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

Abstract EN

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).