Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy

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Abstract

The acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at the stratum granulosum and stratum corneum level [Kiritsi et al.: J Invest Dermatol 2010;130:1741-1746]. We report on a 10-month-old boy with a history of skin peeling limited to the hands and feet since 2 months of age. Clinical examination revealed erythematous erosions with peripheral desquamation and flaccid blisters. DNA mutation analysis detected two heterozygous TGM5 mutations: c.2T>C, p.M1T in exon 1 and c.337G>T, p.G113C in exon 3 in keeping with the diagnosis of APSS. The clinical presentation of APSS alone might be confusing and strongly resemble epidermolysis bullosa simplex making the differential diagnosis difficult. © 2013 S. Karger AG, Basel.

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Kavaklieva, S., Yordanova, I., Bruckner-Tuderman, L., & Has, C. (2013). Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. Case Reports in Dermatology, 5(2), 210–214. https://doi.org/10.1159/000354572

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