Getachew Feron, Nibret Yonas, Mengistu Simeon Mulugeta, Admasu Habtamu, Ketema Tsion
Vascular Surgery Division, Department of Surgery, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia.
Department of Surgery, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia.
Int J Surg Case Rep. 2025 Mar;128:111035. doi: 10.1016/j.ijscr.2025.111035. Epub 2025 Feb 12.
Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder inherited in an autosomal dominant fashion. Typical clinical manifestations include multiple café-au-lait spots, axillary and inguinal freckling, Lisch nodules (iris hamartomas), and neurofibromas.
We present the case of a 27-year-old male patient from Ethiopia who presented to the emergency room with progressively increasing swelling in the right gluteal area following a road traffic accident (RTA) that occurred one day earlier. Upon evaluation, the patient was in hypovolemic shock with right gluteal swelling accompanied by skin ecchymosis and findings suggestive of NF1. Imaging revealed soft tissue tumors with internal bleeding and hematoma. A clinical diagnosis of NF1 with bleeding into a tumor was established. The patient was resuscitated and taken to the operating room, where an en bloc tumor excision and hematoma evacuation were performed. The patient was discharged on the fourth postoperative day with follow-up appointments scheduled and referred to neurology and ophthalmology clinics for further evaluation.
Discrete cutaneous neurofibromas are the most common presentation in NF1 and consist of soft, sessile, or pedunculated tumors. Although rare, they can present with life-threatening intratumoral bleeding.
Patients with neurofibromatosis can present with large hematomas that lead to hemodynamic instability due to bleeding into tumors secondary to trauma. Surgical management in such cases serves both diagnostic and therapeutic purposes.
1型神经纤维瘤病（NF1）是一种以常染色体显性方式遗传的神经皮肤遗传性疾病。典型的临床表现包括多个咖啡牛奶斑、腋窝和腹股沟雀斑、Lisch结节（虹膜错构瘤）和神经纤维瘤。
我们报告一例来自埃塞俄比亚的27岁男性患者，该患者在一天前发生道路交通事故（RTA）后，因右臀区域肿胀逐渐加重而就诊于急诊室。经评估，患者处于低血容量性休克状态，右臀肿胀伴有皮肤瘀斑，并有提示NF1的表现。影像学检查显示软组织肿瘤伴内部出血和血肿。确诊为NF1伴肿瘤内出血。患者经复苏后被送往手术室，进行了肿瘤整块切除和血肿清除术。患者术后第四天出院，安排了随访预约，并转诊至神经科和眼科诊所进行进一步评估。
离散性皮肤神经纤维瘤是NF1最常见的表现形式，由柔软的、无柄的或有蒂的肿瘤组成。虽然罕见，但它们可出现危及生命的肿瘤内出血。
神经纤维瘤病患者可能出现大血肿，由于创伤继发肿瘤内出血而导致血流动力学不稳定。在此类病例中，手术治疗兼具诊断和治疗目的。
