International Conference on Ectodermal Dysplasias Classification

描述（由申请人提供）：外胚层发育不良是一组以胚胎外胚层异常为特征的遗传性疾病。对于哪些证候应归类为外胚层发育不良，哪些应排除在外胚层发育不良存在争议。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推进，外胚层发育不良的分类方法被提出。事实上，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的分类存在一个困难，即当严格应用时，需要将另外几组疾病整合到外胚层发育不良这一术语中。Lamartine J.（2003）提出了一种基于致病基因功能的分类方法。这种分类考虑了四个亚组：细胞-细胞通信和信号；附着力;转录法规;和发展。人类基因组的研究加速了对细胞功能的了解，因此现在非常适合举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、讨论目前外胚层发育不良的分类，并在考虑分子遗传学最新进展的情况下，就制定现代分类达成共识。会议成果的意义在于两方面，一是新的分类将促进对外胚层发育不良的更好理解，二是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.