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Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation.
MedLine Citation:
PMID:  21929535     Owner:  NLM     Status:  Publisher    
Ichthyosis with confetti (IWC) was first described as ichthyosis en confettis in 1984(1) and subsequently as congenital reticular ichthyosiform erythroderma (CRIE)(2) , also according to the new classification.(3) Patients with IWC suffer from erythroderma, prominent scaling, and palmoplantar keratoderma. Because of the development of hundreds to thousands of pale, normal appearing confetti-like spots during childhood, the disease was named IWC.(1,4) Our female index patient was described in 1990 as the 4(th) patient reported worldwide; at that time she did not show any confetti-like spots.(5) So far only 3 further IWC patients have been clinically described(6-8) . In 2010 Choate et al. published a paper focused on sequence analysis of tissue samples from 10 additional IWC patients of 7 unrelated families. They found a heterozygous frameshift mutation in the keratin 10 (KRT10) gene present in the ichthyotic but not in the normal-appearing skin of the patients, leading to an arginine-rich tail of the protein.(9) The SNP genotyping revealed a LOH of the mutant allele in the normal-appearing spots. The expanse of the LOH was shown to differ in each spot, indicating separate events. Here, we report on a patient, who was periodically examined at our clinic from birth until adulthood, hence we are able to describe the natural course of IWC in detail for the first time. We furthermore identified 2 novel deletions in KRT10, one of them leading to a frameshift and consequently to an arginine tail of the keratin 10 (K10). Our report is the first independent confirmation of the KRT10 gene defect and revertant mosaicism mechanism in patients with IWC and it expands the clinical findings.
B Burger; I Spoerri; M Schubert; C Has; P H Itin
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-9-20
Journal Detail:
Title:  The British journal of dermatology     Volume:  -     ISSN:  1365-2133     ISO Abbreviation:  -     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-9-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0004041     Medline TA:  Br J Dermatol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 British Association of Dermatologists.
Department of Biomedicine, Research Group of Dermatology, University Hospital Basel, Switzerland Department of Dermatology, University Medical Center Freiburg, Germany.
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