title: Acral peeling skin syndrome associated with a novel CSTA gene mutation.
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.
authors.affiliation: Department of Dermatology, Watford General Hospital, Watford, Hertfordshire, UK.
authors.forename: K
authors.initials: K
authors.lastname: Muttardi
authors.affiliation: 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.
authors.forename: D
authors.initials: D
authors.lastname: Nitoiu
authors.affiliation: 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.
authors.forename: D P
authors.initials: DP
authors.lastname: Kelsell
authors.affiliation: 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.
authors.forename: E A
authors.initials: EA
authors.lastname: O'Toole
authors.affiliation: Department of Dermatology, Watford General Hospital, Watford, Hertfordshire, UK.
authors.forename: K
authors.initials: K
authors.lastname: Batta
mesh_terms: D002648:Child; D002675:Child, Preschool; D055312:Cystatin A / Q000235:genetics* / Q000378:metabolism* / Q000502:physiology; D004252:DNA Mutational Analysis; D004890:Erythema / Q000473:pathology; D005260:Female; D005528:Foot / Q000473:pathology; D006225:Hand / Q000473:pathology; D006720:Homozygote; D006801:Humans; D006956:Hyperopia / Q000151:congenital; D007057:Ichthyosis / Q000209:etiology / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012867:Skin / Q000473:pathology* / Q000503:physiopathology*; D012871:Skin Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D044465:White People
chemical_list: D055312:Cystatin A