中华皮肤科杂志 ›› 2020, Vol. 53 ›› Issue (7): 551-553.doi: 10.35541/cjd.20180718

• 研究报道 • 上一篇    下一篇

毛囊性鱼鳞病、秃发、畏光综合征一例及基因检测

刘元香1,徐子刚1,汪洋2,马琳3,孙玉娟4   

  1. 1. 首都医科大学附属北京儿童医院
    2.
    3. 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
    4. 北京首都医科大学附属北京儿童医院皮肤科
  • 收稿日期:2018-08-27 修回日期:2020-02-23 发布日期:2020-07-06
  • 通讯作者: 孙玉娟 E-mail:sunyujuan200903@sohu.com
  • 基金资助:
    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

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

Yuan-xiang LIU 2,Ma Lin 3,   

  • Received:2018-08-27 Revised:2020-02-23 Published:2020-07-06
  • Supported by:
    Special Fund of the Pediatric Medical Coordinated Development Center of Beijing Municipal Administration of Hospitals

摘要: 【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。

关键词: 鳞癣, 秃发, 畏光, DNA突变分析, MBTPS2基因

Abstract: 【Abstract】 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.

Key words: Ichthyosis, Alopecia, Photophobia, DNA mutational analysis, MBTPS2 gene

引用本文

刘元香 徐子刚 汪洋 马琳 孙玉娟. 毛囊性鱼鳞病、秃发、畏光综合征一例及基因检测[J]. 中华皮肤科杂志, 2020,53(7):551-553. doi:10.35541/cjd.20180718

Yuan-xiang LIU Ma Lin. Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and mutation analysis[J]. Chinese Journal of Dermatology, 2020, 53(7): 551-553.doi:10.35541/cjd.20180718