GORLIN-GOLTZ Syndrome: Diagnosis, Management and Follow-Up of a Little-Known Pathology

Introduction: Gorlin syndrome is a genetically predisposed inherited disorder caused by mutation of the PTCH tumour suppressor gene. Its clinical manifestations are variable, but odontogenic keratocysts, basal cell nevi and carcinomas, and costal and vertebral anomalies are the most common. Materials and Method: A retrospective study was carried out including patients operated on for maxillo-mandibular cysts in the context of basal cell nevomatosis. Results: Seven cases were collected. The mean age was 21 years, with a clear female predominance (80%). Odontogenic keratocysts were responsible for facial asymmetry in all patients. They were located twice as often on the mandible. The other major and minor criteria were variably associated. The diagnosis was based on the criteria defined by Kimonis, with confirmation by a genetic study in one patient. Treatment was surgical. Recurrences occurred in 40% of cases, with an average follow-up time of 2 years. Average follow-up was 4 years. Conclusion: Gorlin syndrome should be considered in cases of recurrent keratocysts in young subjects, associated with other signs, with long-term multidisciplinary follow-up to provide the best possible care for these patients.