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Eur J Dermatol. 2010 Jul-Aug;20(4):447-50. doi: 10.1684/ejd.2010.1008. Epub 2010 Jun 3.

Bathing suit ichthyosis.

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  • 1Department of Dermatology, Hospital de Cascais, Av. Brigadeiro Victor Novais Gonçalves, 2755-009 Cascais, Portugal. felicidade.trindade@gmail.com

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.

PMID:
20522418
DOI:
10.1684/ejd.2010.1008
[PubMed - indexed for MEDLINE]
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