The Skin Was Only the Beginning: An Incidental Neurofibroma Uncovers a Silent Pheochromocytoma

Authors

Mehdi Salmane, Alia Yassine Kassab, Lina Lasri, Omar El Aoufir, Leila Jroundi

Journal Information

Journal: Medpeer Publisher

ISSN: 3066-2737

Volume: 3

Issue: 6

Date of Publication: 2026/06/03

DOI: 10.70780/medpeer.000QGT6

Abstract

Neurofibromatosis Type 1 (NF1) is a multisystem genetic disorder characterized by cutaneous neurofibromas and an increased risk of internal tumors, including pheochromocytoma. We report the case of a 19-year-old male patient presenting with multiple cutaneous neurofibromas and episodic adrenergic symptoms, including headaches, palpitations, and intermittent hypertension. Abdominal ultrasound revealed an unsuspected heterogeneous right adrenal mass, highly suggestive of pheochromocytoma, later confirmed by biochemical testing. The coexistence of visible cutaneous neurofibromas and a deep adrenal lesion underscored an underlying syndromic association, transforming a seemingly superficial dermatologic presentation into the diagnosis of a potentially life-threatening endocrine tumor. This case highlights the pivotal role of ultrasound as an initial, accessible imaging modality capable of revealing occult adrenal pathology and triggering timely diagnosis in patients with NF1.

Keywords

Neurofibromatosis type 1, Pheochromocytoma, Neurofibroma, Adrenal mass, Ultrasound.