Document Detail


A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
MedLine Citation:
PMID:  9036939     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Annular epidermolytic ichthyosis has recently been delineated as a distinct clinical phenotype within the spectrum of epidermolytic keratinization disorders. The pattern of inheritance of the disorder is consistent with an autosomal dominant mode of transmission. Here we report a second incidence of this disorder in a family with two affected generations. The proband suffered from bullous ichthyosis and had bouts of disease activity associated with the development of numerous annular and polycyclic erythematous, hyperkeratotic plaques on the trunk and the proximal extremities. Histologic examination showed the typical pathology of epidermolytic hyperkeratosis, and ultrastructural analysis revealed abnormal keratin filament networks and tonofilament clumping with a perinuclear distribution. Molecular analysis revealed a novel tandem CG to GA 2-bp mutation in the same allele of keratin 10 in affected individuals, resulting in an arginine to glutamate substitution at residue 83 (R83E) of the 2B helical segment. We conclude that annular epidermolytic ichthyosis should be considered a variant of bullous congenital ichthyosiform erythroderma.
Authors:
G Y Joh; H Traupe; D Metze; D Nashan; M Huber; D Hohl; M A Longley; J A Rothnagel; D R Roop
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Journal of investigative dermatology     Volume:  108     ISSN:  0022-202X     ISO Abbreviation:  J. Invest. Dermatol.     Publication Date:  1997 Mar 
Date Detail:
Created Date:  1997-03-13     Completed Date:  1997-03-13     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0426720     Medline TA:  J Invest Dermatol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  357-61     Citation Subset:  IM    
Affiliation:
Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, U.S.A.
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MeSH Terms
Descriptor/Qualifier:
Adult
Alleles
Biopsy
Extremities / pathology
Female
Genetic Variation
Humans
Hyperkeratosis, Epidermolytic / diagnosis,  genetics*,  pathology
Keratins / genetics*
Male
Pedigree
Phenotype
Point Mutation*
Sequence Analysis, DNA
Skin / ultrastructure
Grant Support
ID/Acronym/Agency:
(HD25479)/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
68238-35-7/Keratins

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


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