Neurofibromatosis type 1 is a rare disorder that occurs secondary to pathogenic variants in the NF1 tumor suppressor gene on chromosome 17. Characteristic clinical manifestations include multiple hyperpigmented macules, axillary and inguinal freckling, optic gliomas, and numerous skin neurofibromas. Vasculopathies are a rare complication of this disease and can affect vessels ranging from the proximal aorta to small arterioles, with pathology including arterial stenosis, aneurysms, and arteriovenous malformations. Aneurysms in these patients are often asymptomatic, and most patients with this complication appear for treatment after vessel rupture. We describe a 33-year-old man with neurofibromatosis type 1 who presented with chest pain and was ultimately found to have a ruptured left subclavian artery branch pseudoaneurysm leading to a large hemothorax.

中文翻译：

---

1 型神经纤维瘤病患者锁骨下动脉分支假性动脉瘤破裂伴大量血胸

1 型神经纤维瘤病是一种罕见的疾病，继发于 17 号染色体上 NF1 肿瘤抑制基因的致病变异。特征性临床表现包括多发性色素沉着斑、腋窝和腹股沟雀斑、视神经胶质瘤和许多皮肤神经纤维瘤。血管病是这种疾病的一种罕见并发症，可影响从近端主动脉到小动脉的血管，其病理包括动脉狭窄、动脉瘤和动静脉畸形。这些患者的动脉瘤通常无症状，大多数出现这种并发症的患者在血管破裂后就诊。