毛囊性鱼鳞病、秃发、畏光综合征一例及基因检测  

Ichthyosis follicularis,alopecia,and photophobia syndrome:a case report and mutation analysis

作　　者：刘元香 徐子刚[1] 汪洋[1] 马琳[1] 孙玉娟[1] Liu Yuanxiang;Xu Zigang;Wang Yang;Ma Lin;Sun Yujuan(Department of Dermatology,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,首都医科大学附属北京儿童医院皮肤科,100045

出　　处：《中华皮肤科杂志》2020年第7期551-553,共3页Chinese Journal of Dermatology

基　　金：北京市医院管理局儿科学协同发展中心"儿科专项"基金项目(XTZD20180502)。

摘　　要：患儿男,2岁2月龄,因生后毛发异常就诊。患儿生后头皮未见毛发,周身皮肤粗糙,可见米粒大小毛囊性丘疹,肛周可见红斑。生后15 d左右家长发现其畏光。皮肤科检查:全身弥漫分布米粒大小毛囊性丘疹,头发、睫毛、眉毛均未见生长;肛周可见境界清楚红斑,边缘可见脱屑。基因检测发现,患儿X染色体MBTPS2基因存在c.661T>A变异,该变异导致第221号氨基酸由苯丙氨酸变为异亮氨酸,即p.Phe221Ile。患儿母亲为相同位点的杂合突变。诊断:毛囊性鱼鳞病、秃发、畏光综合征。A 26-month-old male child was admitted for hair abnormality after birth.There was no hair growth on the scalp of the child after birth,rough skin and scattered rice-grain-sized follicular papules were observed all over the body,and erythema was seen in the perianal region.Fifteen days after birth,the patient was found to be photophobic.Skin examination showed diffusely distributed rice-grain-sized follicular papules all over the body,no growth of hair,eyelashes or eyebrows,and well-circumscribed perianal erythema with scaling at the edges.Genetic testing revealed a c.661T>A mutation in the MBTPS2 gene on the X chromosome of the child,which caused a substitution of phenylalanine by isoleucine at amino acid position 221(p.Phe221Ile).A heterozygous mutation at the same locus was identified in the patient′s mother.The patient was diagnosed with ichthyosis follicularis,alopecia,and photophobia syndrome.

关 键 词：鳞癣 秃发 畏光 DNA突变分析 MBTPS2基因 

分 类 号：R758.52[医药卫生—皮肤病学与性病学]