Nevoid basal cell carcinoma syndrome

	WikiDoc Resources for Nevoid basal cell carcinoma syndrome
Articles
Most recent articles on Nevoid basal cell carcinoma syndrome Most cited articles on Nevoid basal cell carcinoma syndrome Review articles on Nevoid basal cell carcinoma syndrome Articles on Nevoid basal cell carcinoma syndrome in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Nevoid basal cell carcinoma syndrome Images of Nevoid basal cell carcinoma syndrome Photos of Nevoid basal cell carcinoma syndrome Podcasts & MP3s on Nevoid basal cell carcinoma syndrome Videos on Nevoid basal cell carcinoma syndrome
Evidence Based Medicine
Cochrane Collaboration on Nevoid basal cell carcinoma syndrome Bandolier on Nevoid basal cell carcinoma syndrome TRIP on Nevoid basal cell carcinoma syndrome
Clinical Trials
Ongoing Trials on Nevoid basal cell carcinoma syndrome at Clinical Trials.gov Trial results on Nevoid basal cell carcinoma syndrome Clinical Trials on Nevoid basal cell carcinoma syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Nevoid basal cell carcinoma syndrome NICE Guidance on Nevoid basal cell carcinoma syndrome NHS PRODIGY Guidance FDA on Nevoid basal cell carcinoma syndrome CDC on Nevoid basal cell carcinoma syndrome
Books
Books on Nevoid basal cell carcinoma syndrome
News
Nevoid basal cell carcinoma syndrome in the news Be alerted to news on Nevoid basal cell carcinoma syndrome News trends on Nevoid basal cell carcinoma syndrome
Commentary
Blogs on Nevoid basal cell carcinoma syndrome
Definitions
Definitions of Nevoid basal cell carcinoma syndrome
Patient Resources / Community
Patient resources on Nevoid basal cell carcinoma syndrome Discussion groups on Nevoid basal cell carcinoma syndrome Patient Handouts on Nevoid basal cell carcinoma syndrome Directions to Hospitals Treating Nevoid basal cell carcinoma syndrome Risk calculators and risk factors for Nevoid basal cell carcinoma syndrome
Healthcare Provider Resources
Symptoms of Nevoid basal cell carcinoma syndrome Causes & Risk Factors for Nevoid basal cell carcinoma syndrome Diagnostic studies for Nevoid basal cell carcinoma syndrome Treatment of Nevoid basal cell carcinoma syndrome
Continuing Medical Education (CME)
CME Programs on Nevoid basal cell carcinoma syndrome
International
Nevoid basal cell carcinoma syndrome en Espanol Nevoid basal cell carcinoma syndrome en Francais
Business
Nevoid basal cell carcinoma syndrome in the Marketplace Patents on Nevoid basal cell carcinoma syndrome
Experimental / Informatics
List of terms related to Nevoid basal cell carcinoma syndrome

	Nevoid basal cell carcinoma syndrome;
OMIM	109400
DiseasesDB	5370
eMedicine	derm/291
MeSH	C04.182.089.530.690.150

The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) (also known as Basal Cell Nevus Syndrome, Multiple Basal Cell Carcinoma Syndrome, Gorlin syndrome, or Gorlin-Goltz syndrome) is an inherited group of multiple defects involving the skin, nervous system, eyes, endocrine system, and bones.^[1]

First described in 1960, NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for skin cancer.^[2] The prevalence is reported to be 1 case per 56,000-164,000 population. Recent work in molecular genetics has shown NBCCS to be caused by mutations in the PTCH (patched) gene found on chromosome arm 9q.^[3] If a child inherits the defective gene from either parent, he or she will have the disorder.

Incidence

About 750,000 new cases of sporadic basal cell carcinoma (BCC) occur each year in the United States. Ultraviolet (UV) radiation from the sun is the main trigger of these cancers, and people with fair skin are especially at risk. Most sporadic BCC arise in small numbers on sun-exposed skin of people over age 50, although younger people may also be affected. By comparison, one of the prime features of NBCCS is development of multiple BCC at an early age, often in the teen years. Each person who has this syndrome is affected to a different degree, some having many more manifestations characteristic of it than others.

Diagnostic criteria

Diagnosis of NBCCS is made by having 2 major criteria or 1 major and 2 minor criteria.

The major criteria consist of the following:

more than 2 BCCs or 1 BCC in a person younger than 20 years;
odontogenic keratocysts of the jaw
3 or more palmar or plantar pits
calcification of the falx cerebri
bifid, fused, or splayed ribs
first-degree relative with NBCCS.

The minor criteria include the following:

macrocephaly.
congenital malformations, such as cleft lip or palate, frontal bossing, or hypertelorism.
other skeletal abnormalities, such as Sprengel deformity, pectus deformity, or syndactyly.
radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.
ovarian fibroma or medulloblastoma.

People with NBCCS need education about the syndrome, and may need counseling and support, as coping with the multiple BCCs and multiple surgeries is often difficult. They should reduce UV light exposure, to minimize the risk of BCC. They should also be advised that receiving Radiation therapy for their skin cancers may be contraindicated. They should look for symptoms referable to other potentially involved systems: the CNS, the genitourinary system, the cardiovascular system, and dentition. Genetic counseling is advised for prospective parents, since one parent with NBCCS causes a 50% chance that their child will also be affected.

Physical examination

Nevoid basal cell carcinoma syndrome. With permission from Dermatology Atlas.^[4]
Nevoid basal cell carcinoma syndrome. With permission from Dermatology Atlas.^[4]
Nevoid basal cell carcinoma syndrome. With permission from Dermatology Atlas.^[4]

References

↑ Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S (1997). "Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome". Am J Med Genet. 69 (3): 299–308. PMID 9096761.
↑ Gorlin R, Goltz R (1960). "Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome". N Engl J Med. 262: 908–12. PMID 13851319.
↑ Johnson R, Rothman A, Xie J, Goodrich L, Bare J, Bonifas J, Quinn A, Myers R, Cox D, Epstein E, Scott M (1996). "Human homolog of patched, a candidate gene for the basal cell nevus syndrome". Science. 272 (5268): 1668–71. PMID 8658145.
↑ ^4.0 ^4.1 ^4.2 "Dermatology Atlas".

External links

Gorlin Group (UK support site)
US National Library of Medicine page

de:Gorlin-Goltz-Syndrom nl:Basaalcelnaevussyndroom

Template:WikiDoc Sources

[Kimonis_1997-1] Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S (1997). "Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome". Am J Med Genet. 69 (3): 299–308. PMID 9096761.

[Gorlin_1960-2] Gorlin R, Goltz R (1960). "Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome". N Engl J Med. 262: 908–12. PMID 13851319.

[Johnson_1996-3] Johnson R, Rothman A, Xie J, Goodrich L, Bare J, Bonifas J, Quinn A, Myers R, Cox D, Epstein E, Scott M (1996). "Human homolog of patched, a candidate gene for the basal cell nevus syndrome". Science. 272 (5268): 1668–71. PMID 8658145.

[Dermatology_Atlas-4] 4.0 ^4.1 ^4.2 "Dermatology Atlas".

[1]

[2]

[3]

[4]