Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients. (30th December 2018)

• Record Type: Journal Article
• Authors: Sathishkumar, Dharshini; Peter, Dincy; Pulimood, Susanne; Wiegmann, Henning; Valentin, Frederic; Thomas, Meera; Hennies, Hans Christian; Oji, Vinzenz
• Other Names: Cuevas-Covarrubias Sergio A. Academic Editor.
• Is Part Of: Case reports in dermatological medicine. Volume 2018(2018)
• Publication Date: 2018-12-30
• Subjects: Dermatology -- Periodicals; Skin -- Diseases -- Periodicals; 616.5005
• DOI: 10.1155/2018/3140473
• Languages: English
• ISSNs: 2090-6463

Abstract

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).