Article Dans Une Revue Journal of Clinical Immunology Année : 2022

Peeling Skin Syndrome Type 1

Résumé

Peeling skin syndrome type 1 (PSS1) (OMIM #270,300) is a very rare autosomal-recessive genetic disease due to loss-of-function mutations in CDSN which encodes corneodesmosin [1], an adhesive protein specific to corneodesmosomes, the adhesive junctions of the stratum corneum. Patients present with continuous superficial peeling and inflammatory skin. Associated findings include severe refractory pruritus, skin infections, growth delay in infancy, and atopic manifestations (food allergy, urticaria, asthma). Quality of life (QOL) is often impaired and there is no effective therapy. Emollients are commonly used but are of limited efficacy.

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Dates et versions

hal-04069521 , version 1 (14-04-2023)

Identifiants

Citer

Barranca Alexis, Jonca Nathalie, Martin-Blondel Audrey, Apoil Pol-André, Mazereeuw-Hautier Juliette. Peeling Skin Syndrome Type 1. Journal of Clinical Immunology, 2022, 42 (4), pp.873-875. ⟨10.1007/s10875-021-01194-1⟩. ⟨hal-04069521⟩
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