PSS often presents in infancy but can present in late childhood and occasionally adulthood. Skin loss in PSS is generally asymptomatic but is occasionally pruritic. Peeling is worsened by trauma, friction, humidity, heat, and water exposure.
PSS is divided into generalized and acral subtypes. Generalized PSS causes diffuse skin shedding that typically spares mucosal surfaces, palms, and soles. It may be noninflammatory (type A) or inflammatory (type B).
- Noninflammatory PSS is asymptomatic and has been associated with hyperpigmentation. Mutations in the CHST8 gene, in the SERPINB8 gene, and most recently, the FLG2 gene that encodes filaggrin, have been found.
- Inflammatory PSS can present with erythema, pruritus, and occasional flaccid vesicles. It can worsen during summer months. An association with atopy and high IgE levels may be seen. Loss of function mutations in the CDSN gene is responsible.
- Acral PSS (APSS) is a localized disease involving the dorsal and volar surfaces of the hands and feet. Mutations in the transglutaminase 5 (TGM5) gene or the cystatin A (CSTA) gene are responsible.