Article
Acral peeling skin syndrome associated with a novel CSTA gene mutation.
Clinical and experimental dermatology - 1 Jun 2016
Muttardi K, Nitoiu D, Kelsell D P, O'Toole E A, Batta K
Abstract excerpt
Acral peeling skin syndrome (APSS) is a rare autosomal recessive condition, characterized by asymptomatic peeling of the skin of the hands and feet, often linked to mutations in the gene TGM5. However, more recently recessive loss of function mutations in CSTA, encoding cystatin A, have been linked with APSS and exfoliative ichthyosis. We describe the clinical features in two sisters with APSS, associated with a...
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