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鱼鳞病在全球范围发生。Ichthyosis occurs worldwide and affects people of all races.
他们是层状,X连锁,鱼鳞病及表皮角化的形式。They are lamellar, x-linked, and epidermolytic hyperkeratosis forms of ichthyosis.
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四个继承下来的鱼鳞病主要类型的主要特点列于下表。Key characteristics of the four main types of inherited ichthyosis are listed in the table below.
前期的临床实验在治疗创伤,大疱性表皮松解症和鱼鳞病上已经取得了进展。Preclinical progress has been achieved in the treatment of wounds, epidermolysis bullosa and ichthyosis.
打破了鱼鳞病不能治愈的神话,堪称医学史上最伟大的成就之一。Ichthyosis broke the myth can not be cured, medical history can be called one of the greatest achievements.
结论该板层状鱼鳞病患者存在转谷氨酰胺酶1基因的R142C错义突变和R348X无义突变。Conclusion The mutations of R142C and R348X in TGM1 gene are present in the patient with lamellar ichthyosis.
小宋胜得的病被称为层状鱼鳞病,然而,医生们告诉小宋胜的家人,他们没有此类基因病的有效治愈方法。But doctors have told the family there is still no known cure for the genetic condition, known as Lamellar ichthyosis.
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副作用只有皮肤的色素沉着、干燥和鱼鳞病样改变,停药后均逐渐消退。Pigmentation and ichthyosis -like lesions of the skim caused by B663 would gradually resolve as time goes on after stop of MDT.
鱼鳞病综合征是一组皮肤症状表现为鱼鳞病样损害的遗传性疾病,大部分由于基因突变引起。Ichthyosis syndrome is a series of genodermatoses clinically manifested by ichthyosiform lesions. Most of them are caused by gene mutations.
单纯糠疹和痤疮患病率男性高于女性,而毛周角化、鱼鳞病和雀斑的患病率则以女性为高。The rate of pityriasis alba and acne in males was higher than that in females, and the rate of lichen pilaris, ichthyosis and freckles was higher in females.
结论鱼鳞病可合并神经系统疾病,其机制尚不明了,可能与发生学和遗传学有关。Conclusion Ichthyosis patients maybe complicated with nervous system diseases, but its mechanism remains unknown. It may be related to phylogenetics and genetics.
她有先天性鱼鳞癣,脆弱毛发,智能障碍,可能降低的生育能力,矮小体格和典型的脸部特徵一下颚过小和突出的耳朵。She had congenital ichthyosis , brittle hair, intellectual impairment, possibly decreased fertility, short stature and the typical facial features of micrognathia and prominent ears.
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本文采用四氧化钌固定法电镜下观察板层状鱼鳞癣病人角质层细胞间脂质的结构。The skin biopsy specimen from patient with lamellar ichthyosis was assessed by electron microscopy, using ruthenium tetroxide post-fixation to visualize the intercellular lipid membrane domains.
结论板层状鱼鳞病患者转谷氨酰胺酶1的活性完全缺失,是其转谷氨酰胺酶1基因的无义突变,引起编码的蛋白缺陷。Conclusions The proband of lamellar ichthyosis in this family shows loss of transglutaminase1activity, which is resulted from a truncated transglutaminase1coded by the homozygous mutant TGM1gene.