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Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

Oji, V., Eckl, K.M., Aufenvenne, K., Natebus, M., Tarinski, T., Ackermann, K., Seller, N., Metze, D., Nürnberg, G., Fölster-Holst, R., Schäfer-Korting, M., Hausser, I., Traupe, H. and Hennies, Hans C. (2010) Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. American Journal of Human Genetics, 87 (2). pp. 274-281. ISSN 1537-6605

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Abstract

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.

Item Type: Article
Additional Information: Unmapped bibliographic data: ST - Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease [Field not mapped to EPrints] LB - 90 [Field not mapped to EPrints] RP - Not in File [Field not mapped to EPrints]
Uncontrolled Keywords: analysis
Subjects: Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
Schools: School of Applied Sciences
Related URLs:
Depositing User: Hans Hennies
Date Deposited: 12 Jul 2016 11:17
Last Modified: 29 Jul 2016 15:00
URI: http://eprints.hud.ac.uk/id/eprint/28789

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