Inflammatory peeling skin syndrome caused a novel mutation in CDSN

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

Research output: Contribution to journalReview articlepeer-review

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 ampliWcation 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.

Original languageEnglish
Pages (from-to)251-255
Number of pages5
JournalArchives of Dermatological Research
Volume304
Issue number3
DOIs
StatePublished - Apr 2012

Keywords

  • CDSN
  • Mutation
  • Skin

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