Gorlin Syndrome

Nevoid basal-cell carcinoma syndrome
Micrograph showing , a common finding in nevoid basal-cell carcinoma syndrome. H&E stain.
Classification and external resources
Specialty	medical genetics
OMIM	109400
DiseasesDB	5370
MedlinePlus	001452
eMedicine	derm/291
MeSH	C04.182.089.530.690.150
[]

Nevoid basal-cell carcinoma syndrome (NBCCS), also known as basal-cell nevus syndrome, multiple basal-cell carcinoma syndrome, Gorlin syndrome, and Gorlin–Goltz syndrome, is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancer.

About 10% of people with the condition do not develop basal-cell carcinomas (BCCs). The name Gorlin syndrome refers to researcher Robert J. Gorlin (1923–2006).

First described in 1960, NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma, a type of skin cancer which rarely spreads to other parts of the body. 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. If a child inherits the defective gene from either parent, he or she will have the disorder.

Some or all of the following may be seen in someone with Gorlin Syndrome:

Mutations in the human homologue of Drosophila patched(PTCH), a tumor suppressor gene on chromosome 9, were identified as the underlying genetic event in this syndrome

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

The major criteria consist of the following:

...
Wikipedia