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胸内进行性骨化性纤维发育不良。

Intrathoracic fibrodysplasia ossificans progressiva.

作者信息

Özkan Serdar, Alp Ebru, Demirağ Funda, Yazıcı Ülkü, Karaoğlanoğlu Nurettin

机构信息

Department of Thoracic Surgery, Ataturk Training and Research Hospital for Chest Disease and Chest Surgery, Kecioren, Ankara, Turkey.

Department of Medical Biology and Genetics, Gazi University Faculty of Medicine, Besevler, Ankara, Turkey.

出版信息

Thorac Cardiovasc Surg. 2014 Mar;62(2):192-5. doi: 10.1055/s-0032-1322622. Epub 2012 Nov 29.

Abstract

Fibrodysplasia ossificans progressiva is an extremely rare disease that is usually seen in the form of sporadic cases and seems to be localized outside of the thoracic cavity. Inflammation and trauma are accused in the etiology, and too many diagnostic mistakes are done. The disease, which may present genetic transmission and has not a definitive treatment, was seen as an intrathoracic mass for the first time. Intrathoracic mass was excised, and the cure was achieved in our patient, who was defined to be sporadic as a result of familial screening.

摘要

进行性骨化性纤维发育不良是一种极其罕见的疾病,通常以散发病例的形式出现,似乎局限于胸腔外。病因归咎于炎症和创伤,并且存在太多诊断错误。该疾病可能存在遗传传递且尚无确切治疗方法,首次被视为胸腔内肿块。切除了胸腔内肿块,我们的患者获得治愈,经家族筛查确定为散发病例。

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