Also known as: NF, neurofibromatosis type 1 (NF1), von Recklinghausen disease, neurofibromatosis type 2 (NF2), schwannomatosis
What is neurofibromatosis?
Neurofibromatosis is a medical term that refers to a group of three unique but related disorders of the nervous system: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. It’s characterized by tumors (neurofibromas) that form on any nerve in the body. These tumors are usually non-cancerous, but can develop cancer in some cases.
What causes neurofibromatosis?
In half the patients, the disease appears to be a genetic disorder that’s passed down through families. However, some people develop the gene mutation that leads to the disease without inheriting it from their parents. Neurofibromatosis is frequently diagnosed in childhood or a little later.
What are the symptoms and signs of neurofibromatosis?
Depending on the type of neurofibromatosis, symptoms may often be mild, however depending on the nerves involved neurofibromas can cause:
Neurofibromatosis can appear on the skin in the form of small freckles in the groin or armpit, or as larger flat, brown spots (cafe au lait spots). Bumpy growths on the eyes and on and under the skin are often found.
What are neurofibromatosis care options?
Neurofibromatosis cannot be cured, but there are many medical and/or surgical treatments available to address most of the problems that occur.
Reviewed by: Aaron Berger, MD
This page was last updated on: December 18, 2020 05:00 PM
Learn more about
Schwannoma is most frequently a benign (non-spreading) tumor of both children and young adults that begins in the Schwann cells (the cells of the membrane that protects the nerves) of any peripheral nerve in the body; often in the nerves of the head, neck, arms or legs.
Plexiform neurofibromas are a rare, benign (non-cancerous) form of tumor that can occur almost anywhere in the body, such as the face, arm, back, chest, legs and elsewhere.
Juvenile Myelomonocytic Leukemia
JMML is a rare, serious chronic form of cancer of the blood in children (frequently boys), aged less than 4 years.