西亚试剂：Loss of Corneodesmosin Leads to Severe Skin Barrier Defect,

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease
Vinzenz Oji1, 8, Katja-Martina Eckl2, 3, 8, Karin Aufenvenne1, Marc N?tebus2, Tatjana Tarinski1, Katharina Ackermann4, Natalia Seller1, Dieter Metze1, Gudrun Nürnberg2, Regina F?lster-Holst5, Monika Sch?fer-Korting4, Ingrid Hausser6, Heiko Traupe1 and Hans Christian Hennies2, 7

1 Department of Dermatology, University Hospital Münster, 48149 Münster, Germany
2 Cologne Center for Genomics, Division of Dermatogenetics, University of Cologne, 50931 Cologne, Germany
3 Center for Physiology and Pathophysiology, Institute for Neurophysiology, University of Cologne, 50931 Cologne, Germany
4 Pharmacology, Institute for Pharmacy, Freie Universit?t Berlin, 14195 Berlin, Germany
5 University Clinic of Dermatology, 24105 Kiel, Germany
6 Department of Dermatology, University Hospital Heidelberg, 69115 Heidelberg, Germany
7 Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany

Generalized peeling skin disease is an autosomal-recessive ichthyosiform erythroderma characterized by lifelong patchy peeling of the skin. After genome-wide linkage analysis, we have identified a homozygous nonsense mutation in CDSN in a large consanguineous family with generalized peeling skin, pruritus, and food allergies, which leads to a complete loss of corneodesmosin. In contrast to hypotrichosis simplex, which can be associated with specific dominant CDSN mutations, peeling skin disease is characterized by a complete loss of CDSN expression. The skin phenotype is consistent with a recent murine Cdsn knockout model. Using three-dimensional human skin models, we demonstrate that lack of corneodesmosin causes an epidermal barrier defect supposed to account for the predisposition to atopic diseases, and we confirm the role of corneodesmosin as a decisive epidermal adhesion molecule. Therefore, peeling skin disease will represent a new model disorder for atopic diseases, similarly to Netherton syndrome and ichthyosis vulgaris in the recent past.

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