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[III型和IV型埃勒斯-当洛综合征]

[The Ehlers-Danlos syndrome type III and type IV].

作者信息

Roqué M H, Roqué C M

机构信息

Consultorio de Reumatología, Cátedra de Historia de la Medicina, UNC, FCM.

出版信息

Rev Fac Cien Med Univ Nac Cordoba. 2007;64(4):132-5.

Abstract

The Ehlers-Danlos Syndrome (EDS) is a collagen disease characterized by joint hypermobility, skin hyper-extensibility and generalized tissue fragility. It is usually inherited in an autosomal dominant manner and they differ from each other in gene mutation involved in the structure of different types of collagen. We report two female patients with a diagnosis of EDS Type III and Type IV with different clinical manifestations, evolution and prognosis. The first case, EDS Type III, presented marked joint hypermobility and skin hyper-extensibility, and the second case, EDS Type IV, arterial rupture leading to extensive bruising, obstetrics complications and skin hyper-extensibility.

摘要

埃勒斯-当洛综合征(EDS)是一种胶原病,其特征为关节活动过度、皮肤过度伸展和全身组织脆弱。它通常以常染色体显性方式遗传,并且在涉及不同类型胶原结构的基因突变方面彼此不同。我们报告了两名诊断为Ⅲ型和Ⅳ型EDS的女性患者,她们具有不同的临床表现、病情发展和预后。第一例为Ⅲ型EDS,表现为明显的关节活动过度和皮肤过度伸展;第二例为Ⅳ型EDS,出现动脉破裂,导致大面积瘀伤、产科并发症和皮肤过度伸展。

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