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 Printable version |
Bathing suit ichthyosis |
European Journal of Dermatology. Volume 20, Number 4, 447-50, July-August 2010, Genes and skin
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 Free Article
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Author(s) : Felicidade Trindade, Teresa Fiadeiro, Antonio Torrelo, Hans Christian Hennies, Ingrid Hausser, Heiko Traupe |
Summary : 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. |
Keywords : bathing suit ichthyosis, TGase-1 deficiency |
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