色素失禁症研究进展  

Research Progress of Incntinence Pigmenti

作　　者：曹亚琪 韩建文[1] CAO Yaqi;HAN Jianwen(Department of Dermatology,the Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010050,China)

机构地区：[1]内蒙古医科大学附属医院,内蒙古呼和浩特010050

出　　处：《皮肤科学通报》2023年第2期255-263,共9页Dermatology Bulletin

基　　金：内蒙古科技计划项目(2019GG082)。

摘　　要：色素失禁症(incontinentia pigmenti,IP)是一种罕见的X染色体显性遗传性皮肤病,位于Xq28上的IKBKG/NEMO基因是其致病基因。IP可累及除皮肤外多种神经外胚层组织,如牙齿、头发、眼睛和中枢神经系统,可引起不可逆的严重损伤,因此是一种多系统疾病。近年来,随着生物医学的发展,对IP的诊断和治疗有了进一步认识,本文将对IP的致病基因、临床特征、诊断、鉴别诊断,治疗和综合管理做一综述。Incontinence pigmenti(IP)is a rare X chromosome dominant skin disease.IKBKG/NEMO gene located on Xq28 is its pathogenic gene.IP can involve a variety of neuroectodermal tissues other than skin,such as teeth,hair,eyes and central nervous system,and can cause irreversible serious damage.Therefore,it is a multisystem disease.In recent years,with the development of biomedicine,there has been a further understanding of the diagnosis and treatment of IP.This paper will review the pathogenic genes,clinical characteristics,diagnosis,differential diagnosis,treatment and comprehensive management of IP.

关 键 词：色素失禁 Bloch Sulzberger综合征 IKBKG/NEMO BLASCHKO线 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]