A Novel PTCH1 Mutation in Patient with Gorlin-Goltz Syndrome and its Management, A Case Report

Abstract

Gorlin-Goltz syndrome (GS), also known as nevoid basal cell carcinoma syndrome or basal cell naevus syndrome, is a rare autosomal dominant hereditary disease characterized by systemic and diverse developmental abnormalities and neoplastic lesions [1]. Patients with Gorlin-Goltz syndrome develop commonly multiple odontogenic keratocysts around the age of 20, and basal cell carcinomas (BCCs) especially in middle-aged patients. The diagnosis of GS is based on clinical, radiological, and genetic elements. The criteria reported by Kimonis et al. [2] are the most used. This method includes six major criteria: basal cell carcinoma, palmar plantar small depression, jaw bone cyst, rib abnormalities, calcified falx cerebri, and family history of the disease within the first degree; and six minor criteria: macrocephaly, ovarian fibromas, congenital malformation, skeletal abnormalities, X-ray abnormalities, and medulloblastomas. Follow these criteria, we can make a diagnosis when the patient presents two major criteria, or one major and two minor criteria [2]. The confirm of the diagnosis is related to gene mutation analysis. So genetic counseling is mandatory after genetic diagnosis.