Document Detail


Birt-Hogg-Dubé syndrome and the skin.
MedLine Citation:
PMID:  23307118     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Birt-Hogg-Dubé syndrome (MIM #135150) is characterized by the development of benign skin tumours called fibrofolliculomas, pulmonary cysts that may lead to pneumothorax and a high risk of developing kidney cancer. BHD is caused by mutations affecting the highly conserved protein folliculin (FLCN), which probably has a role in intracellular transport. Most of the research effort directed towards BHD has focused on understanding how loss of FLCN causes kidney cancer. The cutaneous manifestations have received comparatively little attention. Although understandable, it is unfortunate, as the fibrofolliculomas are highly accessible and thus potentially are an excellent system for trying to understand the basic pathobiology of BHD. Also, patients can be very much burdened by the cosmetic consequences of having hundreds of facial skin tumours. Our lack of insight into what drives fibrofolliculoma growth translates into a very limited therapeutic arsenal. Thus, paying attention to fibrofolliculomas has both basic science and practical benefits. In this review, we will discuss the state of the art regarding our understanding of fibrofolliculoma pathogenesis and indicate future directions for research.
Authors:
Marigje Vernooij; Tijs Claessens; Monique Luijten; Maurice A M van Steensel; Barry J Coull
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Familial cancer     Volume:  12     ISSN:  1573-7292     ISO Abbreviation:  Fam. Cancer     Publication Date:  2013 Sep 
Date Detail:
Created Date:  2013-10-08     Completed Date:  2014-05-22     Revised Date:  2014-06-12    
Medline Journal Info:
Nlm Unique ID:  100898211     Medline TA:  Fam Cancer     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  381-5     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Birt-Hogg-Dube Syndrome / complications*
Humans
Skin Diseases / diagnosis,  etiology*,  therapy
Grant Support
ID/Acronym/Agency:
11-0226//Worldwide Cancer Research

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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