The Gorlin-Goltz syndrome: a sporadic case
Kawtar Inani, Fatimazahra Mernissi
The Pan African Medical Journal. 2014;17:55. doi:10.11604/pamj.2014.17.55.3212

Create an account  |  Sign in
African Case Studies Case studies in Public health
"Better health through knowledge sharing and information dissemination "

Images in medicine

The Gorlin-Goltz syndrome: a sporadic case

Cite this: The Pan African Medical Journal. 2014;17:55. doi:10.11604/pamj.2014.17.55.3212

Received: 11/08/2013 - Accepted: 10/11/2013 - Published: 25/01/2014

Key words: Gorlin-Goltz syndrome, basal cell nevus syndrome, hereditary disorder

© Kawtar Inani et al. The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Available online at: http://www.panafrican-med-journal.com/content/article/17/55/full

Corresponding author: Kawtar Inani, Service de Dermatologie, CHU Hassan II, Fez, Morocco (docteurkawtar@gmail.com)


The Gorlin-Goltz syndrome: a sporadic case

 

Kawtar Inani1,&, Fatimazahra Mernissi1

 

1Service de Dermatologie, CHU Hassan II, Fez, Morocco

 

 

&Corresponding author
Kawtar Inani, Service de Dermatologie, CHU Hassan II, Fez, Morocco

 

 

Image in medicine

Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon autosomal dominant hereditary disorder; which is characterized by numerous basal cell carcinomas, maxillary keratocysts and bones malformations. It results from a mutation of the PATCHED gene. The estimate incidence for a general population is 1/50000 to 1/150000. We present a 30 year-old woman, with no similar familial case, who had a repeatedly dental abscesses since the age of 15 years, she consulted for papulonodular lesions that have appeared at the age of eighty. Those lesions were localized on the face and the trunk, reminiscent of basal cell carcinomas. The clinical examination found papulonodular lesions, a mandibular fistula, broadened nasal root, palmer pits and a swelling at the right big toe. The dermoscopic examination of the papulonodular lesions showed a kind of trunk tree arborisation. The biopsy excision of the swelling at the right toe and papulonodulor lesions, revealed respectively an epidermoid cyst and basal cell carcinomas. Radiographic examination showed a calcified falx cerebri calcification, bifid ribs, synostosis, wedged, scoliosis and agenesis of the left kidney. Our patient was treated by a surgical excision of skin lesion with a setting flat of a mandibular fistula. Also a photoprotection was recommended and a regular monitoring of the skin lesions. The Evolution was marked by the emergence of new basal cell carcinomas treated by photodynamic therapy.

Figure 1: A) papulonodular lesions and a broadened nasal root; B) A mandibular fistula; C)MRI image shows a calcified falx cerebri calcification; D) palmer pits

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 


The Pan African Medical Journal articles are archived on Pubmed Central. Access PAMJ archives on PMC here

Volume 27 (May - August 2017)

Article tools

This article authors

On Pubmed
On Google Scholar

Navigate this article

Rate this article

Altmetric

Popular articles in Images in medicine

PAMJ is a member of the Committee on Publication Ethics

PAMJ is published in collaboration with the African Field Epidemiology Network (AFENET)
Currently tracked by: DOAJ, AIM, Google Scholar, AJOL, EBSCO, Scopus, Embase, IC, HINARI, Global Health, PubMed Central, PubMed/Medline, Ulrichsweb, More to come . Member of COPE.

ISSN: 1937-8688. © 2017 - Pan African Medical Journal. All rights reserved