Gorlin-Goltz syndrome: systemic and maxillofacial characteristics

Gorlin-Goltz Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome, is a rare genetic disorder characterized by the presence of multiple keratocysts in the jaw and basal cell carcinomas, at young age, of palmar and/or plantar depressions, of calcification of the sickle cerebral and skeletal malformations. This syndrome is caused by a mutation of the PTCH1 (patched homolog 1 from Drosophila) gene, a tumor suppressor gene. In this work, the systemic and maxillofacial characteristics of the Gorlin-Goltz syndrome, as well as some neurological, dermatological, musculoskeletal and endocrine alterations, are reviewed. In addition, a case report was added for the purpose of support this study. (author)