Life-threatening intratumoral hemorrhage in plexiform neurofibroma: A case report

Neurofibromatosis type 1 (von Recklinghausen's disease) is an inherited nervous system disease affecting around 1 in 3000 and is characterized by café-au-lait spots, pigmented hamartomas of the iris (Lisch nodules), and multiple neurofibromas. Plexiform neurofibromas can show intratumoral bleeding, and the fragile surrounding blood vessels and soft tissues carry a risk of escalation to lethal bleeding. We encountered a 59-year-old man with neurofibromatosis type 1 who presented with a rapidly growing massive hematoma in the left buttock after hitting it against a chair 12 hours earlier. He was tachycardic and hypotensive (hemoglobin, 5.7 g/dl), with severe swelling and tenderness in the left gluteal region. Plain computed tomography revealed a large, hyperdense, subcutaneous soft-tissue mass on the left buttock measuring 23 × 12 × 24 cm. Selective angiography demonstrated significant arterial supply to the lesion from a highly hypertrophied left L4 lumbar artery as well as the left superior gluteal artery. Embolization of these vessels was performed to reduce tumor blood supply. After returning to the intensive care unit, a central area of skin necrosis was noted. The wound was debrided; healing with scarring after 6 weeks with the tumor returning to its original size within 6 months. Hemorrhage in neurofibromatosis type 1 is attributed to a friable vasculature secondary to arterial dysplasia or vascular invasion by the neurofibroma. As neurofibroma is highly vascular, vessel rupture can occur spontaneously or with trivial trauma. Arterial embolization represents the method of choice for treating intratumoral bleeding in neurofibromatosis type 1, as a minimally invasive means of controlling arterial bleeding.