George Washington University Hospital, Washington, DC.
George Washington University Hospital, Washington, DC.
Chest. 2020 Apr;157(4):e103-e105. doi: 10.1016/j.chest.2019.11.001.
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.
神经纤维瘤病 1 型是一种罕见疾病,继发于 17 号染色体 NF1 肿瘤抑制基因的致病性变异。其特征性临床表现包括多发性色素斑、腋窝和腹股沟雀斑、视神经胶质瘤和许多皮肤神经纤维瘤。血管病变是这种疾病的罕见并发症,可影响从近端主动脉到小动脉的各种血管,其病理学包括动脉狭窄、动脉瘤和动静脉畸形。这些患者的动脉瘤通常无症状,大多数有此并发症的患者在血管破裂后才进行治疗。我们描述了一位 33 岁的男性,患有神经纤维瘤病 1 型,他因胸痛就诊,最终被发现左侧锁骨下动脉分支假性动脉瘤破裂导致大量血胸。