Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
Genes (Basel). 2020 May 13;11(5):547. doi: 10.3390/genes11050547.
Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with a variable clinical overlap including Marfan syndrome and related disorders, some types of skeletal dysplasia and cutis laxa. Clinical recognition of EDS is not always straightforward and for a definite diagnosis, molecular testing can be of great assistance, especially in patients with an uncertain phenotype. Currently, the major challenging task in EDS is to unravel the molecular basis of the hypermobile EDS that is the most frequent form, and for which the diagnosis is only clinical in the absence of any definite laboratory test. This EDS subtype, as well as other EDS-reminiscent phenotypes, are currently investigated worldwide to unravel the primary genetic defect and related pathomechanisms. The research articles, case report, and reviews published in this Special Issue focus on different clinical, genetic and molecular aspects of several EDS subtypes and some related disorders, offering novel findings and future research and nosological perspectives.
埃勒斯-当洛斯综合征（EDS）是一组遗传性结缔组织疾病（HCTD），其特征为不同程度的皮肤过度伸展、关节过度活动和组织脆弱。目前的 EDS 分类区分了 13 种亚型和 19 种不同的致病基因，这些基因主要涉及胶原和细胞外基质的合成和维持。EDS 需要与其他具有不同临床重叠的 HCTD 区分开来，包括马凡综合征和相关疾病、某些类型的骨骼发育不良和皮肤松弛症。EDS 的临床识别并不总是那么简单，为了明确诊断，分子检测可以提供很大的帮助，尤其是在表型不确定的患者中。目前，EDS 面临的主要挑战是揭示高度活跃型 EDS 的分子基础，这是最常见的形式，在缺乏任何明确的实验室检测的情况下，其诊断仅为临床诊断。这种 EDS 亚型以及其他与 EDS 相似的表型，目前正在全球范围内进行研究，以揭示主要的遗传缺陷和相关的病理机制。本期特刊中发表的研究文章、病例报告和综述聚焦于几种 EDS 亚型和一些相关疾病的不同临床、遗传和分子方面，提供了新的发现和未来的研究和分类学观点。
