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Inflammatory peeling skin syndrome caused a novel mutation in CDSN

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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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Acknowledgments

The authors would like to thank the family members for their participation to this study and Dr. Tslil Ophir for expert assistance in DNA sequencing.

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Authors and Affiliations

  1. Department of Dermatology, Tel Aviv Sourasky Medical Center, 6, Weizmann Street, 64239, Tel Aviv, Israel

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

  2. Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel-Aviv University, Ramat Aviv, Israel

    Dana Fuchs Telem, Shirli Israeli & Eli Sprecher

Authors
  1. Dana Fuchs Telem
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  2. Shirli Israeli
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  3. Ofer Sarig
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  4. Eli Sprecher
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Correspondence to Eli Sprecher.

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Telem, D.F., Israeli, S., Sarig, O. et al. Inflammatory peeling skin syndrome caused a novel mutation in CDSN . Arch Dermatol Res 304, 251–255 (2012). https://doi.org/10.1007/s00403-011-1195-z

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  • DOI: https://doi.org/10.1007/s00403-011-1195-z

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