Netherton综合征一例  

A case of Netherton syndrome

作　　者：李珂瑶 文容 罗鸯鸯[1] 谈鑫[1] 蒋艳玲[1] 周斌[1] 韦祝[1] LI Ke-yao;WEN Rong;LUO Yang-yang(Department of Dermatology,Hunan Childrens Hospital,Changsha 410007,China)

机构地区：[1]湖南省儿童医院皮肤科,长沙410007 [2]湖南省儿童医院病理科

出　　处：《实用皮肤病学杂志》2021年第6期379-381,共3页Journal of Practical Dermatology

摘　　要：9岁9个月龄女性患儿,全身红斑、脱屑9年余.头发、眉毛稀少,全身可见大量红斑、鳞屑,关节部位有苔藓样变,掌跖角化过度;指(趾)甲部分堆积、增厚,光镜下可见头发呈竹节样改变.血常规嗜酸性粒细胞0.6×10^(9)/L,血清总IgE 211.00 IU/ml.基因检测提示SPINK5纯合变异.诊断:Netherton综合征.A girl aged 9 years and 9 months,presented with generalized erythema and scales after birth.Physical examination showed that the child's hair and eyebrows were sparse,generalized erythema and scales,thickened plaques with verrucous appearance on the extensor surface of the knee joints,as well as palmoplantar hyperkeratosis.The finger(toe)nail plates were thickened,and the hairs presented bamboo like structure under light microscope.Laboratory examination showed that peripheral blood eosinophil count was 0.6×10^(9)/L,and total serum IgE level was 211.00 IU/ml.Gene detection showed SPINK5 homozygous mutation.Diagnosis:Netherton syndrome.

关 键 词：鱼鳞病 Netherton综合征 儿童 竹节样发 

分 类 号：R758.52[医药卫生—皮肤病学与性病学]