Peeling Skin Syndrome 1; Pss1

Description

Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by Hacham-Zadeh and Holubar, 1985).Generalized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by Mallet et al., 2013). Genetic Heterogeneity of Peeling Skin SyndromePeeling skin syndrome-2 (PSS2 ), an acral form of the disorder that mainly involves palmar and plantar skin, is caused by mutation in the TGM5 gene (OMIM ) on chromosome 15q15. Peeling skin syndrome-3 (PSS3 ) is caused by mutation in the CHST8 gene (OMIM ) on chromosome 19q13. Peeling skin syndrome-4 (PSS4 ) is caused by mutation in the CSTA gene (OMIM ) on chromosome 3q21. Peeling skin syndrome-5 (PSS5 ) is caused by mutation in the SERPINB8 gene (OMIM ) on chromosome 18q22. PSS6 (OMIM ) is caused by mutation in the FLG2 gene (OMIM ) on chromosome 1q21.

Clinical Features

• Short stature
• Edema
• Abnormality of metabolism/homeostasis
• Alopecia
• Hyperkeratosis
• Erythema
• Skin rash
• Pruritus
• Ichthyosis
• Palmoplantar keratoderma

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