Operative Unit of Medical Genetics Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.
Am J Med Genet A. 2009 Sep;149A(9):2003-13. doi: 10.1002/ajmg.a.32804.
The ectodermal dysplasias (EDs) are a large and complex group of disorders. In various combinations, they all share anomalies in hair, teeth, nails, and sweat gland function. The anomalies affecting the epidermis and epidermal appendages are extremely variable. Many are associated with malformations in other organs and systems. Clinical overlap is present among EDs. Few causative genes have been identified, to date. Most of the EDs present multisystem involvement with abnormal development of structures also derived from mesoderm. In the last few years, it has become evident that gene expression in the EDs is not limited to the ectoderm and that there is a concomitant effect on developing mesenchymal structures, with modification or abolition of ectodermal-mesenchymal signaling. It is possible to approach this group of diseases basing on functional and molecular findings and to begin to explain the complex clinical consequences of mutations affecting specific developmental pathways. We have reviewed the molecular basis of ectodermal dysplasias applying this new clinical-functional classification. For each subset of the identified ED, we will now describe the genes and related proteins involved in terms of: (1) structure of the genes and their role in differentiation of the epidermis and the ectodermal derivatives; (2) genotype-phenotype correlation.
外胚层发育不全（EDs）是一组庞大而复杂的疾病。它们以各种组合形式出现，均具有毛发、牙齿、指甲和汗腺功能异常。影响表皮和表皮附属物的异常极其多样化。许多疾病还伴有其他器官和系统的畸形。ED 之间存在临床重叠。迄今为止，仅鉴定出少数几个致病基因。大多数 ED 具有多系统受累，来源于中胚层的结构也存在异常发育。在过去几年中，已经明显看出 ED 中的基因表达不仅限于外胚层，而且对正在发育的中胚层结构也有伴随影响，导致外胚层-中胚层信号的改变或缺失。我们可以根据功能和分子发现来研究这组疾病，并开始解释影响特定发育途径的突变的复杂临床后果。我们已经根据这种新的临床-功能分类方法，研究了外胚层发育不全的分子基础。现在，对于已确定的 ED 的每一个亚类，我们将根据以下内容描述涉及的基因和相关蛋白：（1）基因结构及其在表皮和外胚层衍生物分化中的作用；（2）基因型-表型相关性。
