Rarely occurring genodermatosis (acral peeling skin syndrome) – case report. Literature review of localized and generalized variants

Introduction. Acral peeling skin syndrome (APSS) is a rare autosomal recessive genodermatosis. Superficial exfoliation of the epidermis and unstable blister formation within the hands and feet constitute the typical picture. Confirmation of diagnosis is based on the presence of mutation in the TGM5 gene that encodes transglutaminase 5. Pathogenic mutations in TGM5 eliminate catalytic activity of the enzyme. In APSS patients mutations are homozygous or compound heterozygous. The most frequent mutation is p.Gly113Cys, which lies close to the catalytic domain of TGM5.

Objective. To present a rare case of genodermatosis – acral peeling skin syndrome – and to discuss the genetic background of the localized and generalized form of this disease.

Case report. The case of a five-year-old girl with non-inflammatory shedding and short lasting blisters of the outer epidermis on the palms is presented. Exacerbation occurs during hot seasons.

Conclusions. Due to frequent occurrence of misdiagnosis between APSS and epidermolysis bullosa simplex, clinical and genetic aspects of both diseases are discussed. A review of the literature concerns the localized form (APSS) and generalized inflammatory type B (PSS-B). The mutation of the corneodesmosin (CDSN) plays the main role in PSS-B. Destruction of the epidermal barrier and loss of corneum envelope stability are the main damage. Investigations in this field may provide a model for understanding the pathogenesis of such diseases as atopy, ichthyosis, psoriasis and Netherton syndrome.