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01-04-2012 | Short Communication

Inflammatory peeling skin syndrome caused a novel mutation in CDSN

Authors: Dana Fuchs Telem, Shirli Israeli, Ofer Sarig, Eli Sprecher

Published in: Archives of Dermatological Research | Issue 3/2012

Abstract

Generalized peeling skin syndrome (PSS) is a rare autosomal recessive dermatosis manifesting with continuous exfoliation of the stratum corneum. The inflammatory (type B) subtype of PSS was recently found to be caused by deleterious mutations in the CDSN gene encoding corneodesmosin, a major component of desmosomal junctions in the uppermost layers of the epidermis. In the present study, we assessed a 10-month-old baby, who presented with generalized superficial peeling of the skin. Using PCR amplification and direct sequencing, we identified the third PSS-associated mutation in CDSN, a homozygous 4 bp duplication in the second exon of the gene (c.164_167dup GCCT; p.Thr57ProfsX6). These data further support the notion that corneodesmosin deficiency impairs cell–cell adhesion in the upper epidermis, paving the way for an abnormal inflammatory response due to epidermal barrier disruption.

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Title: Inflammatory peeling skin syndrome caused a novel mutation in CDSN
Authors: Dana Fuchs Telem
Shirli Israeli
Ofer Sarig
Eli Sprecher
Publication date: 01-04-2012
Publisher: Springer-Verlag
Published in: Archives of Dermatological Research / Issue 3/2012
Print ISSN: 0340-3696
Electronic ISSN: 1432-069X
DOI: https://doi.org/10.1007/s00403-011-1195-z

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Inflammatory peeling skin syndrome caused a novel mutation in CDSN

Abstract

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Abstract

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