International Conference on Ectodermal Dysplasias Classification

描述(申请人提供)：外胚层发育不良是以胚胎外胚层异常为特征的一组不同类型的遗传性疾病。对于哪些综合征应该被归类为外胚层发育不良，哪些应该被排除在分类之外，存在争议。Freire-Maia(1971)提出了第一个外胚层发育不良的临床分类。他根据观察到的主要影响头发、牙齿、汗孔和指甲的临床表型进行分类。根据这个分类，有170多种情况可以被认为是外胚层发育不良。随着人类基因组研究的快速发展，外胚层发育不良的分类提出了新的方法。事实上，Priolo M.(2000)提出了一个整合了分子遗传学和临床方面的分类。然而，Priolo的分类以及Freire-Maia的分类都有一个困难，当严格应用时，几种额外的疾病组应该被整合到术语外胚层发育不良中。Lamartine J.(2003)提出了一种基于致病基因功能的分类。这个分类考虑了四个亚类：细胞间的通信和信号；黏附；转录调节；和发育。对人类基因组的研究加速了对细胞功能的了解，使这一次非常适合主办一次国际专家会议，以更新、转移和传播外胚层发育不良的新分类。会议提案旨在分析和讨论目前外胚层发育不良的分类，并达成共识，考虑到分子遗传学的最新进展，开发一种现代分类。会议结果的意义有两个方面，一个新的分类将促进对外胚层发育不良的更好理解，并将开辟新的研究领域。

DESCRIPTION (provided by applicant): The ectodermal dysplasias are a heterogeneous group of heritable disorders characterized by abnormalities of the embryonic ectoderm. Controversy exists over which syndromes should be classified as ectodermal dysplasias and which should be excluded from the classification. Freire-Maia (1971) offered the first clinical classification of ectodermal dysplasias. He based his classification on the observed clinical phenotype affecting mainly the hair, teeth, sweat pores and nails. According to this classification there are over 170 conditions that could be considered ectodermal dysplasias. With the rapid advance of the study of the human genome, new approaches for classifications for ectodermal dysplasias have been proposed. Indeed Priolo M. (2000) proposed a classification integrating molecular genetics and clinical aspects. However, Priolo's classification as well as that of Freire-Maia has the difficulty that when applied strictly several additional groups of diseases should be integrated to the term ectodermal dysplasias. Lamartine J. (2003) has proposed a classification based on causative genes function. This classification considered four subgroups: cell-cell communication and signaling; adhesion; transcription regulations; and development. The study of the human genome has accelerated the knowledge in cell function making this time very appropriate to host an international conference of experts to update transfer and disseminate a new classification for ectodermal dysplasias. The conference proposal aims to analyze, discuss present classifications of ectodermal dysplasia and to generate consensus to develop a modern classification considering the recent advances in molecular genetics. The significance of the conference results are two folds, a new classification will foster a better understanding of ectodermal dysplasias and will open new field of research.