title: Inflammatory peeling skin syndrome caused a novel mutation in CDSN.
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.
authors.affiliation: Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: Dana Fuchs
authors.initials: DF
authors.lastname: Telem
authors.forename: Shirli
authors.initials: S
authors.lastname: Israeli
authors.forename: Ofer
authors.initials: O
authors.lastname: Sarig
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D001483:Base Sequence; D003873:Dermatitis, Exfoliative / Q000235:genetics* / Q000473:pathology; D003896:Desmosomes / Q000235:genetics; D005260:Female; D006023:Glycoproteins / Q000235:genetics*; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007223:Infant; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D013577:Syndrome
chemical_list: C109656:CDSN protein, human; D006023:Glycoproteins; D036341:Intercellular Signaling Peptides and Proteins