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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 basal cell carcinoma, a malignant type of 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.
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, NBCCS has an incidence of 1 in 50,000 to 150,000 with higher incidence in Australia. One aspect of NBCCS is that basal cell carcinomas will occur on non-sun-exposed areas of the body, such as the palms and soles of the feet. These lesions may develop at the base of palmer and plantar pits. 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.
Some or all of the following may be seen in someone with Gorlin Syndrome:
Diagnosis of NBCCS is made by having 2 major criteria or 1 major and 2 minor criteria.
The major criteria consist of the following:
The minor criteria include the following:
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