Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients.
Case Rep Dermatol Med
; 2018: 3140473, 2018.
Article
em En
| MEDLINE
| ID: mdl-30693114
ABSTRACT
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the "bathing suit" areas. We report two Indian girls with bathing suit ichthyosis and mutations in TGM1 (patient 1 homozygous for c.1147G>A; patient 2 compound heterozygous for c.832G>A, c.919C>G).
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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Case Rep Dermatol Med
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Índia