罕见性遗传性皮肤病的研究现状及展望  

The Research Status and Prospect of Rare Hereditary Dermatoses

作　　者：张学军[1] ZHANG Xuejun(Department of Dermatology and Venerology,First Affiliated Hospital of Anhui Medical University,Hefei 230032,China)

机构地区：[1]安徽医科大学第一附属医院皮肤科,安徽合肥230032

出　　处：《皮肤科学通报》2020年第1期1-4,共4页Dermatology Bulletin

摘　　要：罕见性皮肤病虽然发病率较低,但是由于种类繁多、危害性大而日益被国内外学者所重视。其中严重的罕见性遗传性皮肤病不仅影响美观、危及生命,而且影响下一代,因此国内外学者不断深入地研究此类疾病,发现了多个罕见性遗传性皮肤病的致病基因及突变位点,某些疾病的基因治疗也取得了一定进展,遗传性罕见性皮肤病的遗传咨询正在不断开展和深入。但目前仍然有部分疾病的发病机制未被阐明,遗传咨询和基因治疗面临较多挑战,国内外学者仍需要加强合作和交流,加大加深在此类疾病上的研究力度和深入,为早日阐明罕见性皮肤病发病机制、早期诊断和治疗干预提供重要的借鉴依据。Although the incidence of rare skin diseases is relatively low,it has raised more attention by scholars at home and abroad.Among them,rare genetic skin diseases not only affect the appearance and threaten the life,but also affect the next generation.Therefore,the scholars have performed the genetic study and found a number of pathogenic genes and mutations of rare genetic skin diseases.Gene therapy for some diseases has also made some progress,and genetic counseling for hereditary rare skin diseases is constantly ongoing.However,the pathogenesis of some diseases has not been clarified at present,and genetic counseling and gene therapy are facing many challenges.Scholars still need to strengthen cooperation,intensify research in the diseases,and provide important information for early pathogenesis,early diagnosis and treatment intervention of the rare skin diseases.

关 键 词：罕见性皮肤病 研究现状 展望 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]