先天性鱼鳞病的少见临床类型

目的总结先天性鱼鳞病少见临床类型的特征和治疗方法。方法分析2005年5月~2006年8月我院收治的少见类型的先天性鱼鳞病患儿4例。结果4例均否认有家族性遗传性疾病史。2例非大疱性先天性鱼鳞病样红皮病,表现为红皮病和弥漫性白色至淡棕色鳞屑,均发生睑外翻和听力异常,其中1例掌跖角化过度。2例表皮松解性角化过度鱼鳞病于出生后不久起水疱,以后增厚灰棕色的、疣状鳞屑泛发于躯干和四肢,包括皱襞部。2例均发生红皮病,掌跖未累及,指趾甲和毛发正常。本组4例患儿经治疗后改善,其中3例应用阿维A联合外用药物治疗。结论2例表皮松解性角化过度鱼鳞病可能由自发突变引起。小剂量阿维A联合外用药物治疗先天性鱼鳞病安全但短期有效。

Rare types of congenital ichthyoses

Objective To summarize the distinctive clinical manifestations and treatment of rare types of congenital ichthyoses. MethodsThe data of 4 children,from May 2005 to August 2006,with rare types of congenital ichthyoses were analyzed. Results There were no family histories of inherited diseases in all the 4 patients.Two cases of nonbullous congenital ichthyosiform erythroderma showed erythroderma and white to light brown scales covered the entire body.Both of them had ectropion and auditory dysesthesia.The palms and soles were hyperkeratotic in 1 case.Two cases of epidermolytic hyperkeratosis ichthyosis appeared blistering after birth,and then was replaced by thickening and verruciform scales on the trunk,extremities,especially over the flexor surfaces.The color of the scales might vary from dark brown to gray.Both of them presented erythroderma.The palms and soles,the nail and hair appeared normal.Four cases improved,and 3 of them received Acitretin in combination with topical therapies.Conclusion Two cases of epidermolytic hyperkeratosis ichthyosis may result from spontaneous mutation.It is safe and effective for short-term at low dose of Acitretin in combination with topical therapies.