| 表皮松解性角化过度鱼鳞病一例 |
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| 引用本文： | 盖晓磊,左亚刚,曾跃平.表皮松解性角化过度鱼鳞病一例[J].实用皮肤病学杂志,2020(1):53-55. |
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| 作者姓名： | 盖晓磊 左亚刚 曾跃平 |
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| 作者单位： | 中国医学科学院·北京协和医院·北京协和医院皮肤科协和医学转化中心·国家皮肤与免疫疾病临床医学研究中心;河北北方学院研究生院 |
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| 摘 要： | 5岁女性患儿,全身皮肤潮红5年,出现干燥及角化增厚4年。皮损组织病理示:表皮显著角化过度,颗粒层细胞内见不规则的透明角质颗粒呈空泡样变性改变,棘层不规则增厚,真皮浅层血管周围少量炎性细胞浸润。基因突变检测示KRT10位点突变,基因编码区478号碱基由T变为A。诊断:表皮松解性角化过度鱼鳞病。给予局部外用0.1%维A酸乳膏每日2次及皮肤保湿剂治疗,40 d复诊时皮损明显好转,全身皮肤基本正常。
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| 关 键 词： | 鱼鳞病 表皮松解性 角化过度 角蛋白10基因 |
A case of epidermolytic hyperkeratosis ichthyosis |
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| GE Xiao-lei,ZUO Ya-gang,ZENG Yue-ping.A case of epidermolytic hyperkeratosis ichthyosis[J].Journal of Practical Dermatology,2020(1):53-55. |
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| Authors: | GE Xiao-lei ZUO Ya-gang ZENG Yue-ping |
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| Institution: | (National Clinical Reaearch Center of Dermatologic and Immunologic Diseases,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Peking Union Medical Transformation Center,Beijing 100730,China) |
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| Abstract: | A 5-year-old female patient suffered from redness on her skin for 5 years,dry,thick and hyperkeratotic scaliness for 4 years.Histopathological examination showed hyperkeratosis,a thick granular layer,vacuolar degeneration of the upper epidermis,and a small amount of inflammatory cells infiltrated around the superficial blood vessels of the dermis.A heterozygous mutation in the KRT10 c.478 T>A,was identified in the proband of the family,but absent in the unaffected family members and healthy controls.A diagnosis of epidermolytic hyperkeratosis ichthyosis was made.The patient was treated with 0.1% vitamin A cream and moisturizer.The skin lesions improved significantly after 40-day treatment,and the skin almost returned to normal. |
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| Keywords: | Ichthyosis epidermolytic hyperkeratosis KRT10 |
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