Gorlin Goltz Syndrome: Report of A Clinical Case with no Genetic Background

 

Abstract

First described in 1960 by pathologist Robert Gorlin and dermatologist Robert W Goltz of the University of Minnesota, USA, they provided the basis for the diagnosis of the syndrome, establishing basal cell carcinomas, keratocysts, and skeletal malformations as the primary criteria for the syndrome. Subsequently, authors such as Evans, Kimonis, and Bree established major and minor criteria for the correct diagnosis. According to the International Classification of Applied Diseases in Dentistry and Stomatology (ICD-AO), Gorlin Goltz Syndrome is classified within congenital anomalies and other hamartomatosis. It is caused by a mutation in chromosome 9q22.3 in the tumor suppressor Patched 1. This work presents the clinical case of a 10-year-old female patient with a 13x15cm volume increase in the maseterine region on the left side, diagnosed as Gorlin Goltz Syndrome with no hereditary antecedents.

Keywords:Syndrome; Gorlin-Goltz, Basal Cell carcinoma; Keratocysy; Chromosome

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