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 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.
Medscape Dermatology © 2011
Cite this: Adam Taintor. Basal Cell Nevus Syndrome in a 9-Year-Old Boy - Medscape - Nov 02, 2011.