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

Kowalska, M; Wertheim–Tysarowska, Katarzyna; Kowalik, Artur; Góźdż, Stanisław; Woźniak, Katarzyna; Kowaléwski, Cezary

doi:10.5114/dr.2015.55697

Cited by 1 publication

(2 citation statements)

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“…Milia and scarring, not observed in APSS, may also be clinically present [5,10]. A common feature of both disease entities is the presence of skin lesions on the hands and feet, exacerbated by trauma and high temperatures [10,11]. Recommendations for the diagnosis and classification of epidermolysis bullosa simplex were updated in 2014.…”

Section: Case Reportmentioning

confidence: 99%

“…Klinicznie mogą występować również prosaki oraz bliznowacenie, nieobserwowane w APSS [5,10]. Cechą wspólną obu jednostek chorobowych jest obecność zmian skórnych na rękach i stopach, zaostrzenie pod wpływem urazu i wysokiej temperatury [10,11]. W 2014 roku zaktualizowano zalecenia dotyczące diagnozy i klasyfikacji pęcherzowego oddzielania się naskórka.…”

Section: Case Reportunclassified

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Acral peeling skin syndrome

Gierach,

Kępczyński

2023

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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.

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