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eISSN: 2084-9893
ISSN: 0033-2526
Dermatology Review/Przegląd Dermatologiczny
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SCImago Journal & Country Rank
4/2023
vol. 110
 
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abstract:
Case report

Acral peeling skin syndrome

Daria Gierach
1
,
Łukasz Kępczyński
2

  1. Department of Dermatology and Venereology, University Clinical Hospital named after Military Medical Academy, Lodz, Poland; Klinika Dermatologii i Wenerologii, Uniwersytecki Szpital Kliniczny im. Wojskowej Akademii Medycznej, Łódź, Polska
  2. Department of Genetics, Institute of the Polish Mother’s Healthcare Centre, Lodz, Poland; Zakład Genetyki, Instytut Centrum Zdrowia Matki Polki, Łódź, Polska
Dermatol Rev/Przegl Dermatol 2023, 110, 567-573
Online publish date: 2023/11/17
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Introduction:
Acral peeling skin syndrome is a rare syndrome inherited in an autosomal recessive manner. A mutation in the gene encoding transglutaminase 5 is responsible for the onset of the disease. Initial symptoms manifest in early childhood. Clinically, it is characterised by exfoliation of the epidermis of the hands and feet. Skin lesions are exacerbated during periods of increased humidity and ambient temperature, increased sweating and as a result of trauma.

Objective:
To present the case of a 13-year-old boy diagnosed with acral peeling skin syndrome.

Case report:
A 13-year-old patient presented to the dermatology clinic with flaccid blisters and exfoliation on the feet. The skin lesions were exacerbated during periods of increased sweating. A p.Gly113Cys mutation was detected in both alleles of the TGM5 gene.

Conclusions:
We present this case because of the rare occurrence of acral peeling skin syndrome in the population. The disease can be a challenge to diagnose due to its significant similarity to dyshidrotic eczema, with which it is often confused.

keywords:

genodermatosis, acral peeling skin syndrome, TGM5 mutation, exfoliation



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