GORLIN GOTZ SYNDROME: MULTISYSTEMATIC DISORDER CASE REPORT

Nevoid basal cell carcinoma syndrome (“Gorlin–Goltz syndrome”) is a heritable condition and thought to be due to a genetic defect which is a mutation of the “Patched” tumor suppressor gene. It is inherited in an autosomal dominant manner, but sporadic cases have been described. The syndrome shows high penetrance and variable expressivity. It is a multisystem disorder with multiple pigmented basal cell carcinomas, jaw keratocysts, palmar and/or plantar pits, and calcification of the falx cerebri. Other less prominent features have also been noted, such as skeletal, dermatologic, and neurologic abnormalities. Very aggressive basal cell carcinomas and other malignant neoplasms have been seen in some cases. Since the oral and maxillofacial manifestations of this syndrome are of utmost importance, their characteristics must be understood for diagnosis, early preventive treatment, and genetic counseling. Here we summarize the principal clinicopathologic features and treatment options associated with this syndrome.