Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis
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چکیده
منابع مشابه
Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis.
BACKGROUND Bathing suit ichthyosis (BSI) and self-improving collodion ichthyosis (SICI) are 2 minor variants of generalized autosomal recessive congenital ichthyosis. Bathing suit ichthyosis is characterized by scaling of the skin in a bathing suit pattern, mainly limited to the trunk, whereas SICI is characterized by complete disappearance of the skin lesions. OBSERVATIONS We report genotypi...
متن کاملCollodion Baby with TGM1 gene mutation
Collodion baby (CB) is normally diagnosed at the time of birth and refers to a newborn infant that is delivered with a lambskin-like membrane encompassing the total body surface. CB is not a specific disease entity, but is a common phenotype in conditions like harlequin ichthyosis, lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma, and trichothiodystrophy. We report a CB tha...
متن کاملBathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.
Bathing suit ichthyosis (BSI) is a striking and unique clinical form of autosomal recessive congenital ichthyosis characterized by pronounced scaling on the bathing suit areas but sparing of the extremities and the central face. Here we report on a series of 10 BSI patients. Our genetic, ultrastructural and biochemical investigations show that BSI is caused by transglutaminase-1 (TGase-1) defic...
متن کاملA Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as gui...
متن کاملHypohidrosis plays a crucial role in the vicious circle of bathing suit ichthyosis: a case with summer exacerbation.
© 2014 The Authors. doi: 10.2340/00015555-1739 Journal Compilation © 2014 Acta Dermato-Venereologica. ISSN 0001-5555 Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive lamellar ichthyosis (LI). In 2005, Jacyk first reported 13 cases of LI that presented with the characteristic distribution of lesions on the trunk but usually sparing the extremities and the central face (1). ...
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ژورنال
عنوان ژورنال: Acta Dermato Venereologica
سال: 2020
ISSN: 1651-2057
DOI: 10.2340/00015555-3643