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

[epidermolysis bullosa simplex]

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 TGM 5 mutations : c .2 T >C , p .M 1 T in exon 1 and c .337 G >T , p .G 113 C 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 .

Diseases
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Diseases presenting "flaccid blisters" symptom

epidermolysis bullosa simplex

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