Multiple, Multiloculated, and Recurrent Keratocysts of the Mandible and Maxilla in Association with Gorlin-Goltz (Nevoid Basal-Cell Carcinoma) Syndrome: A Pediatric Case Report and Follow-up over 5 Years

Abstract

Background. We report a case of multiple keratocysts first diagnosed in an 8-year-old boy. Case report. The incidental radiographic finding of a cystic lesion in an 8-year-old boy led to the surgical enucleation and further diagnosis of a keratocyst associated with a tooth crown. In the course of dental maturation from deciduous to permanent teeth, the boy presented new lesions, always associated with the crowns of teeth. Gorlin-Goltz (nevoid basal-cell carcinoma) syndrome was suspected, and the genetic analysis detected a previously undescribed germline variant in the PTCH1 gene. Treatment. This included a surgical removal of the cystic lesions, as well as the affected teeth. Follow-up. Due to the high recurrence rate of the keratocysts, frequent radiological checks were performed over a 5-year period.