DIAGNOSIS OF GORLIN-GOLTZ SYNDROME IN A PEDIATRIC PATIENT

Abstract

Gorlin-Goltz syndrome (GGS) is a hereditary autosomal dominant disorder with high penetrance and variable expressivity. It is characterized by several basal cell carcinomas (BCC) of early onset, multiple odontogenic keratocysts (OKs), and skeletal abnormalities. Due to the broad clinical spectrum, treatment must be individualized and requires a multidisciplinary team. We presented a rare case of GGS in an 11-year-old female patient. Extraoral clinical examination showed discrete frontal bossing, hypertelorism, and palmoplantar pits. Imaging exams showed calcification of the falx cerebri and multiple osteolytic lesions in the mandible and maxilla. An incisional biopsy of the lesions was performed. The histopathologic diagnosis was OK. The OKs were treated through marsupialization and enucleation and curettage. The expression of several characteristics of GGS is rare in children and adolescents. Early diagnosis is essential to reduce the morbimortality associated with BCC.