Gorlin’s Syndrome: A Case Report

Abstract

Introduction: Gorlin’s syndrome otherwise ref as

Nevoid Basal cell carcinoma syndrome, is a multisystemic

genetic disorder presenting with both cancerous and

non-cancerous tumors. It is infrequent, and the clinical

presentation vary in predominance. Background:

Gorlin-Goltz syndrome also known as Nevoid Basal cell

carcinoma syndrome, is multi system disorder involving the

cutaneous, orofacial, skeletal, endocrine, ophthalmic, genital

and central nervous system. The incidence of the syndrome

is 1/50,000 - 1/256,000 population, with both sex having

equal predominance. It is caused by the mutation occurring

in the PTCH 1 gene of chromosome 9q, with autosomal

dominant inheritance. Clinical diagnosis is based on minor

and major criteria. Aim & Objective: Reporting a case with

clinical presentation of various features of Gorlins syndrome.

Results : The multiple lesions over the face were excised

and skin cover was given by local advancement flaps.

Histopathology report of the lesion came as Basal cell

carcinoma. The pathology report of the swelling over jaw

came as keratocystic odontogenic tumor of jaw. The

remaining systemic examination didn’t reveal any other

tumors. The patient is on regular follow up. Conclusion:

Gorlin syndrome being an infrequently occurring tumor, high

degree of suspicion is required when patient presents with

jaw cysts or with multiple cutaneous malignancies. The

presentation may slightly differ in our Indian race in

comparison with other races.