Nelson D L, King R A
J Am Acad Dermatol. 1981 Sep;5(3):297-303. doi: 10.1016/s0190-9622(81)70095-1.
The Ehlers-Danlos syndrome (EDS) is a group of inherited disorders of connective tissue characterized by joint hypermobility, cutaneous hyperextensibility, and tissue fragility. At least nine subgroups of the disease have been described, each with a characteristic clinical pattern or unique biochemical defect. We describe three members of a family with the constellation of findings diagnostic of EDS type VIII. The trait first manifests in childhood, when minor trauma produces ecchymoses, which resolve normally except on th shins. The pretibial skin heals with distinct hyperpigmented atrophic scars. There is no hyperextensibility of the skin, nor evidence of visceral involvement. Minimal joint hypermobility was noted in one patient. Early onset of periodontal disease, with loss of the permanent teeth, is characteristic. EDS type VIII is inherited as an autosomal dominant trait.
埃勒斯-当洛综合征(EDS)是一组遗传性结缔组织疾病,其特征为关节活动过度、皮肤过度伸展和组织脆弱。该疾病至少已被描述出九个亚组,每个亚组都有独特的临床模式或独特的生化缺陷。我们描述了一个家族中的三名成员,他们具有诊断为VIII型EDS的一系列症状。该特征在儿童期首次出现,轻微创伤会导致瘀斑,除了小腿外,这些瘀斑通常会正常消退。胫前皮肤愈合后会留下明显的色素沉着性萎缩瘢痕。皮肤没有过度伸展,也没有内脏受累的迹象。在一名患者中发现了轻微的关节活动过度。早期出现牙周病并伴有恒牙脱落是其特征。VIII型EDS作为常染色体显性性状遗传。