Bathing suit ichthyosis

Felicidade Trindade, Teresa Fiadeiro, Antonio Torrelo, Hans Christian Hennies, Ingrid Hausser, Heiko Traupe

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)447-450
Number of pages4
JournalEuropean Journal of Dermatology
Volume20
Issue number4
DOIs
Publication statusPublished - 5 Jun 2010
Externally publishedYes

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  • Cite this

    Trindade, F., Fiadeiro, T., Torrelo, A., Hennies, H. C., Hausser, I., & Traupe, H. (2010). Bathing suit ichthyosis. European Journal of Dermatology, 20(4), 447-450. https://doi.org/10.1684/ejd.2010.1008