School of Dentistry, University of Southern California, 2250 Alcazar Street, Los Angeles, CA 90033, USA.
Am J Med Genet A. 2009 Sep;149A(9):2071-4. doi: 10.1002/ajmg.a.32862.
A contrarian view suggests that the ectodermal dysplasias, including more than 200 different disorders, represent clinical variability and molecular heterogeneity as well as complex multigene heritable conditions often characterized by dysmorphogenesis of derivatives of embryonic ectoderm and beyond. Controversy exists over which syndromes do or do not belong in the classification of the clinical features that characterize ectodermal dysplasias. For example, Ellis-van Creveld syndrome is characterized by abnormalities of the teeth and hair, as well as of the skeleton and the cardiovascular system. Precision in diagnosis often is a preamble for improved patient diagnosis, treatment and desired outcomes. In tandem, molecular studies of complex epithelial-mesenchymal interactions required for ectodermal derivatives (e.g., hair, nail, skin, teeth, and exocrine glands) continue to identify and explain many signal transduction pathways and networks related to ectodermal dysplasias. Meanwhile, major international investments in fundamental biomedical research continue to yield significant benefits to the larger society. The convergence of informatics, nanotechnology, genomics, and epigenetic studies with clinical medicine and dentistry promise major progress for special needs patients such as ectodermal dysplasias. For example, investments in the molecular biology of genes and their regulation and function now provide more than 30 candidates for specific biomarkers to improve diagnosis, prognosis, treatments, therapeutics, and biomaterials for ectodermal dysplasias. Innovations in high throughput genotyping, gene mapping, single nucleotide polymorphisms (SNPs), interference RNA treatments, bioimaging, tissue engineering and related biomimetic approaches to design and fabricate biomaterials, offer enormous promise for the future of ectodermal dysplasias.
另一种观点认为，外胚层发育不全包括 200 多种不同的疾病，代表了临床变异性和分子异质性，以及复杂的多基因遗传性疾病，这些疾病通常表现为胚胎外胚层及其衍生物的发育不良。关于哪些综合征属于或不属于外胚层发育不全的临床特征分类存在争议。例如，Ellis-van Creveld 综合征的特征是牙齿和头发、骨骼和心血管系统的异常。准确的诊断通常是改善患者诊断、治疗和预期结果的前提。与此同时，对外胚层衍生物（如毛发、指甲、皮肤、牙齿和外分泌腺）所需的复杂上皮-间充质相互作用的分子研究继续确定和解释许多与外胚层发育不全相关的信号转导途径和网络。与此同时，对基础生物医学研究的重大国际投资继续为更大的社会带来重大利益。信息学、纳米技术、基因组学和表观遗传学研究与临床医学和牙科的融合，有望为外胚层发育不全等特殊需求患者带来重大进展。例如，对基因及其调控和功能的分子生物学的投资现在为改善外胚层发育不全的诊断、预后、治疗、疗法和生物材料提供了 30 多个特定生物标志物的候选物。高通量基因分型、基因图谱、单核苷酸多态性 (SNP)、干扰 RNA 治疗、生物成像、组织工程和相关仿生方法的设计和制造生物材料的创新为外胚层发育不全的未来提供了巨大的希望。
