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

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.

SUBMITTER: Kavaklieva S

PROVIDER: S-EPMC3764946 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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

Kavaklieva S S Yordanova I I Bruckner-Tuderman L L Has C C

Case reports in dermatology 20130807 2

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 des ...[more]

PMID: 24019772

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