Acral Peeling Skin Syndrome: A Rare Skin Disorder

Abstract

Objective − We report the case of an 8-year-old girl with acral peeling skin syndrome.

Case Report − A previously healthy 8-yearold girl presented with a history of flaccid bullous lesions on the plantar surface of her feet, and subsequent peeling and scarring since she was 12 months old. A biopsy of the plantar lesion was carried out and histological examination revealed an acral skin flap characterized only by the presence of an intracorneal bullous cleft, with hypogranulosis and focal parakeratosis. A genetic study was carried out, identifying two pathogenic heterozygous variants in the TGM5 gene. The clinical presentation, histological and genetic examination confirmed the diagnosis of acral peeling skin syndrome.

Conclusion − Acral peeling skin syndrome is not a widely known pathology, which means that cases of acral peeling skin syndrome can be misdiagnosed as Epidermolysis bullosa simplex, especially when a genetic study is not available. Particularly in younger children, it is important not to underestimate the diagnosis of acral peeling skin syndrome, given the different prognostic implications between the two diagnoses.