发育医学电子杂志 Vol. 11 395-400 DOI: 10.3969/j.issn.2095-5340.2023.05.012
结构畸形
综述
色素失禁症遗传学及临床诊治研究进展
徐菲 石晶
四川大学华西第二医院 儿科 出生缺陷与相关妇儿疾病教育部重点 实验室，四川 成都 610041
Research progress in genetics, clinical diagnosis and treatment of incontinentia pigment
Xu Fei, Shi Jing
摘要 色素失禁症（incontinentia pigmenti，IP）是一种 罕见病，是X 染色体连锁显性遗传病。多在婴儿期 甚至新生儿期发病，发病率为（0.07~0.12）/10 000， 新生儿发病率为（0.2~0.25）/10 000，主要发生于女性 患儿（92%~97%），男性患儿往往病情严重，多在胎 儿期流产或死亡［1］ 。皮肤损害是IP 的典型表现， 可伴有眼、神经系统、口腔、毛发及指（趾）甲等多 系统损害。IP 主要与核因子κB 激酶调节亚单位 γ 抑制剂（inhibitor of nuclear factor kappa B kinase regulatory subunit gamma，IKBKG）基因突变有关。 近年来，随着医学的发展和研究的深入，对IP 的诊 断和治疗有了一些新认识，本文将对IP 的遗传学、 临床表现及诊治等方面进行综述。
关键词:
色素失禁症
基因
收稿日期: 2023-01-20
出版日期: 2023-09-30
发布日期: 2023-09-27
期的出版日期: 2023-09-30
基金资助: 四川大学华西第二医院临床科研基金（KL075）
通讯作者:
石晶
E-mail: shijing@scu.edu.cn
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