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- Title
Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients.
- Authors
Sathishkumar, Dharshini; Peter, Dincy; Pulimood, Susanne; Wiegmann, Henning; Valentin, Frederic; Thomas, Meera; Hennies, Hans Christian; Oji, Vinzenz
- 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).
- Subjects
ICHTHYOSIS; BATHING suits
- Publication
Case Reports in Dermatological Medicine, 2018, p1
- ISSN
2090-6463
- Publication type
Article
- DOI
10.1155/2018/3140473