Neurofibromatosis type 1 in combination with Pheochromocytoma (clinical case)

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Introduction: Neurofibromatosis type 1 (NF-1) is a rare disease with characteristic pathological changes of the skin and nervous system, often in combination with abnormalities of other organs and systems. Endocrine neoplasms such as pheochromocytoma/paraganglioma, gastroenteropancreatic neuroendocrine tumors, thyroid tumors, and adrenal tumors, can also be rarely associated with NF-1.

Aim(s): Presentation of a clinical case of neurofibromatosis type 1 in combination with pheochromocytoma.

Materials and methods: Male patient B., 36 years old, referred to endocrinologist with periodic blood pressure increase up to 200/120 mm Hg, accompanied by headaches and increased heart rate. It has been observed for 10 years without proper attention. Physical examination revealed multiple light-brown "café-au-lait" skin spots, scoliosis and neurofibromas ranging in size 1.5-10 cm of various localization. The presence of skin spots and scoliosis were noted from early childhood. Subcutaneous nodules began to appear at age of 13.

Conference:

Presenting Author: Motrenko A

Authors: Motrenko A, Britvin T, Ilovayskaya I, Gurevich L,

Keywords: Neurofibromatos, pheochromocytoma, metanerins,