Bathing suit ichthyosis

Eur J Dermatol. 2010 Jul-Aug;20(4):447-50. doi: 10.1684/ejd.2010.1008. Epub 2010 Jun 3.

Abstract

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive lamellar ichthyosis due to transglutaminase-1 (TGase-1) gene mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the 'bathing suit' areas, whereas the extremities and central face are almost completely spared. We report a 2-year-old African girl with BSI with ultrastructural and biochemical demonstration of TGase-1 deficiency over the affected skin. TGase-1 gene analysis disclosed the homozygous p.R315L mutation, which may lead to a temperature sensitive dysfunction of the enzyme.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Black People
  • Female
  • Homozygote
  • Humans
  • Ichthyosis, Lamellar / genetics*
  • Ichthyosis, Lamellar / pathology
  • Infant
  • Mutation
  • Phenotype
  • Temperature
  • Transglutaminases / deficiency
  • Transglutaminases / genetics

Substances

  • Transglutaminases