Bathing suit ichthyosis

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

Research output: Contribution to journalArticle

3 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.

LanguageEnglish
Pages447-450
Number of pages4
JournalEuropean Journal of Dermatology
Volume20
Issue number4
DOIs
Publication statusPublished - 5 Jun 2010
Externally publishedYes

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Ichthyosis
Lamellar Ichthyosis
Mutation
Temperature
Genes
Extremities
Phenotype
Skin
Enzymes
transglutaminase 1

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
Trindade, Felicidade ; Fiadeiro, Teresa ; Torrelo, Antonio ; Hennies, Hans Christian ; Hausser, Ingrid ; Traupe, Heiko. / Bathing suit ichthyosis. In: European Journal of Dermatology. 2010 ; Vol. 20, No. 4. pp. 447-450.
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Trindade, F, Fiadeiro, T, Torrelo, A, Hennies, HC, Hausser, I & Traupe, H 2010, 'Bathing suit ichthyosis', European Journal of Dermatology, vol. 20, no. 4, pp. 447-450. https://doi.org/10.1684/ejd.2010.1008

Bathing suit ichthyosis. / Trindade, Felicidade; Fiadeiro, Teresa; Torrelo, Antonio; Hennies, Hans Christian; Hausser, Ingrid; Traupe, Heiko.

In: European Journal of Dermatology, Vol. 20, No. 4, 05.06.2010, p. 447-450.

Research output: Contribution to journalArticle

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AU - Fiadeiro, Teresa

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Trindade F, Fiadeiro T, Torrelo A, Hennies HC, Hausser I, Traupe H. Bathing suit ichthyosis. European Journal of Dermatology. 2010 Jun 5;20(4):447-450. https://doi.org/10.1684/ejd.2010.1008