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 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.