表皮松解性角化过度鱼鳞病一例

A case of epidermolytic hyperkeratosis ichthyosis

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。

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.