Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Department of Basic Medical Sciences, Neyshabur University of Medical Sciences, Neyshabur, Iran.
Stem Cell Rev Rep. 2024 Jul;20(5):1200-1212. doi: 10.1007/s12015-024-10697-4. Epub 2024 Mar 2.
Epidermolysis bullosa (EB) is a rare genetic dermatosis characterized by skin fragility and blister formation. With a wide phenotypic spectrum and potential extracutaneous manifestations, EB poses significant morbidity and mortality risks. Currently classified into four main subtypes based on the level of skin cleavage, EB is caused by genetic mutations affecting proteins crucial for maintaining skin integrity. The management of EB primarily focuses on preventing complications and treating symptoms through wound care, pain management, and other supportive measures. However, recent advancements in the fields of stem cell therapy, tissue engineering, and gene therapy have shown promise as potential treatments for EB. Stem cells capable of differentiating into skin cells, have demonstrated positive outcomes in preclinical and early clinical trials by promoting wound healing and reducing inflammation. Gene therapy, on the other hand, aims to correct the underlying genetic defects responsible for EB by introducing functional copies of mutated genes or modifying existing genes to restore protein function. Particularly for severe subtypes like Recessive Dystrophic Epidermolysis Bullosa (RDEB), gene therapy holds significant potential. This review aims to evaluate the role of new therapeutic approaches in the treatment of EB. The review includes findings from studies conducted on humans. While early studies and clinical trials have shown promising results, further research and trials are necessary to establish the safety and efficacy of these innovative approaches for EB treatment.
大疱性表皮松解症（EB）是一种罕见的遗传性皮肤病，其特征为皮肤脆弱和水疱形成。由于具有广泛的表型谱和潜在的皮肤外表现，EB 存在显著的发病率和死亡率风险。目前根据皮肤分裂水平将其分为四个主要亚型，EB 是由影响维持皮肤完整性的关键蛋白的基因突变引起的。EB 的管理主要集中在通过伤口护理、疼痛管理和其他支持措施来预防并发症和治疗症状。然而，干细胞治疗、组织工程和基因治疗领域的最新进展为 EB 的潜在治疗方法带来了希望。能够分化为皮肤细胞的干细胞已通过促进伤口愈合和减轻炎症在临床前和早期临床试验中显示出积极的结果。另一方面，基因治疗旨在通过引入突变基因的功能性拷贝或修饰现有基因来纠正导致 EB 的潜在遗传缺陷，以恢复蛋白质功能。对于严重亚型（如隐性营养不良性大疱性表皮松解症[RDEB]），基因治疗具有显著的潜力。本综述旨在评估新治疗方法在 EB 治疗中的作用。综述包括在人类中进行的研究结果。虽然早期研究和临床试验显示出有希望的结果，但仍需要进一步的研究和试验来确定这些创新方法治疗 EB 的安全性和有效性。
