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Journal of Skin Cancer
Volume 2011, Article ID 217378, 6 pages
http://dx.doi.org/10.1155/2011/217378
Clinical Study

Basal Cell Carcinomas in Gorlin Syndrome: A Review of 202 Patients

1Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and St Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK
2University of Manchester, Oxford Road, Manchester M13 9PL, UK

Received 30 June 2010; Accepted 29 July 2010

Academic Editor: Arash Kimyai-Asadi

Copyright © 2011 Elizabeth A. Jones et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome) is a rare autosomal dominant syndrome caused by mutations in the PTCH gene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and also have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients also have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden.