Gorlin-Goltz syndrome: Multidisciplinary approach for early diagnosis of rare disease for better patient outcome

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent, autosomal dominant, multi-systemic disease characterized by odontogenic keratocysts (OKC) in the jaw, multiple basal cell carcinomas (BCC), ectopic calcifications of the falx and tentorium, and various other skeletal abnormalities. The syndrome can be recognized early in life during dental and dermatology visits or on routine radiographic studies, opening the door for further screening and follow-up of affected individuals and their offspring. We report a case of Gorlin syndrome diagnosed in a 37-year-old female patient with features of hypertelorism after presenting with jaw swelling of 6 months. The diagnosis was made after identifying multiple OKCs, bilamellar calcification of falx and tentorium, bifid spinous process, and bridging sella seen on head computed tomography (CT) scan, fulfilling the diagnostic criteria set for the syndrome. This case highlights the important role radiology has in diagnosing NBCCS and the importance of a multidisciplinary approach to provide a better prognosis for the patient.