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* Diagnosis can be made on clinical manifestations and can be confirmed by Doppler ultrasound and magnetic resonance angiography. Management depends on clinical manifestations.<ref name="pmid28458832"></ref><ref name="pmid29930667"></ref><ref name="pmid29452831">{{cite journal |vauthors=Lei H, Guan X, Han H, Qian X, Zhou X, Zhang X, Tian L |title=Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report |journal=Sex Med |volume=6 |issue=2 |pages=180–183 |date=June 2018 |pmid=29452831 |pmc=5960021 |doi=10.1016/j.esxm.2017.12.001 |url=}}</ref> | * Diagnosis can be made on clinical manifestations and can be confirmed by Doppler ultrasound and magnetic resonance angiography. Management depends on clinical manifestations.<ref name="pmid28458832"></ref><ref name="pmid29930667"></ref><ref name="pmid29452831">{{cite journal |vauthors=Lei H, Guan X, Han H, Qian X, Zhou X, Zhang X, Tian L |title=Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report |journal=Sex Med |volume=6 |issue=2 |pages=180–183 |date=June 2018 |pmid=29452831 |pmc=5960021 |doi=10.1016/j.esxm.2017.12.001 |url=}}</ref> | ||
===Parkes Weber syndrome=== | ===Parkes Weber syndrome=== | ||
* Characterized by a cutaneous flush with underlying multiple micro-AVFs (arteriovenous fistulas), in association with soft tissue and skeletal hypertrophy of the affected limb. Clinical Presentation enlarged arteries and veins, capillary or venous malformations, cutaneous blush, arteriovenous fistulas, and enlargement of limb. | |||
* Mutation in the RASA1 gene has been found to be associated with this syndrome. | |||
* To learn more about Parkes Weber syndrome, click here. | |||
==References== | ==References== | ||
Revision as of 15:45, 4 October 2018
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hannan Javed, M.D.[2]
Overview
| Vascular Anomalies | ||||
|---|---|---|---|---|
| Vascular Tumors | Vascular Malformations | |||
| Benign
Locally aggressive or Borderline Malignant |
Simple | Combined° | of major named vessels | associated with other anomalies |
| Capillary malformations
Lymphatic malformations Venous malformations Arteriovenous malformations* Arteriovenous fistula* |
Capillary venous malformation , Capillary lymphatic malformation
Lymphatic venous malformation, Capillary lymphatic venous malformation Capillary arteriovenous malformation Capillary lymphatic arteriovenous malformation others |
See details | See list | |
° defined as two or more vascular malformations found in one lesion
* high flow lesions
Classification
Classification of Vascular Malformations
| Vascular malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Simple | Combined | of major named vessels | asscoiated with other anomalies | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined vascular malformations*
| Anomalies of major named vessels (also known as "channel type" or "truncal" vascular malformations) | Vascular malformations associated with other anomalies
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Capillary malformations | Lymphatic malformations | Venous malformations | Arteriovenous malformations | Arteriovenous fistula | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nevus simplex / salmon patch, “angel kiss”, “stork bite” | Common (cystic) LM Macrocystic LM Microcystic LM Mixed cystic LM | Common VM | Sporadic | Sporadic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous and/or mucosal CM (also known as “port-wine” stain) Nonsyndromic CM CM with CNS and/or ocular anomalies (Sturge-Weber syndrome) CM with bone and/or soft tissues overgrowth Diffuse CM with overgrowth (DCMO) | Generalized lymphatic anomaly (GLA) Kaposiform lymphangiomatosis (KLA) | Familial VM cutaneo-mucosal (VMCM) | In HHT | In HHT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Reticulate CM CM of MIC-CAP (microcephaly-capillary malformation) CM of MCAP (megalencephaly-capillary malformation-polymicrogyria) | LM in Gorham-Stout disease | Blue rubber bleb nevus (Bean) syndrome VM | In CM-AVM | In CM-AVM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CM of CM-AVM | Channel type LM | Glomuvenous malformation (GVM) | Others | Others | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutis marmorata telangiectatica congenita (CMTC) | “Acquired” progressive lymphatic anomaly (so called acquired progressive "lymphangioma") | Cerebral cavernous malformation (CCM) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Others | Primary lymphedema | Familial intraosseous vascular malformation (VMOS) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Telangiectasia Hereditary hemorrhagic telangiectasia (HHT) Others | Others | Verrucous venous malformation (formerly verrucous hemangioma) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Others | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tables
| Anomalies of major named vessels
(also known as "channel type" or "truncal" vascular malformations) |
|---|
Affect
lymphatics veins arteries Anomalies of origin course number length diameter (aplasia, hypoplasia, stenosis, ectasia / aneurysm) valves communication (AVF) persistence (of embryonal vessel) |
| Combined vascular malformations* | ||
|---|---|---|
| CM + VM | capillary-venous malformation | CVM |
| CM + LM | capillary-lymphatic malformation | CLM |
| CM + AVM | capillary-arteriovenous malformation | CAVM |
| LM + VM | lymphatic-venous malformation | LVM |
| CM + LM + VM | capillary-lymphatic-venous malformation | CLVM |
| CM + LM + AVM | capillary-lymphatic-arteriovenous malformation | CLAVM |
| CM + VM + AVM | capillary-venous-arteriovenous malformation | CVAVM |
| CM + LM + VM + AVM | capillary-lymphatic-venous-arteriovenous m. | CLVAVM |
| Vascular malformations associated with other anomalies | ||
|---|---|---|
| Klippel-Trenaunay syndrome * | CM + VM +/-LM + limb overgrowth | |
| Parkes Weber syndrome | CM + AVF + limb overgrowth | |
| Servelle-Martorell syndrome | limb VM + bone undergrowth | |
| Sturge-Weber syndrome | facial + leptomeningeal CM + eye anomalies
+/-bone and/or soft tissue overgrowth | |
| Limb CM + congenital non-progressive limb overgrowth | ||
| Maffucci syndrome | VM +/-spindle-cell hemangioma + enchondroma | |
| Macrocephaly-CM (M-CM / MCAP) * | ||
| Microcephaly-CM (MICCAP) | ||
| CLOVES syndrome * | LM + VM + CM +/-AVM+ lipomatous overgrowth | |
| Proteus syndrome | CM, VM and/or LM + asymmetrical somatic overgrowth | |
| Bannayan-Riley-Ruvalcaba sd | lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth | |
Provisionally unclassified vascular anomalies
Intramuscular hemangioma
- Characterized by benign proliferation of vascular channels. Majority of lesions occur in subcutaneous adipose tissues, followed by muscles. Thigh and calf are most common sites of occurrence. Majority of the lesions are asymptomatic. Typical clinical presentation includes chronic pain and swelling that both may increase with exercise of affected muscle due to increased blood flow. Other clinical manifestations may include pulsations, discoloration over the lesion, lesion enlargement when in dependent position, increased temperature, muscle contracture, tenderness, and muscle weakness and fatigue.[1][2]
- Intramuscular hemangiomas may be associated with Kasabach-Merritt syndrome characterized by thrombocytopenia and/or consumptive coagulopathy. This lesion may also lead to functional impairment, congestive cardiac failure due to AV shunting, pressure symptoms, skin necrosis and may also erode bone.[2][3]
- Etiology and pathophysiology are not clearly defined but majority of the lesions are congenital while a one fifth may be associated with trauma.[1]
- MRI is the diagnostic study of choice although X-RAY and ultrasound may be used as initial studies. Treatment is generally not indicated for asymptomatic lesions. Management options for symptomatic, complicated and for cosmetic reasons may include laser ablation, systemic corticosteroids, cryotherapy, embolization, radiation, compression sclerotherapy, and surgical excision although surgical excision is usually treatment of choice in majority of the cases.[1][2][3][4][5][6]
Angiokeratoma
- A muco-cutaneous vascular lesion with wart-like papular appearance characterized by dilated capillaries in the dermis and hyperkeratotis of the overlying epidermis. Clinically it may manifest as solitary or multiple hyperkeratotic papules that may be localized or generalized, most typically on scrotum, thighs, lower extremity, abdomen, trunk, tongue, penis and labia majora. Majority of the lesions are asymptomatic but some may ulcerate and/or bleed.[7][8]
- It may be classified into following entities:[9]
- Fordyce’s angiokeratoma (arising on the genitals)
- Mibelli’s angiokeratoma (dorsum of toes and fingers)
- Angiokeratoma circumscriptum naeviforme (unilateral large keratotic plaques)
- Angiokeratoma corporis diffusum (ACD) (generalized lesions between umbilicus and the knee)
- Angiokeratomas are more prevalent among males as compared to females. Increased venous pressure and radiation therapy have been cited as possible causes. Angiokeratomas have been associated with enzyme deficiencies such as alpha-galactosidase A (Fabry disease), α-fucosidase (fucosidosis), neuraminidase (sialodosis), aspartyl glycosaminase (aspartyl glucosaminuria), β-mannosidase (β- mannosidosis), α-N-acetyl galactosaminidase (Kansaki disease), and β-galactosidase (adult onset GM1 gangliosidosis).[7][8][9][10]
- The diagnosis is mainly clinical but biopsy may be required. Associated enzyme deficiencies and systemic disorders must be ruled out. Treatment is generally not indicated but if so required then excision, electrocautery, cryotherapy, or laser ablations are the options.[7][10][9][11]
Sinusoidal hemangioma
- A variant of cavernous hemangioma characterized histopathologically by presence of dilated thin-walled vascular channels, that vary in size, exhibiting nodular proliferation with sinusoidal arrangement. Pseudopapillary structures may also be present. Clinically majority of the lesions manifest in female adults as single, well-defined, painless, subcutaneous nodule with bluish color. Most frequent locations are trunk, extremities and breasts. Painless swelling is the most common patient complaint.[12][13][14]
- Abnormalities of vasculogenesis and angiogenesis have been proposed as pathogenesis but it is not well-established.[13]
- Combination of clinical manifestations and histopathological features is used for diagnosis. Surgery (wide excision of tumor) is the treatment of choice if treatment is required.[13][14][15]
Acral arteriovenous "tumour"
- Congenital or acquired lesion manifesting clinically as asymptomatic mass or may present with pulsatile swelling, headache, localized throbbing pain, tinnitus and bleeding. Histopathologically they are characterized by arterio-venous connection without connecting capillary with or without intracranial component. The lesion derived its name from its acral distribution.[16][17]
- Etiology can be classified as following: Congenital, traumatic, infection and inflammation and familial.[16][18]
- Although diagnosis can be made clinically, angiography is the gold standard diagnostic modality to diagnose and define the extent of the lesion. Management regimen may include surgical excision, ligation of the supplying arteries, embolization, and intralesional sclerosing injection.[17][19][20][21][22]
Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT)
- Rare congenital disorder characterized by proliferation of vascular channels in multiple organs associated with thrombocytopenia of variable degree. Lesions may manifest themselves on skin, gastrointestinal tract, lungs, brain, bone, liver, spleen and muscles. Majority of cutaneous lesions present as multiple red to blue papules, plaques, nodules on trunk and extremities. Gastrointestinal bleeding due to multiple hemorrhagic lesions is the cause of mortality in majority of the patients. Similar lesions in brain and lungs may cause severe cerebral edema and pulmonary hemorrhage.[23][24]
- Disease may manifest without cutaneous involvement or thrombocytopenia. Biopsy typically reveals proliferation of well differentiated vascular channels with intravascular papillary structure and thrombi, sometimes with hobnail appearance of lining endothelial cells.[23][25]
- Biopsy followed by histopathological and immunohistochemical are required for diagnosis. Management is not well-established and disorder has a poor prognosis with high mortality. Recently sirolimus and bevacizumab have been used to treat this diorder with some success.[23][26][27]
Fibro adipose vascular anomaly (FAVA)
- Vascular disorder typically manifesting as infiltration of muscles by fibrofatty tissues, atypical venodilation associated with localized pain, and contracture of the affected muscles. Majority of the lesions involve calf muscles and may present as painful mass, contracture of the extremity, and decreased dorsiflexion at ankle joint. Skin is not typically involved. Histological studies demonstrates fibrous and adipose tissue and congregations of venous channels with abnormal lymphatic component.[28][29]
- Somatic activating mutations in PIK3CA that encodes phosphatidylinositol 3-kinase (PI3K), an enzyme functioning in cell growth, proliferation, differentiation, and survival.[30]
- Clinical and radiological findings are often sufficient to form the diagnosis. Inconclusive cases my require biopsy. Surgical resection is the often the preferred treatment and is more effective than sclerotherapy, the alternative therapy.[28][29]
Vascular malformations associated with other anomalies
Klippel-Trenaunay syndrome
- First described by Klippel and Trenaunay in 1900, this congeital syndrome is characterized by presence of capillary malformations, venous malformations, and soft tissues and bone hypertrophy. Lymphatic malformations may or may not be present. Capillary malformations typically present in form of capillary hemangioma and can occur anywhere on the body while venous and lymphatic malformations, and soft tissue and bone hypertrophy usually involves the extremities.[31][32]
- Clinical manifestations are unilateral in 85% of the cases and may include localized pain and discomfort, leg length discrepancy due to hemihypertrophy, developmental delay, limb abnormalities such as polydactyly, macrodactyly, syndactyly, thrombophlebitis, osteomyelitis, pathological fractures, heart failure, , erysipelas, venous thrombosis due to malformations, pulmonary embolism, gastrointestinal bleeding due to venous overload in the internal iliac vein and ophthalmic abnormalities such as telangiectasia, orbital varix, strabismus, oculosympathetic palsy, Marcus-Gunn pupil, iris coloboma and heterochromia, cataracts, persistent fetal vasculature, varicosities.[31][32][33]
- Etiology and pathogenesis have not been established yet. Some suggestions include PIK3CA mutations, polygenic inheritance, VG5Q mutation and obstruction of the venous system.[31][33][34]
- Diagnosis can be made on clinical manifestations and can be confirmed by Doppler ultrasound and magnetic resonance angiography. Management depends on clinical manifestations.[31][33][35]
Parkes Weber syndrome
- Characterized by a cutaneous flush with underlying multiple micro-AVFs (arteriovenous fistulas), in association with soft tissue and skeletal hypertrophy of the affected limb. Clinical Presentation enlarged arteries and veins, capillary or venous malformations, cutaneous blush, arteriovenous fistulas, and enlargement of limb.
- Mutation in the RASA1 gene has been found to be associated with this syndrome.
- To learn more about Parkes Weber syndrome, click here.
References
- ↑ 1.0 1.1 1.2 Wierzbicki JM, Henderson JH, Scarborough MT, Bush CH, Reith JD, Clugston JR (September 2013). "Intramuscular hemangiomas". Sports Health. 5 (5): 448–54. doi:10.1177/1941738112470910. PMC 3752185. PMID 24427416.
- ↑ 2.0 2.1 2.2 Brown RA, Crichton K, Malouf GM (June 2004). "Intramuscular haemangioma of the thigh in a basketball player". Br J Sports Med. 38 (3): 346–8. PMC 1724833. PMID 15155443.
- ↑ 3.0 3.1 Patnaik S, Kumar P, Nayak B, Mohapatra N (2016). "Intramuscular Arteriovenous Hemangioma of Thigh: A Case Report and Review of Literature". J Orthop Case Rep. 6 (5): 20–23. doi:10.13107/jocr.2250-0685.612. PMC 5404154. PMID 28507959.
- ↑ Tang P, Hornicek FJ, Gebhardt MC, Cates J, Mankin HJ (June 2002). "Surgical treatment of hemangiomas of soft tissue". Clin. Orthop. Relat. Res. (399): 205–10. PMID 12011711.
- ↑ Kim DH, Hwang M, Kang YK, Kim IJ, Park YK (June 2007). "Intramuscular hemangioma mimicking myofascial pain syndrome: a case report". J. Korean Med. Sci. 22 (3): 580–2. doi:10.3346/jkms.2007.22.3.580. PMC 2693661. PMID 17596677.
- ↑ Babu D, Bhamre R, Katna R, Pai P (September 2014). "Intramuscular haemangioma of the tongue". Ann R Coll Surg Engl. 96 (6): e15–7. doi:10.1308/003588414X13946184903126. PMC 4474220. PMID 25198963.
- ↑ 7.0 7.1 7.2 Hussein RS, Kfoury H, Al-Faky YH (2014). "Eyelid angiokeratoma". Middle East Afr J Ophthalmol. 21 (3): 287–8. doi:10.4103/0974-9233.134702. PMC 4123288. PMID 25100920.
- ↑ 8.0 8.1 Trickett R, Dowd H (October 2006). "Angiokeratoma of the scrotum: a case of scrotal bleeding". Emerg Med J. 23 (10): e57. doi:10.1136/emj.2006.038745. PMC 2579622. PMID 16988295.
- ↑ 9.0 9.1 9.2 Chowdappa V, Narasimha A, Bhat A, Masamatti SS (May 2015). "Solitary Angiokeratoma: Report of Two Uncommon Cases". J Clin Diagn Res. 9 (5): WD01–2. doi:10.7860/JCDR/2015/12163.5946. PMC 4484136. PMID 26155544.
- ↑ 10.0 10.1 Rees R, Freeman A, Malone P, Garaffa G, Muneer A, Minhas S (May 2009). "Case study: the surgical management of angiokeratoma resulting from radiotherapy for penile cancer". ScientificWorldJournal. 9: 339–42. doi:10.1100/tsw.2009.23. PMC 5823195. PMID 19468654.
- ↑ Jha AK, Sonthalia S, Jakhar D (2018). "Dermoscopy of Angiokeratoma". Indian Dermatol Online J. 9 (2): 141–142. doi:10.4103/idoj.IDOJ_278_17. PMC 5885630. PMID 29644211.
- ↑ Song BH, Youn SH, Park EJ, Kwon IH, Kim KH, Kim KJ (October 2011). "A case of sinusoidal hemangioma with lipoma". Ann Dermatol. 23 (Suppl 2): S250–3. doi:10.5021/ad.2011.23.S2.S250. PMC 3229078. PMID 22148063.
- ↑ 13.0 13.1 13.2 Ciurea M, Ciurea R, Popa D, Pârvănescu H, Marinescu D, Vrabete M (2011). "Sinusoidal hemangioma of the arm: case report and review of literature". Rom J Morphol Embryol. 52 (3): 915–8. PMID 21892538.
- ↑ 14.0 14.1 Konda P, Bavle RM, Makarla S, Muniswamappa S (January 2016). "Intramuscular sinusoidal haemangioma with secondary Masson's phenomenon". BMJ Case Rep. 2016. doi:10.1136/bcr-2013-201457. PMC 4716435. PMID 26729822.
- ↑ Salemis NS (February 2017). "Sinusoidal hemangioma of the breast: diagnostic evaluation management and literature review". Gland Surg. 6 (1): 105–109. doi:10.21037/gs.2016.11.06. PMC 5293651. PMID 28210560.
- ↑ 16.0 16.1 Gupta R, Kayal A (2014). "Scalp arteriovenous malformations in young". J Pediatr Neurosci. 9 (3): 263–6. doi:10.4103/1817-1745.147587. PMC 4302550. PMID 25624933.
- ↑ 17.0 17.1 Özkara E, Özbek Z, Özdemir AÖ, Arslantaş A (2018). "Misdiagnosed Case of Scalp Arteriovenous Malformation". Asian J Neurosurg. 13 (1): 59–61. doi:10.4103/1793-5482.181137. PMC 5820896. PMID 29492122.
- ↑ Khodadad G (January 1973). "Arteriovenous malformations of the scalp". Ann. Surg. 177 (1): 79–85. PMC 1355509. PMID 4682507.
- ↑ Chowdhury FH, Haque MR, Kawsar KA, Sarker MH, Momtazul Haque AF (January 2013). "Surgical management of scalp arterio-venous malformation and scalp venous malformation: An experience of eleven cases". Indian J Plast Surg. 46 (1): 98–107. doi:10.4103/0970-0358.113723. PMC 3745130. PMID 23960313.
- ↑ El Shazly AA, Saoud KM (October 2012). "Results of surgical excision of cirsoid aneurysm of the scalp without preoperative interventions". Asian J Neurosurg. 7 (4): 191–6. doi:10.4103/1793-5482.106651. PMC 3613641. PMID 23559986.
- ↑ Kasdon DL, Altemus LR, Stein BM (June 1976). "Embolization of a traumatic arteriovenous fistula of the scalp with radiopaque Gelfoam pledgets. Case report and technical note". J. Neurosurg. 44 (6): 753–6. doi:10.3171/jns.1976.44.6.0753. PMID 1271098.
- ↑ Hendrix LE, Meyer GA, Erickson SJ (December 1996). "Cirsoid aneurysm treatment by percutaneous injection of sodium tetradecyl sulfate". Surg Neurol. 46 (6): 557–60, discussion 560–1. PMID 8956889.
- ↑ 23.0 23.1 23.2 Droitcourt C, Boccara O, Fraitag S, Favrais G, Dupuy A, Maruani A (August 2015). "Multifocal Lymphangioendotheliomatosis With Thrombocytopenia: Clinical Features and Response to Sirolimus". Pediatrics. 136 (2): e517–22. doi:10.1542/peds.2014-2410. PMID 26148948.
- ↑ Uller W, Kozakewich HP, Trenor CC, O'Hare M, Alomari AI (October 2014). "Cutaneovisceral angiomatosis with thrombocytopenia without cutaneous involvement". J. Pediatr. 165 (4): 876–876.e1. doi:10.1016/j.jpeds.2014.06.042. PMID 25088066.
- ↑ Zegpi MS, Zavala A, del Puerto C, Cárdenas C, González S (2012). "Newborn with multifocal lymphangioendotheliomatosis with thrombocytopenia". Indian J Dermatol Venereol Leprol. 78 (3): 409. doi:10.4103/0378-6323.95494. PMID 22565464.
- ↑ Takahashi H, Nagatoshi Y, Kato M, Koh K, Kishimoto H, Kawai M, Fukuzawa R, Hanada R (March 2012). "Multifocal skin lesions and melena with thrombocytopenia in an infant". J. Pediatr. 160 (3): 524–524.e1. doi:10.1016/j.jpeds.2011.09.034. PMID 22074937.
- ↑ Kline RM, Buck LM (April 2009). "Bevacizumab treatment in multifocal lymphangioendotheliomatosis with thrombocytopenia". Pediatr Blood Cancer. 52 (4): 534–6. doi:10.1002/pbc.21860. PMID 19101995.
- ↑ 28.0 28.1 Fernandez-Pineda I, Marcilla D, Downey-Carmona FJ, Roldan S, Ortega-Laureano L, Bernabeu-Wittel J (2014). "Lower Extremity Fibro-Adipose Vascular Anomaly (FAVA): A New Case of a Newly Delineated Disorder". Ann Vasc Dis. 7 (3): 316–9. doi:10.3400/avd.cr.14-00049. PMC 4180696. PMID 25298836.
- ↑ 29.0 29.1 Alomari AI, Spencer SA, Arnold RW, Chaudry G, Kasser JR, Burrows PE, Govender P, Padua HM, Dillon B, Upton J, Taghinia AH, Fishman SJ, Mulliken JB, Fevurly RD, Greene AK, Landrigan-Ossar M, Paltiel HJ, Trenor CC, Kozakewich HP (January 2014). "Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity". J Pediatr Orthop. 34 (1): 109–17. doi:10.1097/BPO.0b013e3182a1f0b8. PMID 24322574.
- ↑ Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R (April 2015). "Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA". J. Pediatr. 166 (4): 1048–54.e1–5. doi:10.1016/j.jpeds.2014.12.069. PMC 4498659. PMID 25681199.
- ↑ 31.0 31.1 31.2 31.3 Baba A, Yamazoe S, Okuyama Y, Shimizu K, Kobashi Y, Nozawa Y, Munetomo Y, Mogami T (February 2017). "A rare presentation of Klippel-Trenaunay syndrome with bilateral lower limbs". J Surg Case Rep. 2017 (2): rjx024. doi:10.1093/jscr/rjx024. PMC 5400491. PMID 28458832.
- ↑ 32.0 32.1 Tetangco EP, Arshad HM, Silva R (August 2016). "Klippel-Trenaunay Syndrome of the Rectosigmoid Colon Presenting as Severe Anemia". ACG Case Rep J. 3 (4): e161. doi:10.14309/crj.2016.134. PMC 5126491. PMID 27921060.
- ↑ 33.0 33.1 33.2 Chagas C, Pires L, Babinski MA, Leite T (2017). "Klippel-Trenaunay and Parkes-Weber syndromes: two case reports". J Vasc Bras. 16 (4): 320–324. doi:10.1590/1677-5449.005417. PMC 5944310. PMID 29930667. Vancouver style error: initials (help)
- ↑ "www.issva.org" (PDF).
- ↑ Lei H, Guan X, Han H, Qian X, Zhou X, Zhang X, Tian L (June 2018). "Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report". Sex Med. 6 (2): 180–183. doi:10.1016/j.esxm.2017.12.001. PMC 5960021. PMID 29452831.