International Conference on Ectodermal Dysplasias Classification

描述（由申请方提供）：外胚层发育不良是一组异质性遗传性疾病，其特征为胚胎外胚层异常。关于哪些综合征应归类为外胚层发育不良，哪些应排除在分类之外，存在争议。Freire-Maia（1971）首次提出了外胚层发育不良的临床分类。他的分类基于观察到的主要影响头发、牙齿、毛孔和指甲的临床表型。根据这种分类，有超过170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进展，外胚叶发育不良分类的新方法被提出。Priolo M.（2000）提出了一种整合分子遗传学和临床方面的分类。然而，Priolo的分类以及Freire-Maia的分类存在困难，即当严格应用时，应将几组额外的疾病整合到术语外胚层发育不良中。Lamartine J.（2003）提出了基于致病基因功能的分类。该分类考虑了四个亚组：细胞间通讯和信号传导;粘附;转录调节;和发育。人类基因组的研究加速了对细胞功能的认识，使这个时间非常适合主办一次国际专家会议，以更新、转让和传播外胚层发育不良的新分类。会议提案的目的是分析，讨论目前的分类外胚层发育不良，并产生共识，以制定一个现代分类考虑到分子遗传学的最新进展。会议结果的意义是双重的，一个新的分类将促进更好地了解外胚层发育不良，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.