Document Detail

A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa.
MedLine Citation:
PMID:  19486058     Owner:  NLM     Status:  MEDLINE    
We report a Japanese infant who had a novel de novo splice-site mutation in the COL7A1 gene, which resulted in in-frame exon 87 skipping. Very interestingly, most of the previously reported cases with the same exon skipping presented as dystrophic epidermolysis bullosa (DEB) pruriginosa. The proband in this study showed an extremely mild clinical phenotype, with no nail dystrophy, pruritus or prurigo-like lesions. However, dominant (DDEB) pruriginosa often shows a typical mild DEB phenotype until the onset of pruritus, making it likely that as she gets older the proband will present with features consistent with DDEB pruriginosa. By knowing in advance the anticipated clinical course, it might be possible to reduce or even prevent development of nodular prurigo-like lesions by sufficient control of pruritus. Our study should contribute to further refinement of the genotype-phenotype correlations in DEB, emphasizing the significance of mutation analysis for correct diagnosis and possibly for prediction of prognosis.
M Saito; T Masunaga; A Ishiko
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2009-05-26
Journal Detail:
Title:  Clinical and experimental dermatology     Volume:  34     ISSN:  1365-2230     ISO Abbreviation:  Clin. Exp. Dermatol.     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2010-01-08     Completed Date:  2010-08-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7606847     Medline TA:  Clin Exp Dermatol     Country:  England    
Other Details:
Languages:  eng     Pagination:  e934-6     Citation Subset:  IM    
Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
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MeSH Terms
DNA Mutational Analysis
DNA, Recombinant / genetics
Epidermolysis Bullosa Dystrophica / genetics,  pathology*
Prurigo / genetics,  pathology*
Reg. No./Substance:
0/DNA, Recombinant

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