Department of Dermatology-Venereology, Geneva University Hospital, Michel-Servet 1, Geneva, Switzerland.
Am J Med Genet A. 2009 Sep;149A(9):2042-4. doi: 10.1002/ajmg.a.32839.
Ectodermal dysplasias (EDs) form a complex and heterogeneous group of diseases currently defined and classified according to their clinical symptoms. The characterization, for several EDs, of the molecular events underlying their development, not only challenges this classification but also opens the door to new therapeutic options such as gene or protein therapy. This article provides a concise overview of the most recent successes and failures of this new type of treatment and sets in perspective how the specificities of given EDs will influence their feasibility in the near future. It makes the case for the need of new classification of EDs that is based on our most recent knowledge of the molecular basis of these diseases.
外胚层发育不全症（EDs）是一组复杂且异质性的疾病，目前根据其临床症状进行定义和分类。对几种 ED 进行的分子事件的特征描述，不仅对这种分类提出了挑战，而且为基因或蛋白质治疗等新的治疗选择打开了大门。本文简要概述了这种新型治疗方法的最新成功和失败案例，并展望了给定 ED 的特异性将如何影响其在不久的将来的可行性。本文还提出了一种新的 ED 分类方法的必要性，该方法基于我们对这些疾病分子基础的最新认识。
