Recent advances in understanding and managing epidermolysis bullosa.
Recent advances in understanding and managing epidermolysis bullosa.
复制标题
DOI：
10.12688/f1000research.14974.1
复制
发表时间：
2018-01-01
期刊：
影响因子：
--
通讯作者：
Nystrom, Alexander
中科院分区：
文献类型：
--
作者：
Kiritsi, Dimitra;Nystrom, Alexander
大疱性表皮病（EB）是一种临床和遗传异质性皮肤脆性疾病，其特征是创伤诱导的皮肤分离和疼痛伤口的发展。到目前为止，20个基因的突变已被描述为与30多种临床EB亚型相关。全外显子组测序的时代已经彻底改变了EB诊断，几个EB中心正在开发基因组，并允许更快的诊断和鉴定。随着基因编辑技术的发展，人们越来越关注基于基因编辑的靶向治疗。然而，在日常护理中实施这些措施仍需要时间。因此，目前的一个重要重点是更好地理解每种亚型的发病机制，并利用这些知识设计缓解疾病的治疗方法，即旨在改善而不是治愈疾病的治疗方案。
Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous skin fragility disorder characterized by trauma-induced skin dissociation and the development of painful wounds. So far, mutations in 20 genes have been described as being associated with more than 30 clinical EB subtypes. The era of whole-exome sequencing has revolutionized EB diagnostics with gene panels being developed in several EB centers and allowing quicker diagnosis and prognostication. With the advances of gene editing, more focus has been placed on gene editing-based therapies for targeted treatment. However, their implementation in daily care will still take time. Thus, a significant focus is currently being placed on achieving a better understanding of the pathogenetic mechanisms of each subtype and using this knowledge for the design of symptom-relief therapies, i.e. treatment options aimed at ameliorating and not curing the disease.