Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
J Invest Dermatol. 2010 Jul;130(7):1778-84. doi: 10.1038/jid.2010.90. Epub 2010 Apr 15.
Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of blistering disorders with considerable morbidity and mortality. Two decades ago, EB entered the molecular era with the identification of mutations in specific genes expressed within the cutaneous basement membrane zone; mutations in 14 genes have now been identified. This progress has now formed the basis for development of novel molecular therapies for this disease.
大疱性表皮松解症(EB)是一组具有显著发病率和死亡率的临床和遗传异质性的水疱性疾病。二十年前,随着皮肤基底膜带中特定基因的突变的鉴定,EB 进入了分子时代;现在已经确定了 14 个基因的突变。这一进展为该疾病的新型分子治疗奠定了基础。