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).
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. . https://doi.org/10.1155/2018/3140473