Gorlin syndrome: A rare case report

Sandhya Shrivastava, Sushruth Nayak, Prachi Nayak, Sourabh SahuJournal of Oral and Maxillofacial Pathology 2020 24(3):591-592
Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. The syndrome is caused by mutations in PTCH, a tumor suppressor gene that has been mapped to chromosome 9q22.3-q31. It is observed that most aggressive forms of keratocystic odontogenic tumor are the first signs of this syndrome which show a high recurrence rate due to its varied histopathological features. The other components are multiple basal cell carcinomas of the skin, intracranial calcifications and rib and vertebral anomalies. In addition, >100 minor criteria have been described with two major and one minor criteria or one major and three minor criteria necessary for confirmatory diagnosis. It is a rare syndrome having an estimated incidence of 1 in 50,000–150,000 in the general population with a 3:1 male/female gender predilection. Here, we report the case of a 14-year-old female patient diagnosed with Gorlin syndrome.

Source: Journal of Oral and Maxillofacial Pathology - January 9, 2021 Category: ENT & OMF Authors: Sandhya Shrivastava Sushruth Nayak Prachi Nayak Sourabh Sahu Source Type: research