title: Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis.
abstract: In this issue, Israeli and colleagues confirm that homozygous mutations in corneodesmosin (CDSN) cause type B peeling skin syndrome (PSS), an autosomal recessive skin disorder. The deletion mutation described resulted in a frameshift, producing a downstream premature stop codon and early truncation of the protein. The recently described CDSN nonsense mutation in another PSS family also resulted in protein truncation and nonsense-mediated mRNA decay. Type B generalized PSS can now be clearly distinguished from acral PSS, caused by mutations in transglutaminase 5. This directly affects cornified envelope cross-linking rather than corneodesmosome adherence. These observations provide new insight into the molecular defects underlying two closely related forms of PSS.
authors.affiliation: Department of Dermatology and Wound Healing, School of Medicine, Cardiff University, Heath Park, Cardiff, UK. bowden@cardiff.ac.uk
authors.forename: Paul E
authors.initials: PE
authors.lastname: Bowden
mesh_terms: D003873:Dermatitis, Exfoliative / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D020125:Mutation, Missense / Q000235:genetics*; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics; D012871:Skin Diseases / Q000151:congenital; D011503:Transglutaminases / Q000235:genetics
chemical_list: C109656:CDSN protein, human; D006023:Glycoproteins; D036341:Intercellular Signaling Peptides and Proteins; C418703:transglutaminase 5; D011503:Transglutaminases