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: S Kavaklieva, I Yordanova, L Bruckner-Tuderman, C Has
• Journal: Case reports in dermatology (Case Rep Dermatol) Vol. 5 Issue 2 Pg. 210-4 ( 2013) ISSN: 1662-6567 [Print] Switzerland
• PMID: 24019772 (Publication Type: Case Reports)