We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Acral peeling skin syndrome associated with a novel CSTA gene mutation.
- Authors
Muttardi, K.; Nitoiu, D.; Kelsell, D. P.; O'Toole, E. A.; Batta, K.
- 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.
- Subjects
NUCLEOTIDE sequence; TRANSGLUTAMINASES; PSORIASIS; EXFOLIATIVE dermatitis; ICHTHYOSIS; CYSTATINS
- Publication
Clinical & Experimental Dermatology, 2016, Vol 41, Issue 4, p394
- ISSN
0307-6938
- Publication type
Article
- DOI
10.1111/ced.12777