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An Official Publication of the Indian Association of Oral and Maxillofacial Pathologists

Year : 2020  |  Volume : 24  |  Issue : 3  |  Page : 591-592
Gorlin syndrome: A rare case report

1 Department of Oral Pathology and Microbiology, New Horizon Dental College and Research Institute, Bilaspur, Chhattisgarh, India
2 Department of Oral Pathology and Microbiology, M.M. College of Dental Sciences and Research, M.M (Deemed to be University), Mullana (Ambala), Haryana, India
3 Department of Oral Surgery, Government Dental College, Raipur, Chhattisgarh, India

Correspondence Address:
Sushruth Nayak
Department of Oral Pathology and Microbiology, M.M. College of Dental Sciences and Research, M.M (Deemed to be University), Mullana (Ambala) - 133 207, Haryana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0973-029X.190048

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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.

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Journal of Oral and Maxillofacial Pathology | Published by Wolters Kluwer - Medknow
Online since 15th Aug, 2007