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.




J Endocrinol Metab. 2015;5(5):309-311
doi: http://dx.doi.org/10.14740/jem308w