Introduction: Neurofibromatosis type 1 (NF1), known as von Recklinghausen's disease, is characterized by presence of café au lait spots, and neurofibromas in the skin or along the course of peripheral nerves. Diagnosis, despite extreme clinical variability, is defined by established diagnostic criteria. Clinical status is frequently complicated by systemic disorders and neoplasias.
Case report: A case of a patient affected by NF1, with hypertension due to adrenal pheochromocytoma and with jejunal neurofibroma, is reported.
Discussion and conclusions: Variability in clinical presentation of NF1 with possible manifestation of severe systemic benign and malignant diseases requires strict follow-up and specific screening of extra-cutaneous lesions.