Abstract
INTRODUCTION: 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. CASE PRESENTATION: 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. DISCUSSION: 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. CONCLUSION: 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.