Acral peeling skin syndrome associated with a novel CSTA gene mutation

K Muttardi; D Nitoiu; D P Kelsell; E A O'Toole; K Batta

doi:10.1111/ced.12777

Acral peeling skin syndrome associated with a novel CSTA gene mutation

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

Authors

K Muttardi¹, D Nitoiu², D P Kelsell², E A O'Toole², K Batta¹

Affiliations

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.

PMID: 26684698
DOI: 10.1111/ced.12777

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.

Publication types

Case Reports

MeSH terms

Child
Child, Preschool
Cystatin A / genetics*
Cystatin A / metabolism*
Cystatin A / physiology
DNA Mutational Analysis
Erythema / pathology
Female
Foot / pathology
Hand / pathology
Homozygote
Humans
Hyperopia / congenital
Ichthyosis / etiology
Ichthyosis / genetics
Mutation / genetics*
Pedigree
Skin / pathology*
Skin / physiopathology*
Skin Diseases / congenital*
Skin Diseases / genetics
Skin Diseases / pathology
Skin Diseases / physiopathology
White People

Substances

Cystatin A

Supplementary concepts

Peeling skin syndrome, acral type