Basal Cell Nevus Syndrome in a 9-Year-Old Boy

Adam Taintor, MD


November 02, 2011

A screening workup included an MRI of the brain and radiographs of the headand chest, all of which were normal.

Basal Cell Carcinoma

Basal cell carcinoma is a common skin cancer. It is usually seen in adults and is unusual in children. Lesions typically occur on sun-exposed skin because the cancer is caused by ultraviolet and ionizing radiation, resulting in mutations in the tumor suppressor genes PTCH and p53.

Gorlin syndrome[1] is more commonly known as basal cell nevus syndrome. It is also known as nevoid basal cell carcinoma syndrome, Gorlin-Goltz syndrome, and hereditary cutaneomandibular polyoncosis. It is a relatively rare disorder, with 1 case per 60,000 people, and has a slightly increased predominance of females (1.3:1). It is caused by a mutation in the PTCH1, PTCH2, or SUFU tumor suppressor genes. These mutations are autosomal dominant and are of high penetrance and variable expressivity, with the syndrome manifesting in only 1 of 200 patients who have the mutation. De novo mutations are present in 40% of patients, and basal cell carcinomas develop in 75% of patients before the age of 20 years.


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