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Clin Exp Dermatol. 2016 Jun;41(4):394-8. doi: 10.1111/ced.12777. Epub 2015 Dec 18.

Acral peeling skin syndrome associated with a novel CSTA gene mutation.

Author information

1
Department of Dermatology, Watford General Hospital, Watford, Hertfordshire, UK.
2
Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

Abstract

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 novel large homozygous deletion encompassing exon 1 of CSTA.

PMID:
26684698
DOI:
10.1111/ced.12777
[Indexed for MEDLINE]

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