title: 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.
authors.affiliation: Royal Lancaster Infirmary, University Hospitals of Morecambe Bay NHS Foundation Trust, Lancaster, UK.
authors.forename: S
authors.initials: S
authors.lastname: Kavaklieva
authors.forename: I
authors.initials: I
authors.lastname: Yordanova
authors.forename: L
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.forename: C
authors.initials: C
authors.lastname: Has
keywords: Acral peeling skin syndrome; CSTA gene; TGM5 gene
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