Gorlin-Goltz syndrome – Report of a case with review of literature

Abstract

Gorlin-Goltz syndrome (GGS), also known as the basal cell nevus syndrome (BCNS), or nevoid basal cell carcinoma syndrome (NBCCS), is a multisystem autosomal dominant disorder, characterized by the presence of numerous odontogenic keratocysts (OKC), along with variable cutaneous, dental, skeletal, muscular, neurological, sexual and ophthalmologic anomalies. Mostly mutation of the patched 1 (PTCH1) gene is responsible, while in a few instances germline mutation of suppressor of fused homolog (SUFU) gene is evident. Timely diagnosis and proper management of the various systemic abnormalities associated with NBCCS, is of utmost significance, owing to its susceptibility towards malignant transformation to basal cell carcinoma (BCC). Herein, we describe GGS in a 22 years old male patient, with relevant diagnostic aspects.