神经皮肤综合征研究进展  

Research progress on neurocutaneous syndrome

作　　者：刘璐 谢乐[1] 伍大华(综述) 姚婷(审校) LIU Lu;XIE Le;WU Dahua(Neurology Department of Hu-nan Provincial Hospital of Integrated Traditional Chinese and Western Medicine,Changsha 410006,China)

机构地区：[1]湖南省中西医结合医院脑病科,湖南长沙410006 [2]湖南中医药大学,湖南长沙410208

出　　处：《中风与神经疾病杂志》2024年第11期1051-1056,共6页Journal of Apoplexy and Nervous Diseases

基　　金：国家自然科学基金面上项目(82374441);国家自然科学基金青年科学基金项目(82104831);湖南省自然科学基金青年基金项目(2022JJ40242);湖南省中医药科研计划项目(C2024010);湖南省研究生科研创新项目(2024CX066)。

摘　　要：神经皮肤综合征是一类累及神经系统和皮肤的多系统疾病,发病形式多样,多在婴儿时期开始发病,预后欠佳,难以治愈。本病病因复杂,多为基因突变所致,部分为可遗传性疾病,少数为合子后体细胞突变,不具有遗传性。目前国内外已报道多例不同类型的神经皮肤综合征,包括脑面血管瘤病(SWS)、结节性硬化症(TSC)、神经纤维瘤病(NF)等,主要采用对症治疗、药物治疗、放化疗、手术、物理治疗,特异性药物相对较少,随着发病机制的完善和药物研发进展,有望再添新药。基因治疗在遗传性疾病领域疗效显著,未来可能通过基因治疗手段改变致病性基因缺陷。由于此类疾病的罕见性和多样性,缺乏系统论述,本文对相关研究进行总结,以期为临床工作者在诊疗疾病过程中提供参考。Neurocutaneous syndrome is a multi-system disease involving the nervous system and skin,with onset in various forms and typically in infancy,which are difficult to cure with a poor prognosis.The etiology of neurocutaneous syn⁃drome is complex,mostly caused by gene mutations,including heritable mutations and occasionally non-hereditary postzy⁃gotic somatic mutations.Cases of different types of neurocutaneous syndrome have been reported,such as Sturge-Weber syndrome,tuberous sclerosis,and neurofibromatosis.Specific medications are lacking among current therapeutic ap⁃proaches including symptomatic treatment,drug therapy,chemoradiotherapy,surgery,and physical therapy.With the in⁃creasing understanding of the pathogenesis and progress in drug research and development,new drugs could be on the hori⁃zon.Remarkable evidence in the field of genetic diseases suggests that gene therapy may hold promise as a treatment for neurocutaneous syndrome through fixing the pathogenic gene defects.Considering the lack of systematic review on the rare and diverse conditions,we summarize relevant studies to provide a reference for clinical workers in the diagnosis and treat⁃ment of neurocutaneous syndrome.

关 键 词：神经皮肤综合征 脑面血管瘤病 结节性硬化症 神经纤维瘤病 

分 类 号：R742[医药卫生—神经病学与精神病学]