Trindade, F., Fiadeiro, T., Torrelo, A., Hennies, Hans C., Hausser, I. and Traupe, H. (2010) Bathing suit ichthyosis. European Journal Dermatology, 20 (4). pp. 447-450. ISSN 1167-1122

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.

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