Gastrointestinal neurofibromatosis

Progressive anemia, melena, and sudden massive upper gastrointestinal bleeding in a man with cutaneous neurofibromatosis (von Recklinghausen's disease) since childhood prompted endoscopic demonstration of multiple gastric neurofibromas. One source of gastric bleeding removed by endoscopic electrosurgery proved to be a malignant schwannoma (spindle cell sarcoma). A pulmonary schwannoma, multifocal intracerebral spindle cell sarcomas, an extra-adrenal pheochromocytoma, and ocular neurofibromas were other features of this neuroectodermal dysplasia. Neurogenic tumors of the gastrointestinal tract are rare, commonly present with dyspepsia, abdominal pain, anemia, or hemorrhage, and should be suspect in the clinical setting of cutaneous neurofibromatosis. In the patient with systemic neurofibromatosis, endoscopic removal represents a safe method of diagnosis and treatment of bleeding neoplasms in the stomach or duodenum.