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

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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