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Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation

Burger, B. and Spoerri, I. and Schubert, M. and Has, C. and Itin, P. H.. (2012) Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation. British journal of dermatology, Vol. 166, H. 2. pp. 434-439.

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Official URL: http://edoc.unibas.ch/dok/A6338442

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Abstract

Ichthyosis with confetti (IWC) was first described as ichthyose en confettis and subsequently as congenital reticular ichthyosiform erythroderma. Because of the development of hundreds to thousands of pale, normal-appearing confetti-like spots during childhood, the disease was named IWC. Patients with IWC show erythroderma, prominent scaling and palmoplantar keratoderma. Our female index patient was described in 1990 as the fourth patient reported worldwide; at that time she did not show any confetti-like spots. She 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 two novel deletions in KRT10, one of them leading to a frameshift and consequently to an arginine tail of keratin 10. 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.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Dermatology (Itin)
UniBasel Contributors:Itin, Peter and Burger, Bettina
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Lewis
ISSN:0007-0963
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:08 May 2015 08:45
Deposited On:08 May 2015 08:45

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