Gorlin Syndrome eMedicine Pediatrics

Description: Gorlin syndrome is an autosomal dominant cancer. Patients with this rare syndrome often have several organ anomalies, many of which are subtle. Study of patients with Gorlin syndrome yields useful information about its neural development and carcinogenesis. Clinicians should be familiar with Gorlin syndrome because patients tend to develop multiple neoplasms, including basal cell carcinomas and medulloblastoma, and because patients are extremely sensitive to ionizing radiation, including sunlight. The presence of multiple abnormalities of the skin, skeleton, and nervous system have led some to call Gorlin syndrome the fifth phakomatosis. The syndrome has also been referred to as basal cell nevus syndrome. However, the "nevi" in basal cell nevus syndrome are true basal cell carcinomas; therefore, use of this name is discouraged
Synonyms and related keywords: Gorlin syndrome, Gorlin's syndrome, basal cell nevus syndrome, nevoid basal cell carcinoma syndrome, NBCCS, basal cell carcinoma, medulloblastoma, fifth phakomatosis, nevi, patched gene, PTCH
Author: Andrew W Walter, MS, MD 2006