Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies

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 co...

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Bibliographic Details
Published inJournal of clinical immunology Vol. 42; no. 4; pp. 873 - 875
Main Authors Alexis, Barranca, Nathalie, Jonca, Audrey, Martin-Blondel, Pol-André, Apoil, Juliette, Mazereeuw-Hautier
Format Journal Article
LanguageEnglish
Published New York Springer US 01.05.2022
Springer Nature B.V
Springer Verlag
Subjects
Antibodies, Monoclonal, Humanized / therapeutic use
Biomedical and Life Sciences
Biomedicine
Dermatitis, Exfoliative
Human health and pathology
Humans
Immunoglobulin E
Immunology
Infectious Diseases
Internal Medicine
Letter to Editor
Life Sciences
Medical Microbiology
Skin
Skin Diseases, Genetic
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Summary: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.
Bibliography:SourceType-Other Sources-1
content type line 63
ObjectType-Correspondence-1
ISSN:0271-9142
1573-2592
DOI:10.1007/s10875-021-01194-1