Neviod basal cell carcinoma (Gorlin) syndrome - A Case Report

Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder with complete penetrance but variable expressivity. It affects nervous system, eyes, endocrine system and bones and characterized by multiple basal cell carcinomas (BCC), odontogenic keratocyst, characteristic facial appearance, skeletal abnormalities and malignancies of various organs. The prevalence is reported to be 1 case per 56,000-164,000 population [1,2]. Recent work has shown NBCCS to be caused by mutations in the tumor suppressor gene, PTCH1 (patched) gene found on chromosome 9q22.3. Approximately 60 percent of patients with a diagnosis of Gorlin syndrome are expected to have a mutation in the PTCH gene identifiable by sequencing [3]. Herein, we report a case of 40 year female with many important clinical findings of nevoid basal cell carcinoma syndrome.