منابع مشابه
Bathing 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 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). ...
متن کاملAcute Foreskin Strangulation Injury due to Bathing Suit Mesh Entrapment
Genital injury can occur at any age of life but is most common in the pediatric population. Hair-tourniquets and circumcision procedures are the most common causes of penile injury in children. Foreskin trauma, aside from zipper related injuries, is sparsely reported. We describe the case of an 8-year-old male who presented with foreskin entrapment caused by bathing suit mesh. Management and li...
متن کاملSpecific 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 کاملBathing epilepsy
A patient who had complex partial seizures provoked by bathing is reported. All the attacks occurred during or immediately after bathing, irrespective of water temperature. The semiology was suggestive of a seizure focus in the mesial temporal lobe. Though there are some similarities with hot-water epilepsy, this case appears to be a distinct type of reflex epilepsy.
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ژورنال
عنوان ژورنال: Indian Journal of Paediatric Dermatology
سال: 2018
ISSN: 2319-7250
DOI: 10.4103/ijpd.ijpd_135_17