Naevoid Basal Cell Carcinoma Syndrome



Shahmoradi Z^{1, 2} ; Andalib F³ ; Siadat AH⁴ Show Affiliations
Source: Journal of Isfahan Medical School Published:2012

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaw, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). This paper introduces three NBCCS patients and describes their symptoms. In our first case, two major (multiple BCCs in younger than 30 years of age, and palmar pits) and one minor (medulloblastoma) criteria were met, which were indicative of Gorlin syndrome. The second case had two major criteria (multiple BCCs in younger than 30 years of age and odontogenic keratocyst), which confirmed Gorlin syndrome. The third case had one major criterion (multiple BCCs) and two minor criteria (congenital skeletal anomaly and frontal bossing) which confirmed Gorlin syndrome. Early diagnosis and treatment is important in preventing long term squeals of this syndrome that include malignancy and oromaxillofacial deformation and destruction. © 2012, Isfahan University of Medical Sciences(IUMS). All rights reserved.