Gorlin syndrome or basal cell nevus syndrome (BCNS): A case report

Abstract

Gorlin syndrome, also known as Basal Cell Nevus Syndrome (BCNS), is a rare autosomal dominant disorder with complete penetrance and variable expressivity. This syndrome is characterized by developmental anomalies, such as odentogenic keratocysts of the mandible and postnatal tumors, especially multiple basal cell carcinomas (BCCs). The prevalence of this syndrome is variously estimated to be 1 in 60,000 to 1 in 120,000 persons. Mutation in a tumor suppressor, the PTCH1 gene residing on long arm of Ch 9, is responsible for the development of many postnatal tumors. Patients with Gorlin syndrome show multiple abnormalities, none of which is unique to this condition. Our case had almost all the features of this rare syndrome.