Publication:

Gorlin-Goltz syndrome presenting with multiple basal cell carcinomas and odontogenic keratocysts: a case report

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant disorder characterized by multiple basal cell carcinomas, odontogenic keratocysts, skeletal anomalies, and intracranial calcifications. It results from mutations in the PTCH1 gene, leading to dysregulation of the Hedgehog signaling pathway. Early diagnosis is crucial due to its multisystem involvement and potential for malignancy. We report a case of a 45-year-old male presenting with multiple facial lesions of long duration associated with jaw swelling and palmar pits. Radiological evaluation including CBCT revealed multiple well-defined radiolucencies involving the maxilla and mandible along with bifid ribs and calcification of the falx cerebri. Histopathological examination confirmed basal cell carcinoma and odontogenic keratocysts. Based on clinical, radiological, and histopathological findings, a diagnosis of Gorlin-Goltz syndrome was established. The patient was managed with a multidisciplinary approach including dermatological and surgical interventions with satisfactory outcome on follow-up. This case highlights the importance of early recognition, multidisciplinary management, and long-term surveillance in preventing complications associated with this syndrome.