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).
Highlights
Bathing suit ichthyosis (BSI) is a rare variant of lamellar ichthyosis due to transglutaminase-1 gene (TGM ) mutations leading to a temperature sensitive phenotype [1]
We report two cases of unrelated Indian girls with bathing suit ichthyosis and confirmatory mutations in TGM
DNA of each patient has been extracted from full blood and analyzed for mutations in TGM by direct Sanger sequencing of all coding exons and flanking intronic sequences
Summary
Bathing suit ichthyosis (BSI) is a rare variant of lamellar ichthyosis due to transglutaminase-1 gene (TGM ) mutations leading to a temperature sensitive phenotype [1]. First case was described in 1972 by Scott [2], followed by a case series by Jacyk, both from South Africa [3]. A current study by Marukian et al expanded the group of reported BSI cases by additional 9 new mutations in patients from different ethnic origins [4]. The majority of BSI reports are from Africa, Europe, Turkey, Middle East, and China but no reports from India so far.
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