Proteins that are mutated in peeling skin disorders are components of corneodesmosomes (CDSN, DSG1) or protease inhibitors (LEKTI, CSTA, CAST, or SERPIN8).
In this issue, Israeli and colleagues confirm that homozygous mutations in corneodesmosin (CDSN) cause type B peeling skin syndrome (PSS), an autosomal recessive skin disorder.
First, hypotrichosis simplex of the scalp in which mutated CDSN accumulates in the dermis and forms amyloid deposits; then, peeling skin disease in which the genetic defect induces dyscohesion of the stratum corneum, responsible for abnormal desquamation and increased skin penetration of allergens.