| Literature DB >> 26297769 |
Sonal Anchlia1, Siddharth Vyas1, Sumit Bahl2, Vipul Nagavadiya1.
Abstract
Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is caused by genetic alteration produced by a mutation in the 'patched' tumour suppressor gene, and is inherited in a dominant autosomal way. Although sporadic cases have been found, this syndrome has rarely been reported in twin patients. The syndrome is characterised by a wide range of developmental abnormalities and has a predisposition to neoplasms such as multiple pigmented basal cell carcinomas and keratocysts in jaws; it also has other features such as palmar and/or plantar pits and calcification of falx cerebri. Owing to the critical oral and maxillofacial manifestations of this syndrome, it is important to recognise its characteristics in order to make a diagnosis, and to plot early preventive treatment and establish the right genetic evidence. Based on a combination of imaging, clinical and histopathological findings, we present a diagnosed case of Gorlin-Goltz syndrome in 18-year-old twin brothers. All cystic lesions were enucleated and 1 year follow-up showed no recurrence. 2015 BMJ Publishing Group Ltd.Entities:
Mesh:
Year: 2015 PMID: 26297769 PMCID: PMC4551002 DOI: 10.1136/bcr-2015-211608
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X