Ishizu Akihiro, Ooka Tomonori, Murakami Tatsuya, Yoshiki Takashi
Department of Pathology/Pathophysiology, Division of Pathophysiological Science, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan.
Cardiovasc Pathol. 2006 May-Jun;15(3):153-6. doi: 10.1016/j.carpath.2006.01.004.
Vascular involvement in neurofibromatosis type 1 (NF1) is well recognized; however, rupture of extracranial arteries rarely occurs. We present a case of NF1 with rupture of the thyrocervical trunk, which branched from the right subclavian artery. A 76-year-old woman who has numerous café-au-lait spots and soft tumors of the skin manifested a sudden swelling of her neck accompanied with increasing pain. Radiological examinations revealed bleeding from the artery.
Histological and immunohistochemical examinations were carried out using tissues that contained the affected vessel.
Proliferation of spindle cells positive for S-100 protein was seen in the adventitia of the ruptured vessel. Intimal thickening by proliferation of fibromuscular cells was also evident with irregularity of the media.
These findings suggest that the artery was disrupted by NF in the vascular wall. It is considered that NF in the arterial wall causes dysplasia of the smooth muscle layer in the intima and media and leads to fragility of the vessel. Twelve cases, including the present case, with rupture of extracranial arteries in NF1 have been reported in the past 10 years; two thirds of these occurred in extravisceral sites in which there is a good deal of physical movement. This suggests that a physiological factor is one of the triggers for arterial rupture, which occurs under a background of vascular fragility in NF1.
1型神经纤维瘤病（NF1）中的血管受累已得到充分认识；然而，颅外动脉破裂很少发生。我们报告一例NF1患者，其发自右锁骨下动脉的甲状颈干发生破裂。一名76岁女性，有大量咖啡斑和皮肤软瘤，出现颈部突然肿胀并伴有疼痛加剧。影像学检查显示动脉出血。
对包含受累血管的组织进行组织学和免疫组化检查。
在破裂血管的外膜可见S-100蛋白阳性的梭形细胞增殖。纤维肌细胞增殖导致内膜增厚，中膜也不规则。
这些发现提示血管壁中的神经纤维瘤病导致动脉破裂。据认为，动脉壁中的神经纤维瘤病导致内膜和中膜平滑肌层发育异常，进而导致血管脆弱。过去10年中已报道了包括本病例在内的12例NF1患者颅外动脉破裂；其中三分之二发生在有大量身体活动的内脏外部位。这表明生理因素是动脉破裂的触发因素之一，动脉破裂发生在NF1血管脆弱的背景下。
