Research progress in genetics and treatment of epidermolysis bullosa
Epidermolysis bullosa(EB)is a rare hereditary dermatological condition distinguished by the skin's delicate susceptibility to the formation of blisters and the emergence of ulcers.Recently,notable advancements have been achieved in genetic exploration and the clinical investigations of EB.Genetic investigations have uncovered that the basic reason for EB primarily is gene mutations,which disrupt the proteins related to the structure and function of the skin.These mutations can profoundly impact keratinization and the overall stability of the skin's framework.The clinical presentation of EB showcases a remarkable spectrum of variability,from mild blistering and ulceration to severe skin desquamation.EB is classified into four primary types,each characterized by distinct clinical attributes and disease progression.Presently,the treatment for EB predominantly revolves around supportive care,while the exploration of gene therapy,stem cell therapy,and protein replacement therapy remains imperative for further breakthroughs.This article reviews the genetics,clinical phenotype,and treatment of EB.We aspire to delve into the intricate pathogenesis of EB,unearth more efficacious treatment strategies,and ultimately enhance the prognosis.
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