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Bathing suit ichthyosis

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

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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.

Item Type: Article
Additional Information: Unmapped bibliographic data: ST - Bathing suit ichthyosis [Field not mapped to EPrints] LB - 92 [Field not mapped to EPrints] RP - Not in File [Field not mapped to EPrints]
Uncontrolled Keywords: African Continental Ancestry Group, Infant
Subjects: Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
Schools: School of Applied Sciences
Related URLs:
Depositing User: Hans Hennies
Date Deposited: 13 Jul 2016 14:25
Last Modified: 28 Aug 2021 12:05


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