Document Detail

Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.
MedLine Citation:
PMID:  16906569     Owner:  NLM     Status:  MEDLINE    
We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families with confirmed heterozygous mutations in the Patched (PTCH) gene. The PTCH protein is a negative regulator of Hedgehog signaling, and the Sonic Hedgehog (SHH)-PTCH pathway is known to play an important role in the formation and cycling of the hair follicle. We believe that the patches represent a genuine physical sign associated with Gorlin syndrome, and discuss molecular mechanisms by which they might arise.
Louise C Wilson; Ekundayo Ajayi-Obe; Birgitta Bernhard; Saskia M Maas
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  140     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2006 Dec 
Date Detail:
Created Date:  2006-11-27     Completed Date:  2007-02-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2625-30     Citation Subset:  IM    
Clinical & Molecular Genetics Unit, Institute of Child Health & Great Ormond Street Hospital, London, UK.
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MeSH Terms
Basal Cell Nevus Syndrome / genetics,  pathology*
Child, Preschool
Hair / growth & development*
Hair Follicle / growth & development
Hypertrichosis / genetics,  pathology
Models, Biological
Receptors, Cell Surface / genetics*
Reg. No./Substance:
0/Receptors, Cell Surface; 0/patched receptors

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

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