Literature DB >> 26297769

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

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.

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Year:  2015        PMID: 26297769      PMCID: PMC4551002          DOI: 10.1136/bcr-2015-211608

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  2 in total

Review 1.  Phenotypic differences in genetically identical organisms: the epigenetic perspective.

Authors:  Albert H C Wong; Irving I Gottesman; Arturas Petronis
Journal:  Hum Mol Genet       Date:  2005-04-15       Impact factor: 6.150

2.  Gorlin-Goltz syndrome: clinicopathologic aspects.

Authors:  Aitziber Ortega García de Amezaga; Olatz García Arregui; Sergio Zepeda Nuño; Amelia Acha Sagredo; José M Aguirre Urizar
Journal:  Med Oral Patol Oral Cir Bucal       Date:  2008-06-01
  2 in total

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