Yeowell H N, Pinnell S R
Department of Medicine, Duke University Medical Center, Durham, NC 27710.
Semin Dermatol. 1993 Sep;12(3):229-40.
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited connective tissue disorders characterized clinically by skin fragility, skin hyperextensibility, joint hypermobility, and excessive bruising. At least 10 different subtypes of EDS have been classified based on genetic, biochemical, and clinical characteristics. Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity). Very little is known about the genetic or biochemical defects responsible for the other EDS subtypes, but with the application of the tools of molecular biology, analysis of these defects is now within reach.
埃勒斯-当洛综合征（EDS）是一组遗传性结缔组织疾病的异质性疾病，临床特征为皮肤脆弱、皮肤过度伸展、关节活动过度和易出现瘀伤。根据遗传、生化和临床特征，至少已将10种不同亚型的EDS分类。EDS分子分析的最新进展已确定了导致EDS IV（III型胶原蛋白基因突变）、EDS VI（赖氨酰羟化酶基因的纯合和复合杂合突变）、EDS VIIA和VIIB（I型胶原蛋白基因突变）、EDS VIIC（前胶原N蛋白酶缺乏）以及EDS IX（赖氨酰氧化酶活性降低）的缺陷。对于其他EDS亚型所涉及的遗传或生化缺陷知之甚少，但随着分子生物学工具的应用，对这些缺陷的分析现在已触手可及。
