Hereditary blistering diseaes. Symptoms, diagnosis and treatment of epidermolysis bullosa
Hereditary blistering diseaes. Symptoms, diagnosis and treatment of epidermolysis bullosa
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DOI：
10.1007/s00105-008-1686-9
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发表时间：
2009-05-01
期刊：
影响因子：
--
通讯作者：
Hintner, H.
中科院分区：
文献类型：
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作者：
Laimer, M.;Lanschuetzer, C. M.;Hintner, H.
遗传性大疱性表皮松解症（EB）是一种罕见的遗传性疾病，其特征是轻微创伤后皮肤和粘膜明显脆弱。在了解EB的分子基础方面取得了重大进展，这对改善EB的分类、预后、遗传咨询、基于dna的产前和植入前检测以及包括基因治疗在内的未来治疗的发展具有深远的意义。除了皮肤粘膜改变外，EB还会导致许多系统性表现，其治疗需要多学科介入。皮外并发症包括眼科、牙科、胃肠、肺部、泌尿生殖、血液学和营养问题。本文综述了近年来对EB分子基础的认识、EB主要亚型的临床特点、EB患者的治疗等方面的研究进展，并对EB分子治疗项目如基因、细胞、载体、蛋白治疗等进行了展望。
Hereditary epidermolysis bullosa (EB) is a term for a heterogeneous group of rare genetic disorders characterized by marked fragility of the skin and mucous membranes following minor trauma. Significant progress has been made in understanding the molecular basis of EB, which has far-reaching implications for an improved classification with consequences for prognosis, genetic counseling, DNA-based prenatal and preimplantation testing, and the development of future treatments including gene therapy. Besides mucocutaneous changes, EB leads to a number of systemic manifestations whose management requires multidisciplinary access. Extracutaneous complications include ophthalmologic, dental, gastrointestinal, pulmonary, urogenital, hematologic, and nutritional problems. This article reviews the progress that has been made in the understanding of the molecular basis of EB, clinical aspects of major EB subtypes, and the management of patients suffering from EB, and it gives an outlook on molecular therapy projects such as gene, cell, vector, and protein therapies.