Document Detail

Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome.
MedLine Citation:
PMID:  17551339     Owner:  NLM     Status:  MEDLINE    
CFC syndrome is a genetically heterogenous condition. Missense mutations have been identified in BRAF, KRAS, MEK1 and MEK2. We have reported here a KRAS mutation in a baby girl with an early clinical diagnosis of CFC syndrome associated with a large ulcerating hemangioma. Although ectodermal abnormalities have been described in all individuals with this condition, features such as ichthyosis and hemangioma have been previously found only in those patients carrying a mutation in BRAF, and not in KRAS. The findings we have described contrast with these observations. The relatively high frequency of hemangiomas in CFC syndrome suggests that defects in the expression of the MAPK pathway may alter endothelial cell proliferation. Increased understanding of how the molecular pathways with which defects in CFC syndrome predispose affected individuals to hemangiomas might offer insights into the pathogenesis of this common childhood tumour in the general population.
Ben Tang; Willie Reardon; Graeme C Black; Bronwyn A Kerr
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  16     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2007 Jul 
Date Detail:
Created Date:  2007-06-06     Completed Date:  2007-08-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  203-6     Citation Subset:  IM    
Academic Unit of Medical Genetics and Regional Genetic Service, Central Manchester and Manchester University Hospital NHS Trust, Manchester, UK.
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MeSH Terms
Abnormalities, Multiple / genetics*
Base Sequence
DNA Mutational Analysis
Hemangioma / complications*,  congenital*
Infant, Newborn
Molecular Sequence Data
Mutation / genetics*
Proto-Oncogene Proteins / genetics*
ras Proteins / genetics*
Reg. No./Substance:
0/KRAS protein, human; 0/Proto-Oncogene Proteins; EC Proteins

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

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