Tinkle Brad, Castori Marco, Berglund Britta, Cohen Helen, Grahame Rodney, Kazkaz Hanadi, Levy Howard
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):48-69. doi: 10.1002/ajmg.c.31538. Epub 2017 Feb 1.
The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc.
埃勒斯-当洛综合征的关节过度活动型(hEDS)可能是最常见的遗传性结缔组织疾病。它主要在那些有肌肉骨骼症状的人群中被描述,包括关节过度活动、关节半脱位/脱位,以及皮肤和软组织表现。许多患者报告与活动相关的疼痛,有些患者还会出现日常疼痛。有两种未分化综合征被用来描述这些表现——关节过度活动综合征和hEDS。两者都是在没有其他病因的情况下的临床诊断。当前的医学文献使鉴别更加复杂,并描述了多种相关症状和疾病。当前的埃勒斯-当洛综合征分类法将这两个实体合并为埃勒斯-当洛综合征的关节过度活动型。在此,我们回顾并总结文献,以便更好地对这类结缔组织疾病进行临床描述。© 2017威利期刊公司