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Journal articles
Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child
Abstract : BackgroundBathing suit ichthyosis (BSI) is an uncommon phenotype classified as a minor variant of autosomal recessive congenital ichthyosis (ARCI). ObjectivesWe report a case of BSI in a 3-year-old Tunisian girl with a novel mutation of the transglutaminase 1 gene (TGM1). Case ReportThis infant had been born with a collodion membrane encasing her entire body. From the age of threemonths, brownish scaling was noted on the bathing suit area. Histology showed orthohyperkeratosis with acanthosis of the epidermis. The granular layer was normal, and the superficial dermis was mildly inflammatory, confirming a diagnosis of proliferating ichthyosis. Molecular analysis in the patient and her parents revealed the mutation I304F of TGM1. Treatment with emollients and keratolytics partially improved the patient's skin condition. ConclusionsBathing suit ichthyosis is an uncommon phenotype unique in its topography, which involves the trunk but spares the face and extremities. Previous studies using molecular analysis have shown that BSI is caused mainly by mutations in TGM1. Twenty missense mutations have been reported in BSI. Of these 20 missense mutations, nine occurred only in patients with the BSI phenotype and 11 were common to BSI and other types of ARCI. Until recently, there has been no genotype-phenotype correlation. Therefore, the same mutation of the transglutaminase 1 could result in either generalized ARCI or BSI. The present case demonstrates this phenotype in a White Tunisian patient with a novel mutation of TGM1 (I304F) not previously reported in BSI.
https://hal-riip.archives-ouvertes.fr/pasteur-01375053
Contributor : Institut Pasteur Tunis Connect in order to contact the contributor
Submitted on : Sunday, October 2, 2016 - 8:02:48 PM
Last modification on : Friday, November 26, 2021 - 3:38:03 AM
Contributor : Institut Pasteur Tunis Connect in order to contact the contributor
Submitted on : Sunday, October 2, 2016 - 8:02:48 PM
Last modification on : Friday, November 26, 2021 - 3:38:03 AM
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