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.