Yost B A, Vogelsang J P, Lie J T
Department of Pathology, University of California, Davis, Medical Center, Sacramento, USA.
Chest. 1995 May;107(5):1465-7. doi: 10.1378/chest.107.5.1465.
We describe the case of a 27-year-old man with Ehlers-Danlos syndrome, type IV. The patient had recurrent and eventually fatal pulmonary hemorrhage. Type IV Ehlers-Danlos syndrome is a rare disorder of type III collagen synthesis. It is characterized by an unusual facies, thin, translucent skin with venous vascular pattern, and hypermobility of the small joints. The cause of death is usually due to rupture of a viscus or a major arterial hemorrhage and, in women, rupture of the gravid uterus. Fatal lung hemorrhage in Ehlers-Danlos syndrome, to our knowledge, has not been previously described.
我们描述了一名患有IV型埃勒斯-当洛综合征(Ehlers-Danlos syndrome)的27岁男性病例。该患者反复发生并最终死于肺出血。IV型埃勒斯-当洛综合征是一种罕见的III型胶原蛋白合成障碍疾病。其特征为面容异常、皮肤薄且半透明并有静脉血管纹路,以及小关节活动过度。死亡原因通常是内脏破裂或大动脉出血,在女性中则是妊娠子宫破裂。据我们所知,此前尚未有埃勒斯-当洛综合征致死性肺出血的相关描述。