An Unusual Case of Ehlers-Danlos Syndrome Presenting as Proptosis

一例以眼球突出为首发症状的埃勒斯-当洛斯综合征罕见病例

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Abstract

Ehlers-Danlos syndrome (EDS) is a rare, heterogeneous group of genetic connective tissue disorders that affect collagen proteins. Currently, they are classified into 13 subtypes, many of which share general characteristics such as thin, hyperextensible skin and joint hypermobility. Vascular Ehlers-Danlos syndrome (vEDS) is characterized by tissue fragility, which predisposes individuals to premature arterial, uterine, or intestinal rupture. In this case, a young female presented with proptosis, skin hyperelasticity, and multiple joint dislocations. On computed tomography angiography (CTA), a direct caroticocavernous fistula, along with multiple segments of narrowing and ectasia in the internal carotid arteries and vertebral arteries, were detected, leading to a diagnosis of vEDS. This case report highlights the importance of clinical evaluation and the role of imaging in detecting this rare condition.

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