Neurofibromatosis is a genetically inherited disorder that causes tumors to grow in the nervous system.NF is a neurological disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's nerves or on or underneath the skin. Although it is an inherited disorder, one can also develop the disease through mutations of genes in the body. If one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The disorder is classified into two types, type 1 (NF1) and type 2 (NF2). Type 1 is caused by mutations in the gene on chromosome 17 and type two is caused by mutations in a gene on chromosome 22. Schwannomatosis is a rare form of NF in which many non cancerous tumors (schwannomas) form in peripheral nerve fiber cells (called Schwann cells).


In order to be diagnosed with neurofibromatosis, you must first tell the doctor your symptoms. The doctor will also look at your family and medical history and order the following tests:

  • Physical examination
  • Medical history
  • Family history
  • X-rays
  • Computerized tomography (CT) scans
  • Magnetic resonance imaging (MRI)
  • Biopsy of neurofibromas
  • Eye tests
  • Tests for particular symptoms, such as hearing or balance tests
  • Genetic testing (available for families with documented cases of NF1 and NF2)


TYPE 1 (NF1)

- Cafe au lait spots (flat, light brown spots on the skin)

- Freckling in the armpits or groin area

- Soft bumps on or under the skin (called neurofibromas)

- Tiny bumps on the iris of your eye (Lisch nodules)

- Bone deformities

TYPE 2 (NF2)

- Non cancerous tumors develop on the nerve that carries sound and balance information and this causes hearing loss, ringing in the ears, poor balance

- Vision difficulties due to growth on the retina of the eye and cataracts.


- Schwannomatosis does not cause neurological disabilities or cancerous tumors. This condition causes chronic pain, which can occur in any part of the body where growths are present.



- Neurological problems

- visible sign of neurofibromatosis such as cafe au laits spots can cause anxiety and emotional stress

- skeletal problems

- visual difficulties

- increase in neurofibromas

- cancer


- partial or total deafness

- facial nerve damge

- skin lesions

- multiple brain tumors or spinal tumors

Schwanomatosis may cause severe pain


There is no cure for neurofibromatosis, but doctors can help treat the signs and symptoms with medications to help control pain. Tumors which are pressing against tissues or nearby organs can be removed by surgery. Cancerous tumors can be treated with chemotherapy and radiation. There is always risks with surgery such as nerve damage so it is important to discuss the pros and cons with the doctor.


Most cases of NF1 are mild, but some cases may cause severe symptoms that may cause severe difficulties in their daily life activities. In NF2, damage to major organs of the body caused by tumors that press on the these organs such as the brain stem can be life threatening. Patients with neurofibromatosis have an increased chance of developing severe tumors. In rare cases, these can shorten a person's life expectancy. It can often be difficult for family members to take care of their loved who has NF. Therefore, it is helpful to join support groups that can help ease the anxiety and find ways to cope with the pain patients and families may face.


- - Neurofibromatosis Network.

"The Mission of the NF Network is to find treatments and a cure for neurofibromatosis by promoting scientific research, improving clinical care, providing outreach through education and awareness, while offering hope and support to those affected by NF."

Supports Camp New Friends, an annual NF Children’s camp

Sponsors educational programs for families affected by NF Children's Tumor Foundation

"The Children's Tumor Foundation is a non-profit medical foundation, dedicated to improving the health and well being of individuals and families affected by the neurofibromatoses (NF)."

BC Neurofibromatosis Foundation (BCNF): Tara's story
Neurofibromatosis - About The Children's Tumor Foundation