Research progress on neurocutaneous syndrome
10.19845/j.cnki.zfysjjbzz.2024.0201
- VernacularTitle:神经皮肤综合征研究进展
- Author:
Lu LIU
1
,
2
;
Le XIE
;
Dahua WU
Author Information
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
- Keywords:
Neurocutaneous syndrome;
Sturge-Weber syndrome;
Tuberous sclerosis;
Neurofibromatosis
- From:
Journal of Apoplexy and Nervous Diseases
2024;41(11):1051-1056
- CountryChina
- Language:Chinese
-
Abstract:
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.
