Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian patients

Dharshini Sathishkumar, Dincy Peter, Susanne Pulimood, Henning Wiegmann, Frederic Valentin, Meera Thomas, H. C. Hennies, Vinzenz Oji

Research output: Contribution to journalArticle

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 forc.1147G>A; patient 2: compound heterozygous for c.832G>A, c.919C>G).
Original languageEnglish
Article number3140473
Pages (from-to)1-4
Number of pages4
JournalCase Reports in Dermatological Medicine
Volume2018
DOIs
Publication statusPublished - 30 Dec 2018

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    Sathishkumar, D., Peter, D., Pulimood, S., Wiegmann, H., Valentin, F., Thomas, M., ... Oji, V. (2018). Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian patients. Case Reports in Dermatological Medicine, 2018, 1-4. [3140473]. https://doi.org/10.1155/2018/3140473