title: Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene.
abstract: Peeling skin syndrome (PSS) type B is a rare recessive genodermatosis characterized by lifelong widespread, reddish peeling of the skin with pruritus. The disease is caused by small-scale mutations in the Corneodesmosin gene (CDSN) leading to premature termination codons. We report for the first time a Japanese case resulting from complete deletion of CDSN. Corneodesmosin was undetectable in the epidermis, and CDSN was unamplifiable by PCR. QMPSF analysis demonstrated deletion of CDSN exons inherited from each parent. Deletion mapping using microsatellite haplotyping, CGH array and PCR analysis established that the genomic deletion spanned 49-72 kb between HCG22 and TCF19, removing CDSN as well as five other genes within the psoriasis susceptibility region 1 (PSORS1) on 6p21.33. This observation widens the spectrum of molecular defects underlying PSS type B and shows that loss of these five genes from the PSORS1 region does not result in an additional cutaneous phenotype.
authors.affiliation: Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.
authors.forename: Akemi
authors.initials: A
authors.lastname: Ishida-Yamamoto
authors.forename: Laetitia
authors.initials: L
authors.lastname: Furio
authors.forename: Satomi
authors.initials: S
authors.lastname: Igawa
authors.forename: Masaru
authors.initials: M
authors.lastname: Honma
authors.forename: Elodie
authors.initials: E
authors.lastname: Tron
authors.forename: Valerie
authors.initials: V
authors.lastname: Malan
authors.forename: Masamoto
authors.initials: M
authors.lastname: Murakami
authors.forename: Alain
authors.initials: A
authors.lastname: Hovnanian
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003873:Dermatitis, Exfoliative / Q000235:genetics* / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D006023:Glycoproteins / Q000235:genetics*; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D007564:Japan; D008297:Male; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology
chemical_list: C109656:CDSN protein, human; D006023:Glycoproteins; D036341:Intercellular Signaling Peptides and Proteins
keywords: PSORS1; corneodesmosin; peeling skin syndrome