Frank Jorge, Happle Rudolf
Department of Dermatology and Maastricht University Centre for Molecular Dermatology, University Hospital, P. Debyelaan 25, 6202 AZ Maastricht, The Netherlands.
J Clin Invest. 2007 May;117(5):1216-9. doi: 10.1172/JCI32111.
Autosomal recessive cutaneous disorders, including various types of epidermolysis bullosa (EB), usually manifest shortly after birth. The clinical course of these diseases is often characterized by severe complications, limited therapeutic options, and a poor prognosis. A study by Pasmooij et al. reported in this issue of the JCI unravels the molecular mechanisms by which germline mutations in non-Herlitz junctional EB can be corrected in vivo by multiple spontaneously occurring somatic mutational events, a phenomenon known as revertant mosaicism (see the related article beginning on page 1240). These insights open new avenues of thinking for the design of future gene therapy strategies for skin diseases.
常染色体隐性遗传性皮肤病，包括各种类型的大疱性表皮松解症（EB），通常在出生后不久就会显现。这些疾病的临床过程往往以严重并发症、有限的治疗选择和不良预后为特征。Pasmooij等人在本期《临床研究杂志》上发表的一项研究揭示了非赫利茨交界型EB的种系突变可通过多个自发发生的体细胞突变事件在体内得到纠正的分子机制，这一现象被称为回复性镶嵌现象（见第1240页开始的相关文章）。这些见解为未来皮肤病基因治疗策略的设计开辟了新的思路。
