Gorlin-Goltz syndrome in twin brothers: an unusual occurrence with review of the literature.

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.

• Authors: Sonal Anchlia, Siddharth Vyas, Sumit Bahl, Vipul Nagavadiya
• Journal: BMJ case reports (BMJ Case Rep) Vol. 2015 (Aug 21 2015) ISSN: 1757-790X [Electronic] England
• PMID: 26297769 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: 2015 BMJ Publishing Group Ltd.

Topics

• Adolescent
• Basal Cell Nevus Syndrome (diagnosis)
• Calcinosis (diagnostic imaging)
• Humans
• Imaging, Three-Dimensional
• Male
• Radiography
• Skull (diagnostic imaging)
• Spinal Dysraphism (diagnostic imaging)
• Twins