Neurofibromatosis type 1 & type 2 (NF1 & NF2)

Neurofibromatosis type 1 and neurofibromatosis type 2 are rare nervous system disorders with no known causes or cures. Both arise from genetic mutations, so they aren’t infectious.

Despite these basic similarities, the conditions have important differences. Your Aurora Health Care doctor can connect you with a specialist who has the experience and expertise to provide an accurate diagnosis and handle your neurofibromatosis treatments.

Understanding neurofibromatosis type 1 and neurofibromatosis type 2

Although their symptoms are very different, both neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) stem from genetic mutations that enable defective proteins to be formed. These proteins disturb messages from the brain that travel to the muscles.

There are two types of genetic mutations in NF1 and NF2. Some are inherited from parents. Others are called sporadic mutations – they happen randomly either before or after birth.

Symptoms of neurofibromatosis type 1 (NF1)

Neurofibromatosis type 1 is usually diagnosed at birth or in the first couple of years of life because its major symptoms are distinctive. NF1 symptoms include:

• Neurofibromas – tumors that grow on nerves at the level of the skin. Some may appear at birth and some may appear later.
• Plexiform neurofibromas – larger tumors that grow on a group of nerves.
• Six or more café-au-lait spots on the skin. These flat spots are light brown to dark brown in color, usually circular or oval in shape and larger than 5 mm in size.
• Freckles in the armpits or in the groin that usually show up by the age of 5.
• Optic pathway glioma – a benign tumor on the optic nerve. Most have no symptoms, but some affect vision.
• Learning challenges including ADHD.
• Bone deformities of the eye socket or tibia (a leg bone).
• Scoliosis (curvature of the spine).

Neurofibroma tumors are usually benign. In rare cases, they may become cancerous. Cancerous neurofibromas usually develop as malignant peripheral nerve sheath tumors (MPNST).

Symptoms of neurofibromatosis type 2 (NF2)

Neurofibromatosis type 2 is rarer than NF1. These neurofibromatosis symptoms usually start later – in the late teens or early adulthood. The most common symptom is vestibular schwannoma tumors in both ears. These tumors grow on the nerve that carries signals between the ears and the brain and that governs both hearing and balance. Other tumors related to NF2 may grow on the skin, brain or spinal cord.

Having NF2 may affect your balance or lead to seizures, and you may experience numbness or weakness in your arms or legs. NF2 is also associated with cataracts that develop at a young age and other vision problems.

Symptoms for NF1 and NF2 are different for every person. Some people never notice any symptoms while others have mild or severe neurofibromatosis symptoms.

Make an appointment to talk with your doctor if you have concerns about your or your child’s potential neurofibromatosis symptoms. They’ll put you on the path to an accurate diagnosis and effective neurofibromatosis treatments.

Conditions related to neurofibromatosis

Having NF1 or NF2 also increases the risk of having several other conditions such as:

• Acute lymphoblastic leukemia
• Benign peripheral nerve sheath tumors
• Brain tumors such as gliomas, astrocytomas and ependymomas
• Breast cancer
• Endocrine cancers
• Malignant peripheral nerve sheath tumors
• Melanoma
• Meningioma
• Ovarian cancer
• Prostate cancer
• Sarcomas (many types)

Other names for neurofibromatosis

Neurofibromatosis type 1 (NF1) is also known as:

• Von Recklinghausen’s disease
• Von Recklinghausen’s phakomatosis
• Von Recklinghausen’s neurofibromatosis
• Neurofibroma, multiple
• Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
• Peripheral neurofibromatosis

Neurofibromatosis type 2 (NF2) is also known as:

• Bilateral acoustic neurofibromatosis
• Vestibular schwannoma neurofibromatosis
• Central neurofibromatosis

Diagnosis of neurofibromatosis types 1 & 2

Diagnosing neurofibromatosis is best done by an experienced specialist because some symptoms change from year to year or take years to develop. To develop a diagnosis, your doctor will perform a physical exam including checking for scoliosis, café au lait spots and any visible tumors. They’ll gather information about your full medical history.

Tests to check your vision, hearing and balance will be ordered along with imaging tests like X-ray, CT or MRI to find bone deformities or tumors in the brain or spinal cord.

Your doctor may recommend genetic testing to see if you have any genes known to be related to NF1 or NF2. However, you can have neurofibromatosis without having a related gene, so testing may be inconclusive.

Treatments for neurofibromatosis

Treatment for neurofibromatosis focuses on managing symptoms because there are no cures for NF1 or NF2. Medications may be prescribed for pain, seizures or other neurofibromatosis symptoms.

Although the presence of café au lait spots may be used to confirm a diagnosis, they don’t cause symptoms. Talk to your doctor about the possibility of removal if they are a cause for concern.

Surgery for neurofibromatosis treatment

Removal of tumors may be considered if they’ve become cancerous or if benign tumors grow big enough to cause symptoms by putting pressure on nerves, organs or other tissues. The benefits of removal need to be weighed against the risk of causing more damage to nerves or other tissues.

Your doctor may recommend surgery or radiation for such neurofibromatosis treatment. Radiation is sometimes preferred because it can be very precise in removing tumors without harming healthy tissues.

Ongoing treatment for neurofibromatosis

Both children and adults with NF1 or NF2 have regular checkups to follow neurofibromatosis symptoms and screen for evolving problems such as hearing loss, more tumors or tumor growth. Blood tests, X-rays or other tests may be recommended to check any other concerns.