中国麻风皮肤病杂志 ›› 2023, Vol. 39 ›› Issue (6): 423-425.doi: 10.12144/zgmfskin202306423

• 临床研究 • 上一篇    下一篇

GJB2基因突变致儿童角膜炎-鱼鳞病-耳聋综合征一例

冯小燕,刘欣欣,毕田田,李钦峰   

  1. 天津市儿童医院皮肤科，天津，300134
  • 出版日期:2023-06-15 发布日期:2023-05-18

Keratitis ichthyosis deafness syndrome caused by GJB2 gene mutation

FENG Xiaoyan, LU Xinxin, BI Tiantian, LI Qinfeng   

  1. Department of Dermatology, Tianjin Children's Hospital, Tianjin 300134, China
  • Online:2023-06-15 Published:2023-05-18

PDF (PC)

84

摘要： 患儿，女，6岁。全身皮肤干燥、粗糙，双手、足、肘膝、臀部呈棕褐色颗粒状皮革样改变，掌跖皮肤增厚，指（趾）甲增厚变形；头发、眉毛稀少、睫毛缺失，听力下降。本例患儿外周血GJB2基因第2外显子检测到杂合突变c.148G＞A(p.D50N)，皮损组织病理检查示鱼鳞病样改变，听力检查：双耳耳聋。符合儿童角膜炎-鱼鳞病-耳聋综合征诊断。

关键词: 角膜炎-鱼鳞病-耳聋综合征, GJB2基因, 基因突变

Abstract: A six-year-old girl presented with dry and rough of the skin all over the whole body, the skin of the hands, feet, elbows, knees and hips showed brown granular and leather change, the skin of palmar and plantar was hyperkeratosis, and the nails of fingers (toes) were thickened and deformed, hair and eyebrows were sparse, eyelashes were loss, hearing loss. A heterozygous mutation C.148G>A(p.D50N) was detected in exon 2 of GJB2 gene in peripheral blood of this child. Histopathological examination showed ichthyosis, and hearing examination showed deafness in both ears. The diagnosis of keratitis ichthyosis deafness syndrome (KID syndrome) was made.

Key words: keratitis-ichthyosis-deafness syndrome, GJB2 gene, gene mutation