Gorlin-Goltz Syndrome: A Case Report

Abstract

Nevoid basal cell carcinoma syndrome usually presents as an autosomal dominantly inherited syndrome with variable phenotypic expression. The aim of this study was to report a case of this syndrome based on clinical, radiographic, and histopathological findings. Male patient, 13-years-old, attended the Oral Diagnostic Clinic from State University of Paraiba, complaining of mandible swelling. On physical examination, left facial asymmetry was found, with mandible swelling and inflammatory submandibular lymphadenopathy. The patient also presented polydactyly. Panoramic radiography showed a multilocular well-defined mandibular radiolucency in anterior region. An incisional biopsy was performed, confirming the diagnosis of odontogenic keratocyst. Skull postero-anterior and thorax radiographic images were also performed, with no alterations. The patient was clinically diagnosed as having nevoid basal cell carcinoma syndrome with the presence of odontogenic keratocyst as a major criterion and the following minor criteria: Polydactyly, hypertelorism, Sprengel anomaly, deformed chest and prominent frontal bossing. The patient was referred to the physician for evaluation. Nevoid basal cell carcinoma syndrome has several distinct clinical characteristics and careful investigation is important, especially using imaging tests as complementary exams.