ArticleJournal of oral and maxillofacial pathology : JOMFP
Gorlin syndrome: A rare case report.
Article in Journal of oral and maxillofacial pathology : JOMFP. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed, 3 citations in OpenAlex.
- An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome.The American journal of case reports · 2023Article
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Authors and funding
4 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
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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