[parathyroid glands]] are small [[endocrine glands]] in the neck, usually located behind the [[thyroid|thyroid gland]], which produce [[parathyroid hormone]]. These glands were first discovered in the Indian Rhinoceros by Richard Owen in 1852. The sole function of the [[parathyroid glands]] is to maintain the body's [[calcium]] level within a very narrow range, so that the nervous and muscular systems can function properly. When blood [[calcium]] levels drop below a certain point, calcium-sensing receptors in the [[parathyroid gland]] are activated to release hormone into the blood. [[Parathyroid hormone]] ([[PTH]], also known as [[parathormone]]) is a small protein that takes part in the control of [[calcium]] and [[phosphate]] [[homeostasis]], as well as bone physiology. [[Parathyroid hormone]] has effects antagonistic to those of [[calcitonin]]. It increases blood calcium levels by stimulating [[osteoclasts]] to break down [[bone]] and release [[calcium]]. It also increases [[gastrointestinal]] calcium absorption by activating [[vitamin D]], and promotes calcium uptake by the [[kidneys]]. Hyperparathyroidism is overactivity of the [[parathyroid glands]] resulting in excess production of [[parathyroid hormone]] ([[PTH]]). Overactivity of one or more of the [[parathyroid glands]] causes high calcium levels ([[hypercalcemia]]) and low levels of [[phosphorus]] in the blood. Hyperfunctioning of the [[parathyroid glands]] could be due to [[adenoma]], [[hyperplasia]] or, rarely, [[carcinoma]] of the [[parathyroid glands]]. [[Hyperparathyroidism]] may present with symptoms of [[hypercalcemia]], such as painful bones, [[kidney stones]], [[abdominal pain]], psychic moans, and [[fatigue]]. An elevated concentration of [[Calcium|serum calcium]] with elevated [[parathyroid hormone]] level is diagnostic of [[Hyperparathyroidism|primary hyperparathyoidism]]. Surgical therapy is preferred over medical therapy in primary [[hyperparathyroidism]]. [[Hypoparathyroidism]] is a disorder characterized by [[hypocalcemia]] due to insufficient secretion of [[PTH]]. Most common cause for [[hypoparathyroidism]] is post-surgical including [[thyroidectomy]], [[parathyroidectomy]], and radical [[neck dissection]]. Second most common cause for [[hypoparathyroidism]] is [[autoimmune]] including [[polyglandular autoimmune syndrome type 1]] and isolated [[Hypoparathyroidism|autoimmune hypoparathyroidism]]. [[Hypoparathyroidism]] should be differentiated from other causes of [[hypocalcemia]]. Causes of [[hypocalcemia]] other than [[hypoparathyroidism]] include [[pseudohypoparathyroidism]], [[hypomagnesemia]], [[Vitamin D deficiency|hypovitaminosis D]], [[chronic kidney disease]], and relative [[hypocalcemia]] due to [[hypoalbuminemia]]. The hallmark of acute [[hypocalcemia]] due to [[hypoparathyroidism]] is [[tetany]]. A positive history of [[neck surgery]] and symptoms of [[hypocalcemia]] is suggestive of [[hypoparathyroidism]]. The most common symptoms of [[hypoparathyroidism]] include [[tetany]], [[paresthesia]], [[Carpopedal spasm|carpopedal spasms]], and circumoral [[numbness]]. Common symptoms of [[hypoparathyroidism]] include [[abdominal pain]], [[biliary colic]], [[fatigue]], [[muscle cramps]], [[Myoclonic jerk|myoclonic jerks]], new onset [[seizure]] due to [[hypocalcemia]] or worsening of [[Seizure|seizures]], and [[painful menstruation]]. Diagnosis of [[hypoparathyroidism]] is made by measurement of [[serum]] [[calcium]] (total and ionized), [[serum albumin]] (for correction), [[phosphate]], intact [[parathyroid hormone]] ([[PTH]]), and [[25-hydroxy vitamin D]] levels. Normal or inappropriately low serum intact [[parathyroid hormone]] ([[PTH]]) concentration in patients with subnormal [[serum albumin]] corrected total or ionized [[calcium]] concentration diagnostic of [[hypoparathyroidism]]. Pharmacologic medical therapies for [[hypoparathyroidism]] include [[Calcium supplement|calcium]] and [[Vitamin D3]] supplementation. Severe [[hypocalcemia]], a potentially life-threatening condition, is treated as soon as possible with [[intravenous]] [[calcium]] (e.g. as [[calcium gluconate]]).<br />
<br />
==Classification==<br />
Parathyroid disorders may be classified as follows:<ref name="pmid21812031">{{cite journal |vauthors=Bilezikian JP, Khan A, Potts JT, Brandi ML, Clarke BL, Shoback D, Jüppner H, D'Amour P, Fox J, Rejnmark L, Mosekilde L, Rubin MR, Dempster D, Gafni R, Collins MT, Sliney J, Sanders J |title=Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research |journal=J. Bone Miner. Res. |volume=26 |issue=10 |pages=2317–37 |year=2011 |pmid=21812031 |pmc=3405491 |doi=10.1002/jbmr.483 |url=}}</ref><ref name="pmid11117980">{{cite journal |vauthors=Marx SJ |title=Hyperparathyroid and hypoparathyroid disorders |journal=N. Engl. J. Med. |volume=343 |issue=25 |pages=1863–75 |year=2000 |pmid=11117980 |doi=10.1056/NEJM200012213432508 |url=}}</ref><br />
<br><br><br />
<br />
{{Family tree/start}}<br />
{{Family tree | | | | | | | | | | | | | | B01 | | | |B01= Parathyroid disorders}}<br />
{{Family tree | | | | | |,|-|-|-|-|-|v|-|-|^|-|-|v|-|-|-|-|-|.| }}<br />
{{Family tree | | | | | D01 | | | | D02 | | | | D03 | | | | D04 | | | | D01= [[Hyperparathyroidism]] | D02= [[Familial hypocalciuric hypercalcemia]] | D03= [[Hypoparathyroidism]] | D04=Parathyroid hormone resistance diseases}}<br />
{{Family tree | | | | | |!| | | | | | | | | | | |!| | | | | |!| }}<br />
{{Family tree | |,|-|-|-|+|-|-|-|.| | | | | | | |!| | | | | |!| | | }}<br />
{{Family tree | E01 | | E02 | | E03 | | | | | | |!| | | | | |!| | E01=Primary |E02=Secondary| E03=Tertiary }}<br />
{{Family tree | | | | | | | | | | | | | | | | | |!| | | | | |!| }}<br />
{{Family tree | | | | | | | | | | | | | | | | | |!| | | | | |!| }}<br />
{{Family tree | | | | | | | | |,|-|-|-|v|-|-|-|v|^|-|-|.| | |!| }}<br />
{{Family tree | | | | | | | E04 | | E05 | | E06 | | E07 | | |!| | E04=Post-surgical |E05=[[Autoimmune]] |E06=[[Genetic defects]] associated |E07=Functional}}<br />
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | |!| | }} <br />
{{Family tree | | | | | | | | | | | |,|-|-|-|-|-|v|-|-|-|-|-|^|.}}<br />
{{Family tree | | | | | | | | | | | F01 | | | | F02 | | | | | F03| |F01=[[Pseudohypoparathyroidism]] |F02=[[Acrodysostosis]]|F03=Blomstrand chondrodysplasia}}<br />
{{Family tree | | | | | | | | | | | |!| | | | | |!| | | | | | | | }}<br />
{{Family tree | | | | | | | | |,|-|-|^|-|-|.| | |`|v|-|-|-|-|.| | | | }}<br />
{{Family tree | | | | | | | | G01 | | | | G02 | | G03 | | | G04 | | | G01=[[Pseudohypoparathyroidism]] type 1|G02=[[Pseudohypoparathyroidism]] type 2|G03=[[Acrodysostosis]] type 1|G04=[[Acrodysostosis]] type 2}}<br />
{{Family tree | | | | | | | | |!| | | | | | | | | | | | | | | }}<br />
{{Family tree | | | |,|-|-|-|-|+|-|-|-|-|-|v|-|-|-|-|.| | | }}<br />
{{Family tree | | | H01 | | | H02 | | | | H03 | | | H04 | | H01=Type 1A|H02=Type 1B|H03=Type 1C|H04=[[Pseudopseudohypoparathyroidism]]}}<br />
{{Family tree/end}}<br />
<br />
==Diagnosis==<br />
The diagnosis of parathyroid disorders is mainly based on serum concentration of [[parathyroid hormone]], [[calcium]], and [[phosphate]].<ref name="pmid8964825">{{cite journal |vauthors=Silverberg SJ, Bilezikian JP |title=Evaluation and management of primary hyperparathyroidism |journal=J. Clin. Endocrinol. Metab. |volume=81 |issue=6 |pages=2036–40 |year=1996 |pmid=8964825 |doi=10.1210/jcem.81.6.8964825 |url=https://watermark.silverchair.com/api/watermark?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAfQwggHwBgkqhkiG9w0BBwagggHhMIIB3QIBADCCAdYGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMs2QB8t_zFXzSZJ4bAgEQgIIBp8fw3_iunlmFW1rMhoY9MDPeg_lHu7iYzuIrfwXHubghqdXOMvdWyttCOOgR3PHFZtE5IkmNB4hRahVQsPzHGwh5kiBmLGp9W8OQwFxrCIH0sBqjOxOiYc_yGAs0ybxF1mEh929-YxivBBC43EW1yFtSmwplSQfAWah7w6yxXbUhV8umq3pGQxqYDClp47IR7TyVeEneWZz85Z7MS80V4c-yZPG1ZPxQR-1kPk3rdji_8bAeXwJKRGScWzKPqSEQvXFWLV4sHwqgTrU53HSkURUJb8u-w4EOHMjtUATJPoGgFsZOcrf_xtPBZmcI_v5G3RO_cJDHueDwQNfRaGIO2ztcToFGmVpER4vGhqfrtr7mXHPNPyUUOa-_KWPE-qxDrUCG8kevm0tM8MButJkAmVdBxrIC4mSd8sAZb3KcfSKt9RUXFJpIiDoOut21ZFEGEU8O7vwjw4RhxridsegEUiCFWCxHftX9qUqELn90AJ2Fg1olxH9jI46KnEJPd7MNYReTvdeX5erBZmXjmP5oCT6vLYUbRLjXxyJQRl-d5N9O0vfTgZ5bbA}}</ref><ref name="pmid686009">{{cite journal |vauthors=Marx SJ, Spiegel AM, Brown EM, Koehler JO, Gardner DG, Brennan MF, Aurbach GD |title=Divalent cation metabolism. Familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism |journal=Am. J. Med. |volume=6http://www.sciencedirect.com/science/article/pii/0002934378908148?via%3Dihub5 |issue=2 |pages=235–42 |year=1978 |pmid=686009 |doi=10.1016/0002-9343(78)90814-8 |url=}}</ref><ref name="pmid18650515">{{cite journal |vauthors=Shoback D |title=Clinical practice. Hypoparathyroidism |journal=N. Engl. J. Med. |volume=359 |issue=4 |pages=391–403 |year=2008 |pmid=18650515 |doi=10.1056/NEJMcp0803050 |url=}}</ref><br />
<br />
{| class="wikitable"<br />
! colspan="2" rowspan="2" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Disorder}}<br />
! colspan="4" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Laboratory findings}}<br />
|-<br />
| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Parathyroid hormone''' }}<br />
| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Serum calcium'''}}<br />
| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Serum phosphate'''}}<br />
| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Other findings'''}}<br />
|-<br />
! rowspan="3" style="background: #DCDCDC; text-align: center;" | Hyperparathyroidism<br />
! style="background: #DCDCDC; text-align: center;" |Primary hyperparathyroidism<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↓'''/Normal<br />
| style="background: #F5F5F5; " |<br />
*Normal/'''↑''' [[calcitriol]]<br />
|-<br />
! style="background: #DCDCDC; text-align: center;" |Secondary hyperparathyroidism<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↓'''/Normal<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" | --<br />
|-<br />
! style="background: #DCDCDC; text-align: center;" |Tertiary hyperparathyroidism<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" | --<br />
|-<br />
! colspan="2" style="background: #DCDCDC; text-align: center;" |Familial hypocalciuric hypercalcemia<br />
| style="background: #F5F5F5; text-align: center;" |Normal/'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" |Normal/'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" | --<br />
| style="background: #F5F5F5;" |<br />
* '''↓''' Urinary calcium/[[creatinine]] clearance ratio<br />
|-<br />
! colspan="2" style="background: #DCDCDC; text-align: center;" |Hypoparathyroidism<br />
| style="background: #F5F5F5; text-align: center;" |'''↓'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↓'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; " |<br />
*'''↓''' [[1,25-dihydroxy vitamin D|1,25 Dihydroxy vitamin D]]<br />
*Normal [[urinary]] [[cAMP]]<br />
*Normal [[urinary]] [[phosphate]]<br />
|-<br />
! rowspan="5" style="background: #DCDCDC; text-align: center;" |Pseudohypoparathyroidism<br />
! style="background: #DCDCDC; text-align: center;" | Type 1A<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↓'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; " |<br />
*'''↓''' [[1,25-dihydroxy vitamin D|1,25 Dihydroxy vitamin D]]<br />
*'''↓''' [[Urinary]] [[cAMP]]<br />
*'''↓''' [[Urinary System|Urinary]] [[phosphate]]<br />
|-<br />
! style="background: #DCDCDC; text-align: center;" | Type 1B<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↓'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; " |<br />
*'''↓''' [[1,25-dihydroxy vitamin D|1,25 Dihydroxy vitamin D]]<br />
*'''↓''' [[Urinary]] [[cAMP]]<br />
*'''↓''' [[Urinary System|Urinary]] [[phosphate]]<br />
|-<br />
! style="background: #DCDCDC; text-align: center;" | Type 1C<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↓'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; " |<br />
*'''↓''' [[1,25-dihydroxy vitamin D|1,25 Dihydroxy vitamin D]]<br />
*'''↓''' [[Urinary]] [[cAMP]]<br />
*'''↓''' [[Urinary System|Urinary]] [[phosphate]]<br />
|-<br />
! style="background: #DCDCDC; text-align: center;" | Pseudopseudohypoparathyroidism<br />
| style="background: #F5F5F5; text-align: center;" |Normal<br />
| style="background: #F5F5F5; text-align: center;" |Normal<br />
| style="background: #F5F5F5; text-align: center;" |Normal<br />
| style="background: #F5F5F5; text-align: center;" | --<br />
|-<br />
! style="background: #DCDCDC; text-align: center;" | Type 2<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↓'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5;" |<br />
*'''↓''' [[1,25-dihydroxy vitamin D|1,25 Dihydroxy vitamin D]]<br />
*Normal [[urinary]] [[cAMP]]<br />
*'''↓''' [[Urinary]] [[phosphate]]<br />
|-<br />
! rowspan="2" style="background: #DCDCDC; text-align: center;" |Acrodysostosis<br />
! style="background: #DCDCDC; text-align: center;" |Acrodysostosis type 1<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↓'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; " |<br />
*Multiple hormone resistance<br />
|-<br />
! style="background: #DCDCDC; text-align: center;" |Acrodysostosis type 2<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↓'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; " |<br />
*Multiple hormone resistance<br />
|-<br />
! colspan="2" style="background: #DCDCDC; text-align: center;" |Blomstrand chondrodysplasia<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↓'''<br />
| style="background: #F5F5F5; text-align: center;" |'''↑'''<br />
| style="background: #F5F5F5; " |<br />
* '''↓''' [[Urinary]] [[phosphate]]<br />
* '''↑''' [[Urinary]] [[cAMP]]<br />
|}<br />
<br />
==Differentiating Parathyroid Disorders==<br />
* The main presenting features of [[parathyroid]] disorders are related to [[calcium]] secretion. Accordingly, differentiating [[parathyroid]] disorders from other diseases is mainly dependent to changes in calcium level. Following algorithms are designed to differentiate diseases according to [[hypercalcemia]] and [[hypocalcemia]].<ref name="pmid21812031">{{cite journal |vauthors=Bilezikian JP, Khan A, Potts JT, Brandi ML, Clarke BL, Shoback D, Jüppner H, D'Amour P, Fox J, Rejnmark L, Mosekilde L, Rubin MR, Dempster D, Gafni R, Collins MT, Sliney J, Sanders J |title=Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research |journal=J. Bone Miner. Res. |volume=26 |issue=10 |pages=2317–37 |year=2011 |pmid=21812031 |pmc=3405491 |doi=10.1002/jbmr.483 |url=}}</ref><ref name="pmid8964825">{{cite journal |vauthors=Silverberg SJ, Bilezikian JP |title=Evaluation and management of primary hyperparathyroidism |journal=J. Clin. Endocrinol. Metab. |volume=81 |issue=6 |pages=2036–40 |year=1996 |pmid=8964825 |doi=10.1210/jcem.81.6.8964825 |url=https://watermark.silverchair.com/api/watermark?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAfQwggHwBgkqhkiG9w0BBwagggHhMIIB3QIBADCCAdYGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMs2QB8t_zFXzSZJ4bAgEQgIIBp8fw3_iunlmFW1rMhoY9MDPeg_lHu7iYzuIrfwXHubghqdXOMvdWyttCOOgR3PHFZtE5IkmNB4hRahVQsPzHGwh5kiBmLGp9W8OQwFxrCIH0sBqjOxOiYc_yGAs0ybxF1mEh929-YxivBBC43EW1yFtSmwplSQfAWah7w6yxXbUhV8umq3pGQxqYDClp47IR7TyVeEneWZz85Z7MS80V4c-yZPG1ZPxQR-1kPk3rdji_8bAeXwJKRGScWzKPqSEQvXFWLV4sHwqgTrU53HSkURUJb8u-w4EOHMjtUATJPoGgFsZOcrf_xtPBZmcI_v5G3RO_cJDHueDwQNfRaGIO2ztcToFGmVpER4vGhqfrtr7mXHPNPyUUOa-_KWPE-qxDrUCG8kevm0tM8MButJkAmVdBxrIC4mSd8sAZb3KcfSKt9RUXFJpIiDoOut21ZFEGEU8O7vwjw4RhxridsegEUiCFWCxHftX9qUqELn90AJ2Fg1olxH9jI46KnEJPd7MNYReTvdeX5erBZmXjmP5oCT6vLYUbRLjXxyJQRl-d5N9O0vfTgZ5bbA}}</ref><ref name="pmid686009">{{cite journal |vauthors=Marx SJ, Spiegel AM, Brown EM, Koehler JO, Gardner DG, Brennan MF, Aurbach GD |title=Divalent cation metabolism. Familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism |journal=Am. J. Med. |volume=6http://www.sciencedirect.com/science/article/pii/0002934378908148?via%3Dihub5 |issue=2 |pages=235–42 |year=1978 |pmid=686009 |doi=10.1016/0002-9343(78)90814-8 |url=}}</ref><ref name="pmid18650515">{{cite journal |vauthors=Shoback D |title=Clinical practice. Hypoparathyroidism |journal=N. Engl. J. Med. |volume=359 |issue=4 |pages=391–403 |year=2008 |pmid=18650515 |doi=10.1056/NEJMcp0803050 |url=}}</ref><ref name="pmid11134112">{{cite journal |vauthors=Yamamoto M, Akatsu T, Nagase T, Ogata E |title=Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders? |journal=J. Clin. Endocrinol. Metab. |volume=85 |issue=12 |pages=4583–91 |year=2000 |pmid=11134112 |doi=10.1210/jcem.85.12.7035 |url=}}</ref><ref name="pmid7356229">{{cite journal |vauthors=Marx SJ, Stock JL, Attie MF, Downs RW, Gardner DG, Brown EM, Spiegel AM, Doppman JL, Brennan MF |title=Familial hypocalciuric hypercalcemia: recognition among patients referred after unsuccessful parathyroid exploration |journal=Ann. Intern. Med. |volume=92 |issue=3 |pages=351–6 |year=1980 |pmid=7356229 |doi= |url=}}</ref><ref name="pmid26713296">{{cite journal |vauthors=Mirrakhimov AE |title=Hypercalcemia of Malignancy: An Update on Pathogenesis and Management |journal=N Am J Med Sci |volume=7 |issue=11 |pages=483–93 |year=2015 |pmid=26713296 |pmc=4683803 |doi=10.4103/1947-2714.170600 |url=}}</ref><ref name="pmid1346019">{{cite journal |vauthors=Ratcliffe WA, Hutchesson AC, Bundred NJ, Ratcliffe JG |title=Role of assays for parathyroid-hormone-related protein in investigation of hypercalcaemia |journal=Lancet |volume=339 |issue=8786 |pages=164–7 |year=1992 |pmid=1346019 |doi=10.1016/0140-6736(92)90220-W |url=}}</ref><ref name="pmid7962324">{{cite journal |vauthors=Ikeda K, Ohno H, Hane M, Yokoi H, Okada M, Honma T, Yamada A, Tatsumi Y, Tanaka T, Saitoh T |title=Development of a sensitive two-site immunoradiometric assay for parathyroid hormone-related peptide: evidence for elevated levels in plasma from patients with adult T-cell leukemia/lymphoma and B-cell lymphoma |journal=J. Clin. Endocrinol. Metab. |volume=79 |issue=5 |pages=1322–7 |year=1994 |pmid=7962324 |doi=10.1210/jcem.79.5.7962324 |url=}}</ref><ref name="pmid12679445">{{cite journal |vauthors=Horwitz MJ, Tedesco MB, Sereika SM, Hollis BW, Garcia-Ocaña A, Stewart AF |title=Direct comparison of sustained infusion of human parathyroid hormone-related protein-(1-36) [hPTHrP-(1-36)] versus hPTH-(1-34) on serum calcium, plasma 1,25-dihydroxyvitamin D concentrations, and fractional calcium excretion in healthy human volunteers |journal=J. Clin. Endocrinol. Metab. |volume=88 |issue=4 |pages=1603–9 |year=2003 |pmid=12679445 |doi=10.1210/jc.2002-020773 |url=}}</ref><ref name="pmid2918061">{{cite journal |vauthors=Mallette LE, Khouri K, Zengotita H, Hollis BW, Malini S |title=Lithium treatment increases intact and midregion parathyroid hormone and parathyroid volume |journal=J. Clin. Endocrinol. Metab. |volume=68 |issue=3 |pages=654–60 |year=1989 |pmid=2918061 |doi=10.1210/jcem-68-3-654 |url=}}</ref><ref name="pmid1313547">{{cite journal |vauthors=Jacobus CH, Holick MF, Shao Q, Chen TC, Holm IA, Kolodny JM, Fuleihan GE, Seely EW |title=Hypervitaminosis D associated with drinking milk |journal=N. Engl. J. Med. |volume=326 |issue=18 |pages=1173–7 |year=1992 |pmid=1313547 |doi=10.1056/NEJM199204303261801 |url=}}</ref><ref name="pmid8120527">{{cite journal |vauthors=Hoeck HC, Laurberg G, Laurberg P |title=Hypercalcaemic crisis after excessive topical use of a vitamin D derivative |journal=J. Intern. Med. |volume=235 |issue=3 |pages=281–2 |year=1994 |pmid=8120527 |doi= |url=}}</ref><ref name="pmid9215298">{{cite journal |vauthors=Dusso AS, Kamimura S, Gallieni M, Zhong M, Negrea L, Shapiro S, Slatopolsky E |title=gamma-Interferon-induced resistance to 1,25-(OH)2 D3 in human monocytes and macrophages: a mechanism for the hypercalcemia of various granulomatoses |journal=J. Clin. Endocrinol. Metab. |volume=82 |issue=7 |pages=2222–32 |year=1997 |pmid=9215298 |doi=10.1210/jcem.82.7.4074 |url=}}</ref><ref name="pmid23076042">{{cite journal |vauthors=Levine MA |title=An update on the clinical and molecular characteristics of pseudohypoparathyroidism |journal=Curr Opin Endocrinol Diabetes Obes |volume=19 |issue=6 |pages=443–51 |year=2012 |pmid=23076042 |pmc=3679535 |doi=10.1097/MED.0b013e32835a255c |url=}}</ref><ref name="pmid21816789">{{cite journal |vauthors=Mantovani G |title=Clinical review: Pseudohypoparathyroidism: diagnosis and treatment |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=10 |pages=3020–30 |year=2011 |pmid=21816789 |doi=10.1210/jc.2011-1048 |url=}}</ref><ref name="pmid25891861">{{cite journal |vauthors=Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H |title=A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism |journal=J. Bone Miner. Res. |volume=30 |issue=10 |pages=1803–13 |year=2015 |pmid=25891861 |pmc=4580526 |doi=10.1002/jbmr.2532 |url=}}</ref><ref name="pmid26069819">{{cite journal |vauthors=Jahnen-Dechent W, Ketteler M |title=Magnesium basics |journal=Clin Kidney J |volume=5 |issue=Suppl 1 |pages=i3–i14 |year=2012 |pmid=26069819 |pmc=4455825 |doi=10.1093/ndtplus/sfr163 |url=}}</ref><ref name="pmid227929">{{cite journal |vauthors=Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E |title=Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone |journal=J. Clin. Invest. |volume=64 |issue=5 |pages=1238–44 |year=1979 |pmid=227929 |pmc=371269 |doi=10.1172/JCI109578 |url=}}</ref><ref name="pmid10401014">{{cite journal |vauthors=Navarro JF, Mora C, Jiménez A, Torres A, Macía M, García J |title=Relationship between serum magnesium and parathyroid hormone levels in hemodialysis patients |journal=Am. J. Kidney Dis. |volume=34 |issue=1 |pages=43–8 |year=1999 |pmid=10401014 |doi=10.1053/AJKD03400043 |url=}}</ref><ref name="pmid26131288">{{cite journal |vauthors=Li K, Xu Y |title=Citrate metabolism in blood transfusions and its relationship due to metabolic alkalosis and respiratory acidosis |journal=Int J Clin Exp Med |volume=8 |issue=4 |pages=6578–84 |year=2015 |pmid=26131288 |pmc=4483798 |doi= |url=}}</ref><ref name="pmid3592447">{{cite journal |vauthors=Zaloga GP, Chernow B |title=The multifactorial basis for hypocalcemia during sepsis. Studies of the parathyroid hormone-vitamin D axis |journal=Ann. Intern. Med. |volume=107 |issue=1 |pages=36–41 |year=1987 |pmid=3592447 |doi= |url=}}</ref><ref name="pmid1147452">{{cite journal |vauthors=Weir GC, Lesser PB, Drop LJ, Fischer JE, Warshaw AL |title=The hypocalcemia of acute pancreatitis |journal=Ann. Intern. Med. |volume=83 |issue=2 |pages=185–9 |year=1975 |pmid=1147452 |doi= |url=}}</ref><br />
===Hypercalcemia===<br />
<br><br><br />
{{Family tree/start}}<br />
{{Family tree| | | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | |A01=[[Hypercalcemia]]}}<br />
{{Family tree| | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | |}}<br />
{{Family tree| | | | | | | | | | | | | | | | | B01 | | | | | | | | | | | | | | | |B01=Repeat (Check ionized calcium or [[Hypoparathyroidism laboratory findings#LaboratoryFindings|calcium corrected for albumin]])}}<br />
{{Family tree| | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | |}}<br />
{{Family tree| | | | | | | | | | | | | | | | | C01 | | | | | | | | | | | | | | | |C01=[[Hypercalcemia]] confirmed}}<br />
{{Family tree| | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | |}}<br />
{{Family tree| | | | | | | | | | | | | | | | | D01 | | | | | | | | | | | | | | | |D01=Measure intact [[parathyroid hormone]] ([[PTH]])}}<br />
{{Family tree| | | | | | | |,|-|-|-|-|-|-|-|-|-|+|-|-|-|-|-|-|-|-|.| | | | | | | |}}<br />
{{Family tree| | | | | | | E01 | | | | | | | | E02 | | | | | | | E03 | | | | | | |E01=↑ [[PTH]]|E02=Mildly ↑ [[PTH]]|E03= ↓ [[PTH]]}}<br />
{{Family tree| | | | | | | |!| | | | | | | | | |!| | | | | | | | |!| | | | | | | |}}<br />
{{Family tree| | | | | | | F01 | | | | | | | | F02 | | | | | | | F03 | | | | | | |F01=[[Hyperparathyroidism]]|F02=Urinary calcium creatinine ratio|F03=Measure [[parathyroid hormone-related protein]] ([[PTHrP]]) and [[vitamin D]] metabolites}}<br />
{{Family tree| | | | |,|-|-|^|-|-|.| | | |,|-|-|^|-|-|.| | | | | |!| | | | | | | |}}<br />
{{Family tree| | | | G01 | | | | G02 | | G03 | | | | G04 | | | | |!| | | | | | | |G01=↑ serum [[phosphate]]<br> History of [[renal transplantation]]|G02=↓/Normal [[phosphate]] levels|G03=↑ Urinary calcium creatinine ratio|G04=↓ Urinary calcium creatinine ratio}}<br />
{{Family tree| | | | |!| | | | | |`|-|v|-|'| | | | | |!| | | | | |!| | | | | | | |}}<br />
{{Family tree| | | | H01 | | | | | | H02 | | | | | | H03 | | | | |!| | | | | | | |H01=Tertiary hyperparathyroidism|H02=[[Primary hyperparathyroidism]]|H03= [[Familial hypocalciuric hypercalcemia]]}}<br />
{{Family tree| | | | | | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | |}}<br />
{{Family tree| | | | | |,|-|-|-|-|v|-|-|-|-|-|v|-|-|-|v|-|-|-|-|-|^|-|.| | | | | |}}<br />
{{Family tree| | | | | I01 | | | I02 | | | I03 | | | I04 | | | | | | I05 | | | | |I01=↑ [[PTHrP]]|I02=↑ [[1,25-dihydroxy vitamin D]]|I03=↑ [[25-hydroxy vitamin D]]|I04=↓ [[1,25-dihydroxy vitamin D]]|I05=Normal [[PTHrP]] and [[vitamin D]] metabolites}}<br />
{{Family tree| | | | | |!| | | | |!| | | | |!| | | | |!| | | |,|-|-|-|+|-|-|-|.| |}}<br />
{{Family tree| | | | | J01 | | | J02 | | | J03 | | | J04 | | J05 | | J06 | | J07 |J01=Humoral [[hypercalcemia]] of [[malignancy]]|J02=[[Chest X-ray]], [[ACE]] levels|J03=[[Hypervitaminosis D]]|J04=History of high milk intake,<br>excess [[calcium]] intake for treating [[osteoporosis]] or [[dyspepsia]]|J05=[[Serum protein electrophoresis]]|J06=[[Mammography]]|J07=Check medications}}<br />
{{Family tree| | | | | |!| | | | |!| | | | | | | | | |!| | | |!| | | |!| | | |!| |}}<br />
{{Family tree| | | | | K01 | | | K02 | | | | | | | | K03 | | K04 | | K05 | | |!| |K01=Check for [[malignancies]]|K02=Bilateral hilar [[lymphadenopathy]], ↑ [[ACE]] levels|K03=[[Milk-alkali syndrome]]|K04=[[Multiple myeloma]]|K05=[[Breast cancer]]}}<br />
{{Family tree| | | | | | | | | | |!| | | | | | | | | | | | | | | | |,|-|-|-|-|^|.| | |}}<br />
{{Family tree| | | | | | | | | | L01 | | | | | | | | | | | | | | | |L02 | | | | L03 | |L01=[[Sarcoidosis]]|L02=[[Lithium]] induced hypercalcemia|L03=[[Thiazide diuretic]] induced hypercalcemia}}<br />
{{Family tree/end}}<br />
<br><br><br />
<br />
===Hypocalcemia===<br />
{{Family tree/start}}<br />
{{Family tree| | | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | |A01=[[Hypocalcemia]]}}<br />
{{Family tree| | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | |}}<br />
{{Family tree| | | | | | | | | | | | | | | | | B01 | | | | | | | | | | | | | | | |B01=Repeat (check ionized calcium or [[Hypoparathyroidism laboratory findings#LaboratoryFindings|calcium corrected for albumin]])}}<br />
{{Family tree| | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | |}}<br />
{{Family tree| | | | | | | | | | | | | | | | | C01 | | | | | | | | | | | | | | | |C01=[[Hypocalcemia]] confirmed}}<br />
{{Family tree| | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | |}}<br />
{{Family tree| | | | | | | | | | | | | | | | | D01 | | | | | | | | | | | | | | | |D01=Look for reversible cause}}<br />
{{Family tree| | | | | | | | |,|-|-|-|-|-|-|-|-|^|-|-|-|-|-|-|-|.| | | | | | | |}}<br />
{{Family tree| | | | | | | | E01 | | | | | | | | | | | | | | | E02 | | | | | | |E01=Reversible cause present|E02= Reversible cause absent}}<br />
{{Family tree| | | |,|-|-|-|-|+|-|-|-|-|.| | | | | | | | | | | |!| | | | | | | |}}<br />
{{Family tree| | | F01 | | | F02 | | | F03 | | | | | | | | | | F04 | | | | | | |F01=History of drug use|F02=Serum [[magnesium]] levels|F03=Blood transfusion|F04=Measure intact [[parathyroid hormone]] ([[PTH]])}}<br />
{{Family tree| | | |!| | | | |!| | | | |!| | | | | | | | | | | |!| | | | | | | |}}<br />
{{Family tree| | | G01 | | | G02 | | | G03 | | | | | | | | | | |!| | | | | | | |G01=Drug induced [[hypocalcemia]]<br>([[bisphosphonates]], [[cisplatin]], [[antiepileptics]], [[aminoglycosides]], [[proton pump inhibitors]])|G02=[[Hypomagnesemia]] <br> (sometimes [[hypermagnesemia]])|G03=[[Calcium]] levels reaches normal after [[transfusion]] is stopped}}<br />
{{Family tree| | | | | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | |}}<br />
{{Family tree| | | | | | | | | |,|-|-|-|-|-|-|-|-|-|-|-|-|-|-|-|^|-|-|-|.| | | | |}}<br />
{{Family tree| | | | | | | | | K01 | | | | | | | | | | | | | | | | | | K02 | | | |K01=↓ [[PTH]]|K02=↑ [[PTH]]}}<br />
{{Family tree| | | | | | | | | |!| | | | | | | | | | |,|-|-|-|-|-|v|-|-|^|-|-|v|-|-|-|-|.| | | | | | |}}<br />
{{Family tree| | | | | | | | | H01 | | | | | | | | | H02 | | | | H03 | | | | H04 | | | H05||H01=[[Hypoparathyroidism]]|H02=History of [[chronic kidney disease]]|H03=↓ [[25-hydroxy vitamin D]]|H04=Genetic testing|H05=Inflammatory conditions}}<br />
{{Family tree| |,|-|-|-|-|v|-|-|^|-|v|-|-|-|-|.| | | |!| | | | | |!| | | | |!| | | | |!| | }}<br />
{{Family tree| I01 | | | I02 | | | I03 | | | I04 | | I05 | | | | I06 | | | I07 | | | |!| | |I01=History of anterior neck surgery|I02=Associated with [[autoimmunity]]|I03=Family history present|I04=None of these present|I05=Secondary hyperparathyroidism<br> (may have ↓/normal [[calcium]])|I06=[[Vitamin D deficiency|Hypovitaminosis D]]|I07=[[Pseudohypoparathyroidism|PTH resistance disorders]]}}<br />
{{Family tree| |!| | | | | |!| |,|-|^|.| | | |!| | | | | | | | | | | | | |,|-|-|-|-|-|(| | | |}}<br />
{{Family tree| J01 | | | | | J02 | | J03 | | J04 | | | | | | | | | | | | J05 | | | | J06 | |J01=[[Hypoparathyroidism classification|Post-surgical hypoparathyroidism]]|J02=[[Autoimmune polyendocrine syndrome]]<br>or<br>Isolated autoimmune hypoparathyroidism|J03=Hypoparathyroidism related to other genetic causes|J04=Other causes of hypoparathyroidism should bbe evaluted<br> (for other causes of hypoparathyroidims, click [[Hypoparathyroidism causes|here]])|J05=[[Sepsis]]|J06=[[Acute pancreatitis]]}}<br />
{{Family tree/end}}<br />
<br><br><br />
<br />
==References==<br />
{{Reflist|2}}<br />
{{WH}}<br />
{{WS}}</div>
Sargun Walia
https://www.wikidoc.org/index.php?title=Glycogen_storage_disease&diff=1501588
Glycogen storage disease
2018-11-02T20:21:06Z
<p>Sargun Walia: Undo revision 1501587 by Sargun Walia (talk)</p>
<hr />
<div>__NOTOC__<br />
{{Glycogen storage disease}}<br />
<br />
{{CMG}}; {{AE}} {{Anmol}}, {{CZ}}<br />
<br />
{{SK}}Glycogenosis; dextrinosis<br />
==Overview==<br />
<br />
'''Glycogen storage diseases''' are several [[inborn error of metabolism|inborn errors of metabolism]] that result from [[enzyme]] defects that affect the processing of [[glycogen]] synthesis or breakdown within [[muscle]]s, [[liver]], and other cell types. A total of fourteen glycogen storage diseases have been described which differ from each other on the basis of genotypic and phenotypic heterogenity. Most of the glycogen storage diseases follow an autosomal recessive mode of inheritence. In 1929, Von Gierke was the first to describe glycogen storage disease in a 8 year old girl.<ref>{{Cite journal|last=Gierke E|first=Von|date=1929|title=Hepato-nephro-megalia-glycogenica|url=|journal=Beitr Pathol Anat|volume=82|pages=497–513|via=}}</ref> [[Glucose-6-phosphatase deficiency]] found in [[glycogen storage disease type I]] is identified as first specific [[enzymopathy]] in a [[hereditary disorder]].<ref name="pmid175520012">{{cite journal| author=Ozen H| title=Glycogen storage diseases: new perspectives. | journal=World J Gastroenterol | year= 2007 | volume= 13 | issue= 18 | pages= 2541-53 | pmid=17552001 | doi= | pmc=4146814 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17552001 }}</ref> Majority of glycogen storage diseases are due to deficiency of specific [[enzymes]] involved in metabolism of [[glycogen]] either in [[liver]] or [[muscle]] or both. These deficiencies commonly result in excess of glycogen which deposits in several tissues in the body. There are a wide variety of clinical manifestations of glycogen storage diseases. However, common clinical manifestations of various glycogen storage diseases include [[hypoglycemia]], [[hypotonia]], [[muscle weakness]], [[hepatomegaly]], [[cardiomegaly]], elevated [[creatine kinase]], [[hyperlipidemia]], [[myoglobinuria]], and elevated [[liver aminotransferases]].<br />
<br />
==Pathophysiology==<br />
===Metabolic Pathway===<br />
[[File:GSD.png|center|800px|frame| Metabolic pathways showing defects in various glycogen storage diseases, (ɔ) Image courtesy of WikiDoc.org, by '''"[[User:Anmol Pitliya|Dr. Anmol Pitliya]]"''']]<br />
<br />
===Gross Pathological Findings===<br />
<br />
Images shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission. [http://www.peir.net © PEIR, University of Alabama at Birmingham, Department of Pathology]<br />
<br />
<div align="left"><br />
<gallery heights="175" widths="175"><br />
Image:218243.jpg|Pompe's Disease, Glycogen Storage Disease Type II. Child in crib<br />
Image:227286.jpg|Pompe's Disease, Glycogen Storage Disease Type II<br />
Image:227289.jpg|Pompe's Disease, Glycogen Storage Disease Type II<br />
</gallery><br />
</div><br />
<br />
<div align="left"><br />
<gallery heights="175" widths="175"><br />
Image:227292.jpg|Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient<br />
Image:227295.jpg|Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient<br />
</gallery><br />
</div><br />
<br />
<div align="left"><br />
<gallery heights="175" widths="175"><br />
Image:227298.jpg|Pompe's Disease, Glycogen Storage Disease Type II<br />
Image:227313.jpg|Pompe's Disease, Glycogen Storage Disease Type II<br />
</gallery><br />
</div><br />
<br />
===Microscopic Pathological Findings===<br />
<br />
Images shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission. [http://www.peir.net © PEIR, University of Alabama at Birmingham, Department of Pathology]<br />
<br />
<div align="left"><br />
<gallery heights="175" widths="175"><br />
Image:214344.jpg|Muscle: Glycogen Storage Disease<br />
Image:214346.jpg|Muscle: Glycogen Storage Disease<br />
Image:237571.jpg|Nerve: Glycogen Storage Disease Macrophages; Longitudinal Section of Peripheral Nerve<br />
</gallery><br />
</div><br />
<br />
==Differentiating various Glycogen Storage Diseases==<br />
{|<br />
! style="background:#4479BA; color: #FFFFFF;" colspan="15" align="center" + | Differentiating Glycogen Storage Diseases<br />
|-<br />
! style="background:#4479BA; color: #FFFFFF;" colspan="3" align="center" rowspan="2" + |Glycogen storage disease<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" rowspan="2" + |Enzyme deficiency<br />
! style="background:#4479BA; color: #FFFFFF;" colspan="3" align="center" + |Genetics<br />
! style="background:#4479BA; color: #FFFFFF;" colspan="2" align="center" + |History and symptoms<br />
! style="background:#4479BA; color: #FFFFFF;" colspan="2" align="center" + |Physical examination<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Laboratory findings<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Imaging<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" rowspan="2" + |Other features<br />
|-<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Gene mutation<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Inheritance<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Chromosome<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Hypoglycemia<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Muscle weakness<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Hypotonia<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Hepatomegaly<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Elevated CK<br />
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Cardiomegaly<br />
|-<br />
| style="background:#DCDCDC;" align="center" rowspan="2" + |[[Glycogen storage disease type I|'''Glycogen storage disease type I''']]<ref name="pmid10322403">{{cite journal| author=Mansfield BC| title=Molecular Genetics of Type 1 Glycogen Storage Diseases. | journal=Trends Endocrinol Metab | year= 1999 | volume= 10 | issue= 3 | pages= 104-113 | pmid=10322403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10322403 }} </ref><ref name="pmid17552001">{{cite journal| author=Ozen H| title=Glycogen storage diseases: new perspectives. | journal=World J Gastroenterol | year= 2007 | volume= 13 | issue= 18 | pages= 2541-53 | pmid=17552001 | doi= | pmc=4146814 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17552001 }} </ref><ref name="pmid21599942">{{cite journal| author=Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A et al.| title=Glucose-6-phosphatase deficiency. | journal=Orphanet J Rare Dis | year= 2011 | volume= 6 | issue= | pages= 27 | pmid=21599942 | doi=10.1186/1750-1172-6-27 | pmc=3118311 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21599942 }} </ref><ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref><ref name="pmid12373567">{{cite journal |vauthors=Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP |title=Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I) |journal=Eur. J. Pediatr. |volume=161 Suppl 1 |issue= |pages=S20–34 |year=2002 |pmid=12373567 |doi=10.1007/s00431-002-0999-4 |url=}}</ref><ref>Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/</ref><ref>{{cite book | last = Griggs | first = Robert | title = Evaluation and treatment of myopathies | publisher = Oxford University Press | location = Oxford | year = 2014 | isbn = 9780199873944 }}</ref><br />
| style="background:#DCDCDC;" align="center" rowspan="2" + |[[Von Gierke's disease|'''Von Gierke's disease''']]<br />
| style="background:#DCDCDC;" align="center" + |'''GSD type Ia'''<br />
| style="background:#F5F5F5;" align="center" + |[[Glucose-6-phosphatase]]<br />
| style="background:#F5F5F5;" align="center" + |[[G6PC]] [[gene mutation]] <br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + |17q21<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | -<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | -<br />
| style="background:#F5F5F5;" rowspan="2" + |<br />
* [[Lactic acidosis]]<br />
* [[Hyperlipidemia]]<br />
* [[Hyperuricemia]]<br />
|-<br />
| style="background:#DCDCDC;" align="center" + |'''GSD type Ib'''<br />
| style="background:#F5F5F5;" align="center" + | [[Microsomal]] [[glucose-6-phosphate]] [[Membrane transport protein|transporter]]<br />
| style="background:#F5F5F5;" align="center" + | [[SLC37A4]] [[gene mutation]]<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + |11q23<br />
|-<br />
| style="background:#DCDCDC;" align="center" rowspan="2" + |[[Glycogen storage disease type II|'''Glycogen storage disease type II''']]<ref>Leslie N, Bailey L. Pompe Disease. 2007 Aug 31 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1261/</ref><ref name="pmid17915568">{{cite journal| author=Di Rocco M, Buzzi D, Tarò M| title=Glycogen storage disease type II: clinical overview. | journal=Acta Myol | year= 2007 | volume= 26 | issue= 1 | pages= 42-4 | pmid=17915568 | doi= | pmc=2949314 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17915568 }} </ref><ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883 }} </ref><ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283 }} </ref><ref name="pmid10931430">{{cite journal| author=Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F| title=Identification of two subtypes of infantile acid maltase deficiency. | journal=J Pediatr | year= 2000 | volume= 137 | issue= 2 | pages= 283-5 | pmid=10931430 | doi=10.1067/mpd.2000.107112 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10931430 }} </ref><ref name="pmid2111708">{{cite journal| author=Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R| title=Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. | journal=DNA Cell Biol | year= 1990 | volume= 9 | issue= 2 | pages= 85-94 | pmid=2111708 | doi=10.1089/dna.1990.9.85 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2111708 }} </ref><ref name="pmid3049072">{{cite journal| author=Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA| title=Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. | journal=EMBO J | year= 1988 | volume= 7 | issue= 6 | pages= 1697-704 | pmid=3049072 | doi= | pmc=457155 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3049072 }} </ref><ref name="pmid2268276">{{cite journal| author=Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA| title=Characterization of the human lysosomal alpha-glucosidase gene. | journal=Biochem J | year= 1990 | volume= 272 | issue= 2 | pages= 493-7 | pmid=2268276 | doi= | pmc=1149727 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2268276 }} </ref><ref name="pmid8786092">{{cite journal| author=Kuo WL, Hirschhorn R, Huie ML, Hirschhorn K| title=Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization. | journal=Hum Genet | year= 1996 | volume= 97 | issue= 3 | pages= 404-6 | pmid=8786092 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8786092 }} </ref><br />
| style="background:#DCDCDC;" align="center" rowspan="2" + |[[Pompe disease|'''Pompe disease''']]<br />
| style="background:#DCDCDC;" align="center" + |'''Infantile onset'''<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + |[[Acid alpha-glucosidase]]<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + |GAA gene<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + |17q25<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" rowspan="2" + |<br />
* Elevated [[LDH]]<br />
* Elevated [[liver aminotransferases]]<br />
* Elevated urinary glc4<br />
|-<br />
| style="background:#DCDCDC;" align="center" + |'''Late onset'''<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +/-<br />
|-<br />
| style="background:#DCDCDC;" align="center" rowspan="2" + |[[Glycogen storage disease type III|'''Glycogen storage disease type III''']]<ref name="pmid8755644">{{cite journal| author=Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT| title=Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. | journal=J Clin Invest | year= 1996 | volume= 98 | issue= 2 | pages= 352-7 | pmid=8755644 | doi=10.1172/JCI118799 | pmc=507437 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8755644 }} </ref><ref name="pmid2295969">{{cite journal| author=Ding JH, de Barsy T, Brown BI, Coleman RA, Chen YT| title=Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. | journal=J Pediatr | year= 1990 | volume= 116 | issue= 1 | pages= 95-100 | pmid=2295969 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2295969 }} </ref><ref name="pmid19834502">{{cite journal| author=Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T et al.| title=Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. | journal=J Hum Genet | year= 2009 | volume= 54 | issue= 11 | pages= 681-6 | pmid=19834502 | doi=10.1038/jhg.2009.100 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19834502 }} </ref><ref name="KishnaniAustin2010">{{cite journal|last1=Kishnani|first1=Priya S|last2=Austin|first2=Stephanie L|last3=Arn|first3=Pamela|last4=Bali|first4=Deeksha S|last5=Boney|first5=Anne|last6=Case|first6=Laura E|last7=Chung|first7=Wendy K|last8=Desai|first8=Dev M|last9=El-Gharbawy|first9=Areeg|last10=Haller|first10=Ronald|last11=Smit|first11=G Peter A|last12=Smith|first12=Alastair D|last13=Hobson-Webb|first13=Lisa D|last14=Wechsler|first14=Stephanie Burns|last15=Weinstein|first15=David A|last16=Watson|first16=Michael S|title=Glycogen Storage Disease Type III diagnosis and management guidelines|journal=Genetics in Medicine|volume=12|issue=7|year=2010|pages=446–463|issn=1098-3600|doi=10.1097/GIM.0b013e3181e655b6}}</ref><ref>Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/</ref><ref name="pmid12618563">{{cite journal| author=Wolfsdorf JI, Weinstein DA| title=Glycogen storage diseases. | journal=Rev Endocr Metab Disord | year= 2003 | volume= 4 | issue= 1 | pages= 95-102 | pmid=12618563 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12618563 }} </ref><br />
| style="background:#DCDCDC;" align="center" rowspan="2" + |[[Cori disease|'''Cori disease''']]<br />
| style="background:#DCDCDC;" align="center" + |'''GSD type IIIa'''<br />
| style="background:#F5F5F5;" align="center" + |[[Debranching enzyme]] (deficiency in muscle and liver)<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + |AGL [[gene mutation]] <br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + |1p21<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +<br />
| style="background:#F5F5F5;" rowspan="2" + |<br />
* [[Ketosis]]<br />
* [[Hyperlipidemia]]<br />
* Elevated [[liver aminotransferases]]<br />
|-<br />
| style="background:#DCDCDC;" align="center" + |'''GSD type IIIb'''<br />
| style="background:#F5F5F5;" align="center" + |[[Debranching enzyme]] (deficiency in liver only)<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
|-<br />
| style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type IV|'''Glycogen storage disease type IV''']]<ref name="pmid15452297">{{cite journal| author=Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA et al.| title=Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). | journal=Neurology | year= 2004 | volume= 63 | issue= 6 | pages= 1053-8 | pmid=15452297 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15452297 }} </ref><ref name="pmid17915577">{{cite journal| author=Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S| title=Neuromuscular forms of glycogen branching enzyme deficiency. | journal=Acta Myol | year= 2007 | volume= 26 | issue= 1 | pages= 75-8 | pmid=17915577 | doi= | pmc=2949312 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17915577 }} </ref><ref name="pmid5229990">{{cite journal| author=Brown BI, Brown DH| title=Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. | journal=Proc Natl Acad Sci U S A | year= 1966 | volume= 56 | issue= 2 | pages= 725-9 | pmid=5229990 | doi= | pmc=224432 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5229990 }} </ref><ref name="pmid8830177">{{cite journal| author=McConkie-Rosell A, Wilson C, Piccoli DA, Boyle J, DeClue T, Kishnani P et al.| title=Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. | journal=J Inherit Metab Dis | year= 1996 | volume= 19 | issue= 1 | pages= 51-8 | pmid=8830177 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8830177 }} </ref><ref>Magoulas PL, El-Hattab AW. Glycogen Storage Disease Type IV. 2013 Jan 3. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK115333/</ref><br />
| style="background:#DCDCDC;" colspan="2" align="center" + |[[Andersen's disease|'''Andersen's disease''']]<br />
| style="background:#F5F5F5;" align="center" + |Branching enzyme<br />
| style="background:#F5F5F5;" align="center" + | GBE1 gene mutation<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + |3p12<br />
| style="background:#F5F5F5;" align="center" + | +/-<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
|-<br />
| style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type V|'''Glycogen storage disease type V''']]<ref name="pmid24540673">{{cite journal| author=McARDLE B| title=Myopathy due to a defect in muscle glycogen breakdown. | journal=Clin Sci | year= 1951 | volume= 10 | issue= 1 | pages= 13-35 | pmid=24540673 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24540673 }} </ref><ref name="pmid14442994">{{cite journal| author=SCHMID R, MAHLER R| title=Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. | journal=J Clin Invest | year= 1959 | volume= 38 | issue= | pages= 2044-58 | pmid=14442994 | doi=10.1172/JCI103983 | pmc=441792 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14442994 }} </ref><ref name="pmid16590445">{{cite journal| author=Mommaerts WF, Illingworth B, Pearson CM, Guillory RJ, Seraydarian K| title=A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE. | journal=Proc Natl Acad Sci U S A | year= 1959 | volume= 45 | issue= 6 | pages= 791-7 | pmid=16590445 | doi= | pmc=222638 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16590445 }} </ref><ref name="pmid13733779">{{cite journal| author=PEARSON CM, RIMER DG, MOMMAERTS WF| title=A metabolic myopathy due to absence of muscle phosphorylase. | journal=Am J Med | year= 1961 | volume= 30 | issue= | pages= 502-17 | pmid=13733779 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13733779 }} </ref><ref name="pmid4502558">{{cite journal| author=Grünfeld JP, Ganeval D, Chanard J, Fardeau M, Dreyfus JC| title=Acute renal failure in McArdle's disease. Report of two cases. | journal=N Engl J Med | year= 1972 | volume= 286 | issue= 23 | pages= 1237-41 | pmid=4502558 | doi=10.1056/NEJM197206082862304 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4502558 }} </ref><ref name="pmid3476861">{{cite journal| author=Schmidt B, Servidei S, Gabbai AA, Silva AC, de Sousa Bulle de Oliveira A, DiMauro S| title=McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote. | journal=Neurology | year= 1987 | volume= 37 | issue= 9 | pages= 1558-61 | pmid=3476861 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3476861 }} </ref><ref>Martín MA, Lucía A, Arenas J, et al. Glycogen Storage Disease Type V. 2006 Apr 19 [Updated 2014 Jun 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1344/</ref><br />
| style="background:#DCDCDC;" colspan="2" align="center" + |[[McArdle disease|'''McArdle disease''']]<br />
| style="background:#F5F5F5;" align="center" + |Muscle [[glycogen phosphorylase]]<br />
| style="background:#F5F5F5;" align="center" + |PYGM gene mutation <br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + |11q13<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" + |<br />
* [[Myoglobinuria]], may result in [[renal failure]]<br />
|-<br />
| style="background:#DCDCDC;" align="center" rowspan="2" + |[[Glycogen storage disease type VI|'''Glycogen storage disease type VI''']]<ref name="pmid5904467">{{cite journal| author=Wallis PG, Sidbury JB, Harris RC| title=Hepatic phosphorylase defect. Studies on peripheral blood. | journal=Am J Dis Child | year= 1966 | volume= 111 | issue= 3 | pages= 278-82 | pmid=5904467 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5904467 }} </ref><ref name="pmid25266922">{{cite journal| author=Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J et al.| title=The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. | journal=Mol Genet Metab | year= 2014 | volume= 113 | issue= 3 | pages= 171-6 | pmid=25266922 | doi=10.1016/j.ymgme.2014.09.005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25266922 }} </ref><ref name="pmid9529348">{{cite journal| author=Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW| title=Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. | journal=Am J Hum Genet | year= 1998 | volume= 62 | issue= 4 | pages= 785-91 | pmid=9529348 | doi= | pmc=1377030 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9529348 }} </ref><ref name="pmid9536091">{{cite journal| author=Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG| title=Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. | journal=Hum Mol Genet | year= 1998 | volume= 7 | issue= 5 | pages= 865-70 | pmid=9536091 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9536091 }} </ref><ref>Dagli AI, Weinstein DA. Glycogen Storage Disease Type VI. 2009 Apr 23 [Updated 2011 May 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK5941/</ref><br />
| style="background:#DCDCDC;" align="center" rowspan="2" + |[[Hers' disease|'''Hers' disease''']]<br />
| style="background:#DCDCDC;" align="center" + |'''Autosomal''' <br />
| style="background:#F5F5F5;" align="center" rowspan="2" + |Liver [[glycogen phosphorylase]]<br />
| style="background:#F5F5F5;" align="center" + | PYGL gene mutation<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + |14q22<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +/-<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +/-<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | +<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | -<br />
| style="background:#F5F5F5;" align="center" rowspan="2" + | -<br />
| style="background:#F5F5F5;" rowspan="2" + |<br />
* [[Hyperlipidemia]]<br />
* Elevated [[liver aminotransferases]]<br />
|-<br />
| style="background:#DCDCDC;" align="center" + |'''X-linked''' <br />
| style="background:#F5F5F5;" align="center" + | PYGL gene mutation<br />
| style="background:#F5F5F5;" align="center" + |[[X-linked recessive]]<br />
| style="background:#F5F5F5;" align="center" + |X<br />
|-<br />
| style="background:#DCDCDC;" align="center" + |[[Glycogen storage disease type VII|'''Glycogen storage disease type VII''']]<ref name="pmid7550225">{{cite journal| author=Raben N, Sherman JB| title=Mutations in muscle phosphofructokinase gene. | journal=Hum Mutat | year= 1995 | volume= 6 | issue= 1 | pages= 1-6 | pmid=7550225 | doi=10.1002/humu.1380060102 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7550225 }} </ref><ref name="pmid14339001">{{cite journal| author=TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M| title=PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS. | journal=Biochem Biophys Res Commun | year= 1965 | volume= 19 | issue= | pages= 517-23 | pmid=14339001 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14339001 }} </ref><ref name="pmid4228297">{{cite journal| author=Layzer RB, Rowland LP, Ranney HM| title=Muscle phosphofructokinase deficiency. | journal=Arch Neurol | year= 1967 | volume= 17 | issue= 5 | pages= 512-23 | pmid=4228297 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4228297 }} </ref><ref name="pmid4228753">{{cite journal| author=Satoyoshi E, Kowa H| title=A myopathy due to glycolytic abnormality. | journal=Arch Neurol | year= 1967 | volume= 17 | issue= 3 | pages= 248-56 | pmid=4228753 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4228753 }} </ref><ref name="pmid4258222">{{cite journal| author=Waterbury L, Frenkel EP| title=Hereditary nonspherocytic hemolysis with erythrocyte phosphofructokinase deficiency. | journal=Blood | year= 1972 | volume= 39 | issue= 3 | pages= 415-25 | pmid=4258222 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4258222 }} </ref><ref name="pmid6444532">{{cite journal| author=Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S| title=The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. | journal=Blood | year= 1980 | volume= 55 | issue= 4 | pages= 629-35 | pmid=6444532 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6444532 }} </ref><br />
| style="background:#DCDCDC;" colspan="2" align="center" + |[[Tarui's disease|'''Tarui's disease''']]<br />
| style="background:#F5F5F5;" align="center" + |Muscle [[phosphofructokinase]]<br />
| style="background:#F5F5F5;" align="center" + |PFKM gene mutation<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + |12q13<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" + |<br />
* [[Reticulocyte|Reticulocytosis]]<br />
* [[Hyperuricemia]]<br />
* [[Myoglobinuria]]<br />
* [[Hemolytic anemia]]<br />
|-<br />
| style="background:#DCDCDC;" colspan="2" align="center" rowspan="2" + |'''Glycogen storage disease type IX'''<ref name="pmid17689125">{{cite journal| author=Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P et al.| title=Glycogen storage disease type IX: High variability in clinical phenotype. | journal=Mol Genet Metab | year= 2007 | volume= 92 | issue= 1-2 | pages= 88-99 | pmid=17689125 | doi=10.1016/j.ymgme.2007.06.007 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17689125 }} </ref><ref name="pmid25266922">{{cite journal| author=Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J et al.| title=The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. | journal=Mol Genet Metab | year= 2014 | volume= 113 | issue= 3 | pages= 171-6 | pmid=25266922 | doi=10.1016/j.ymgme.2014.09.005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25266922 }} </ref><ref>Goldstein J, Austin S, Kishnani P, et al. Phosphorylase Kinase Deficiency. 2011 May 31. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55061/</ref><br />
| style="background:#DCDCDC;" align="center" + |'''GSD type IXa'''<ref name="pmid3859203">{{cite journal| author=Keating JP, Brown BI, White NH, DiMauro S| title=X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation. | journal=Am J Dis Child | year= 1985 | volume= 139 | issue= 6 | pages= 609-13 | pmid=3859203 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3859203 }} </ref><ref name="pmid7959740">{{cite journal| author=Hendrickx J, Coucke P, Hors-Cayla MC, Smit GP, Shin YS, Deutsch J et al.| title=Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). | journal=Genomics | year= 1994 | volume= 21 | issue= 3 | pages= 620-5 | pmid=7959740 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7959740 }} </ref><ref name="pmid4518931">{{cite journal| author=Schimke RN, Zakheim RM, Corder RC, Hug G| title=Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. | journal=J Pediatr | year= 1973 | volume= 83 | issue= 6 | pages= 1031-4 | pmid=4518931 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4518931 }} </ref><ref name="pmid2303074">{{cite journal| author=Willems PJ, Gerver WJ, Berger R, Fernandes J| title=The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. | journal=Eur J Pediatr | year= 1990 | volume= 149 | issue= 4 | pages= 268-71 | pmid=2303074 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2303074 }} </ref><ref name="pmid9835437">{{cite journal| author=Hendrickx J, Bosshard NU, Willems P, Gitzelmann R| title=Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. | journal=Eur J Pediatr | year= 1998 | volume= 157 | issue= 11 | pages= 919-23 | pmid=9835437 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9835437 }} </ref><br />
| style="background:#F5F5F5;" align="center" + |Phosphorylase b kinase (deficiency in liver only)<br />
| style="background:#F5F5F5;" align="center" + |[[PHKA2]] gene mutation<br />
| style="background:#F5F5F5;" align="center" + |[[X-linked recessive]]<br />
| style="background:#F5F5F5;" align="center" + |Xp22<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" + |<br />
* [[Hyperlipidemia]]<br />
* Elevated [[liver aminotransferases]]<br />
* [[Hyperuricemia]]<br />
* Fasting [[ketosis]]<br />
|-<br />
| style="background:#DCDCDC;" align="center" + |'''GSD type IXb'''<ref name="pmid6938920">{{cite journal| author=Bashan N, Iancu TC, Lerner A, Fraser D, Potashnik R, Moses SW| title=Glycogenosis due to liver and muscle phosphorylase kinase deficiency. | journal=Pediatr Res | year= 1981 | volume= 15 | issue= 4 Pt 1 | pages= 299-303 | pmid=6938920 | doi=10.1203/00006450-198104000-00002 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6938920 }} </ref><ref name="pmid6422139">{{cite journal| author=Gray RG, Kumar D, Whitfield AE| title=Glycogen phosphorylase b kinase deficiency in three siblings. | journal=J Inherit Metab Dis | year= 1983 | volume= 6 | issue= 3 | pages= 107 | pmid=6422139 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6422139 }} </ref><ref name="pmid9215682">{{cite journal| author=Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS et al.| title=Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). | journal=Hum Mol Genet | year= 1997 | volume= 6 | issue= 7 | pages= 1109-15 | pmid=9215682 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9215682 }} </ref><br />
| style="background:#F5F5F5;" align="center" + |Phosphorylase b kinase (deficiency in liver and muscle)<br />
| style="background:#F5F5F5;" align="center" + |[[PHKB]] gene mutation<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + |16q12<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" + |<br />
* [[Hyperlipidemia]]<br />
* Elevated [[liver aminotransferases]]<br />
|-<br />
| style="background:#DCDCDC;" colspan="3" align="center" + |'''Glycogen storage disease type X'''<ref name="pmid10545043">{{cite journal| author=Hadjigeorgiou GM, Kawashima N, Bruno C, Andreu AL, Sue CM, Rigden DJ et al.| title=Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. | journal=Neuromuscul Disord | year= 1999 | volume= 9 | issue= 6-7 | pages= 399-402 | pmid=10545043 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10545043 }} </ref><ref name="pmid8447317">{{cite journal| author=Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S| title=The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. | journal=Am J Hum Genet | year= 1993 | volume= 52 | issue= 3 | pages= 472-7 | pmid=8447317 | doi= | pmc=1682163 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8447317 }} </ref><ref name="pmid2987758">{{cite journal| author=Kissel JT, Beam W, Bresolin N, Gibbons G, DiMauro S, Mendell JR| title=Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test. | journal=Neurology | year= 1985 | volume= 35 | issue= 6 | pages= 828-33 | pmid=2987758 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2987758 }} </ref><ref name="pmid6262916">{{cite journal| author=DiMauro S, Miranda AF, Khan S, Gitlin K, Friedman R| title=Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. | journal=Science | year= 1981 | volume= 212 | issue= 4500 | pages= 1277-9 | pmid=6262916 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6262916 }} </ref><br />
| style="background:#F5F5F5;" align="center" + |[[Phosphoglycerate mutase]]<br />
| style="background:#F5F5F5;" align="center" + |[[PGAM2]] gene mutation<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + |7p13<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" + |<br />
* [[Myoglobinuria]]<br />
* [[Gout]] (tophy)<br />
* Severe [[coronary]] [[arteriosclerosis]]<br />
|-<br />
| style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XI'''<ref name="pmid3789777">{{cite journal| author=Yoshikuni K, Tagami H, Yamada M, Sudo K, Kanno T| title=Erythematosquamous skin lesions in hereditary lactate dehydrogenase M-subunit deficiency. | journal=Arch Dermatol | year= 1986 | volume= 122 | issue= 12 | pages= 1420-4 | pmid=3789777 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3789777 }} </ref><ref name="pmid3383424">{{cite journal| author=Kanno T, Sudo K, Maekawa M, Nishimura Y, Ukita M, Fukutake K| title=Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy. | journal=Clin Chim Acta | year= 1988 | volume= 173 | issue= 1 | pages= 89-98 | pmid=3383424 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3383424 }} </ref><ref name="pmid3092644">{{cite journal| author=Maekawa M, Sudo K, Kanno T| title=Immunochemical studies on lactate dehydrogenase A subunit deficiencies. | journal=Am J Hum Genet | year= 1986 | volume= 39 | issue= 2 | pages= 232-8 | pmid=3092644 | doi= | pmc=1683931 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3092644 }} </ref><ref name="pmid1999544">{{cite journal| author=Takayasu S, Fujiwara S, Waki T| title=Hereditary lactate dehydrogenase M-subunit deficiency: lactate dehydrogenase activity in skin lesions and in hair follicles. | journal=J Am Acad Dermatol | year= 1991 | volume= 24 | issue= 2 Pt 2 | pages= 339-42 | pmid=1999544 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1999544 }} </ref><br />
| style="background:#DCDCDC;" colspan="2" align="center" + |'''Lactate dehydrogenase A deficiency'''<br />
| style="background:#F5F5F5;" align="center" + |[[Lactate dehydrogenase A]]<br />
| style="background:#F5F5F5;" align="center" + |LDHA gene mutation<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + |11p15<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" + |<br />
* Muscle [[stiffness]]<br />
* [[Lactic acidosis]]<br />
* [[Myoglobinuria]]<br />
* Easy [[fatigue]]<br />
|-<br />
| style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type XII'''<ref name="pmid2825199">{{cite journal| author=Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K| title=Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. | journal=Proc Natl Acad Sci U S A | year= 1987 | volume= 84 | issue= 23 | pages= 8623-7 | pmid=2825199 | doi= | pmc=299598 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2825199 }} </ref><ref name="pmid4788792">{{cite journal| author=Beutler E, Scott S, Bishop A, Margolis N, Matsumoto F, Kuhl W| title=Red cell aldolase deficiency and hemolytic anemia: a new syndrome. | journal=Trans Assoc Am Physicians | year= 1973 | volume= 86 | issue= | pages= 154-66 | pmid=4788792 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4788792 }} </ref><ref name="pmid8598869">{{cite journal| author=Kreuder J, Borkhardt A, Repp R, Pekrun A, Göttsche B, Gottschalk U et al.| title=Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. | journal=N Engl J Med | year= 1996 | volume= 334 | issue= 17 | pages= 1100-4 | pmid=8598869 | doi=10.1056/NEJM199604253341705 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8598869 }} </ref><ref name="pmid3688035">{{cite journal| author=Hurst JA, Baraitser M, Winter RM| title=A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency. | journal=Am J Med Genet | year= 1987 | volume= 28 | issue= 4 | pages= 965-70 | pmid=3688035 | doi=10.1002/ajmg.1320280423 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3688035 }} </ref><br />
| style="background:#DCDCDC;" colspan="2" align="center" + |'''Aldolase A deficiency'''<br />
| style="background:#F5F5F5;" align="center" + |[[Aldolase A]]<br />
| style="background:#F5F5F5;" align="center" + |ALDOA gene mutation<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + |16p11<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" + |<br />
* [[Hemolytic anemia]]<br />
* [[Splenomegaly]]<br />
|-<br />
| style="background:#DCDCDC;" colspan="3" align="center" + |'''Glycogen storage disease type XIII<ref name="pmid11506403">{{cite journal| author=Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S et al.| title=Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. | journal=Ann Neurol | year= 2001 | volume= 50 | issue= 2 | pages= 202-7 | pmid=11506403 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11506403 }} </ref>'''<br />
| style="background:#F5F5F5;" align="center" + |Beta-enolase<br />
| style="background:#F5F5F5;" align="center" + | ENO3 gene mutation<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + |17p13<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
|-<br />
| style="background:#DCDCDC;" colspan="3" align="center" + |'''Glycogen storage disease type XIV'''<ref name="pmid24499211">{{cite journal| author=Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S et al.| title=Multiple phenotypes in phosphoglucomutase 1 deficiency. | journal=N Engl J Med | year= 2014 | volume= 370 | issue= 6 | pages= 533-42 | pmid=24499211 | doi=10.1056/NEJMoa1206605 | pmc=4373661 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24499211 }} </ref><ref name="pmid19625727">{{cite journal| author=Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G et al.| title=Muscle glycogenosis due to phosphoglucomutase 1 deficiency. | journal=N Engl J Med | year= 2009 | volume= 361 | issue= 4 | pages= 425-7 | pmid=19625727 | doi=10.1056/NEJMc0901158 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19625727 }} </ref><br />
| style="background:#F5F5F5;" align="center" + |[[Phosphoglucomutase]] type 2<br />
| style="background:#F5F5F5;" align="center" + |[[PGM1]] gene mutation<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + |1p31<br />
| style="background:#F5F5F5;" align="center" + | +/-<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" + |<br />
* Elevated [[liver aminotransferases]]<br />
|-<br />
| style="background:#DCDCDC;" align="center" + |'''Glycogen storage disease type 0'''<ref name="pmid9691087">{{cite journal| author=Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P et al.| title=Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. | journal=J Clin Invest | year= 1998 | volume= 102 | issue= 3 | pages= 507-15 | pmid=9691087 | doi=10.1172/JCI2890 | pmc=508911 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9691087 }} </ref><ref name="pmid12794686">{{cite journal| author=Laberge AM, Mitchell GA, van de Werve G, Lambert M| title=Long-term follow-up of a new case of liver glycogen synthase deficiency. | journal=Am J Med Genet A | year= 2003 | volume= 120A | issue= 1 | pages= 19-22 | pmid=12794686 | doi=10.1002/ajmg.a.20110 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12794686 }} </ref><ref name="pmid8831078">{{cite journal| author=Gitzelmann R, Spycher MA, Feil G, Müller J, Seilnacht B, Stahl M et al.| title=Liver glycogen synthase deficiency: a rarely diagnosed entity. | journal=Eur J Pediatr | year= 1996 | volume= 155 | issue= 7 | pages= 561-7 | pmid=8831078 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8831078 }} </ref><ref name="pmid11483824">{{cite journal| author=Rutledge SL, Atchison J, Bosshard NU, Steinmann B| title=Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia. | journal=Pediatrics | year= 2001 | volume= 108 | issue= 2 | pages= 495-7 | pmid=11483824 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11483824 }} </ref><br />
| style="background:#DCDCDC;" colspan="2" align="center" + |'''Lewis' disease'''<br />
| style="background:#F5F5F5;" align="center" + |Hepatic [[glycogen synthase]]<br />
| style="background:#F5F5F5;" align="center" + |GYS2 gene mutation (liver)<br />
| style="background:#F5F5F5;" align="center" + |[[Autosomal recessive]]<br />
| style="background:#F5F5F5;" align="center" + |12p12<br />
| style="background:#F5F5F5;" align="center" + | +<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" align="center" + | -<br />
| style="background:#F5F5F5;" + |<br />
* Fasting [[hypoglycemia]] and [[ketosis]]<br />
* Postprandial [[hyperglycemia]] and [[Lactic acidosis (patient information)|lactic acidosis]]<br />
|}<br />
<br />
==Heart & Liver in Glycogen Storage Disease==<br />
<br />
{{#ev:youtube|inSkXkNK_dE}}<br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
{{Metabolic pathology}}<br />
[[Category:Endocrinology]]<br />
[[Category:Hepatology]]<br />
[[Category:Gastroenterology]]<br />
[[Category:Pediatrics]]<br />
[[Category:Up-To-Date]]<br />
[[Category:Genetic disorders]]<br />
[[Category:Metabolic disorders]]<br />
<br />
[[de:Glykogenspeicherkrankheit]]<br />
[[es:Glucogenosis]]<br />
[[fr:Maladie génétique du métabolisme des glucides]]<br />
[[it:Glicogenosi]]<br />
[[ja:糖原病]]<br />
[[pl:Choroby spichrzeniowe glikogenu]]<br />
[[pt:Glicogenose]]<br />
[[ru:Гликогенозы]]<br />
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Sargun Walia