Acral peeling skin syndrome associated with a novel CSTA gene mutation.
Clin Exp Dermatol
; 41(4): 394-8, 2016 Jun.
Article
em 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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pele
/
Dermatopatias
/
Cistatina A
/
Mutação
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Child
/
Child, preschool
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article