Neurofibromatosis Type 1 With a Pheochromocytoma: A Rare Presentation of Von Recklinghausen Disease

Abstract

The combination of Von Recklinghausen disease with a pheochromocytoma has a genetic linkage but is an exceedingly rare occurrence. Von Recklinghausen disease or neurofibromatosis type 1 (NF1) is a neurocutaneous disorder characterized by cafe-au-lait macules and multiple, soft tissue neurofibromas. While a pheochromocytoma is a neuroendocrine tumor characterized by intermittent hypertension. NF1 predisposes patients to pheochromocytomas; however, this occurrence is extremely rare. We describe the case of a young male with neurofibromatosis and a pheochromocytoma.

Cutaneous Findings in Neurofibromatosis Type 1

“…It is usually solitary and benign but long-term follow-up is recommended. Surgical removal is the standard approach for the treatment [ 78 ].…”

Manejo perioperatorio del paciente con feocromocitoma y enfermedad de Von Recklinghausen

“…Muchos feocromocitomas se identifican como malignos solo por el hecho de que recurren luego de una resección completa (8). La invasión local a los tejidos y órganos adyacentes también implica malignidad, la presencia de necrosis del tumor, Ki-67 mayor de 4 %, pS 100 ausente indica alto riesgo de malignidad o recurrencia (13).…”

Clonidine suppression testing for pheochromocytoma in neurofibromatosis type 1

“…Biochemical false positives frequently occur secondary to certain medications, metabolic abnormalities and systemic illness. Most pheochromocytomas are sporadic but 10%–15% are hereditary in diseases such as NF1, multiple endocrine neoplasia type 2, von Hippel-Lindau disease and familial carotid body tumours 1–6…”