Acral peeling skin syndrome associated with a novel CSTA gene mutation.
Clin Exp Dermatol
; 41(4): 394-8, 2016 Jun.
Article
in En
| MEDLINE
| ID: mdl-26684698
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Skin
/
Skin Diseases
/
Cystatin A
/
Mutation
Type of study:
Etiology_studies
/
Risk_factors_studies
Limits:
Child
/
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
Clin Exp Dermatol
Year:
2016
Document type:
Article
Affiliation country:
United kingdom