Neurofibromatosis is a rare genetic condition that causes multiple benign (noncancerous) tumors called neurofibromas to form along nerves in the brain, spinal cord, and nerves. Neurofibromas are often painless and slow-growing, but they can sometimes cause functional impairment depending on their size and location. The condition is caused by mutations in specific genes that regulate cell growth and tumor suppression.
At UPMC, we use advanced diagnostic and surgical techniques, including the endoscopic endonasal approach (EEA) for skull base tumors. This innovative, minimally invasive technique uses the nose and nasal cavities as natural corridors to access hard-to-reach or previously inoperable tumors.
On this page:
What Are Neurofibromatosis and Neurofibromas?
Neurofibromatosis is a rare genetic condition that causes multiple benign (noncancerous) tumors called neurofibromas to form along nerves in the brain, spinal cord, and nerves.
Neurofibromas are often painless and slow-growing, but they can sometimes cause functional impairment depending on their size and location. The condition is caused by mutations in specific genes that regulate cell growth and tumor suppression.
Neurofibromas are benign tumors of peripheral nerves. They arise from the cells that form and support the nerve sheath: Schwann cells, fibroblasts, and perineural cells.
These tumors infiltrate the nerve and disrupt the sheaths of individual fibers. The most commonly affected nerve is the vestibulocochlear nerve, which transmits sound and balance information to the brain from the inner ear.
Neurofibromas can be single or multiple. When multiple, they are associated with neurofibromatosis type I, a genetic disorder also known as von Recklinghausen disease.
What are the types of neurofibromatosis?
There are two types of neurofibromatosis:
- Neurofibromatosis type 1 (NF1) — The most common form, affecting about one in 3,500 people. It typically presents in childhood with skin changes (cafe au lait spots, freckling) and benign neurofibromas. NF1 is caused by mutations in the NF1 gene on chromosome 17.
- Neurofibromatosis type 2 (NF2) — Much rarer, affecting about one in 40,000 people. It often presents in adolescence or early adulthood with vestibular schwannomas (tumors on the auditory nerve), leading to hearing loss and balance problems. NF2 is linked to mutations in the NF2 gene on chromosome 22.
- Schwannomatosis — Previously considered a variant of NF2,schwannomatosis is now recognized as distinct. It is the rarest type, usually diagnosed in adulthood, and causes multiple schwannomas on nerves throughout the body, but typically spares the vestibular nerve.
How common is neurofibromatosis?
NF1 affects about one n 3,500 people. NF2 affects about one in 40,000 people.
What causes neurofibromatosis?
About half of people with neurofibromatosis inherit the gene mutation that causes the condition from a parent. The other half of people develop a spontaneous gene mutation that causes the condition. Genetic testing is increasingly important for diagnosis, prognosis, and family planning.
Neurofibromatosis risk factors
You may be at higher risk of developing neurofibromatosis if you have a parent who has been diagnosed with the condition.
Complications of neurofibromatosis
Neurofibromatosis and neurofibromas may cause complications, including:
- Hearing loss and balance dysfunction (NF2).
- High blood pressure and vascular abnormalities.
- Increased risk of breast cancer in women with NF1 (especially under age 50).
- Learning disabilities and ADHD (in up to 50% of NF1 patients).
- Malignant peripheral nerve sheath tumors (lifetime risk about 10% in NF1).
- Skeletal problems — Scoliosis, bone dysplasia, pseudoarthrosis.
- Vision loss from optic pathway gliomas (NF1).
How can I prevent neurofibromatosis and neurofibromas?
There is nothing you can do to prevent neurofibromatosis and neurofibromas.
What Are the Signs and Symptoms of Neurofibromatosis?
Symptoms of neurofibromatosis depend on the location and size of the tumors. Neurofibromas typically are painless, slow-growing masses, and may cause no symptoms.
Signs of neurofibromatosis may include:
Skin findings (NF1)
- “Café au lait” spots — Flat, light brown spots on the skin. People with neurofibromatosis almost always have more than six of these spots.
- Freckling in the armpits or groin — Typically appears by age 5.
- Growths on the iris — Harmless nodules on the eye.
- Neurofibromas — Soft, pea-sized bumps that appear on or beneath the skin, or on nerves throughout the body. Symptoms depend on the size and location of the tumors, but they are typically painless and slow-growing. You may feel an electric-like shock when light pressure is applied to the tumor. If a motor or sensory nerve is involved, the associated nerve function may be affected.
- Plexform neurofibromas — Larger, deeper, more invasive tumors
Nervous system findings
- NF1: Learning difficulties, seizures, headaches, and sometimes optic gliomas.
- NF2 — Vestibular schwannomas causing progressive hearing loss, tinnitus, and imbalance.
- Schwannomatosis — Chronic pain from multiple schwannomas.
Symptoms vary widely, even within families, and require lifelong monitoring.
When should I see a doctor about my neurofibromatosis symptoms?
If you or your child has symptoms of neurofibromatosis, you should schedule an appointment with your doctor right away. Early diagnosis and monitoring may improve treatment outcomes and reduce the risk of complications later in life.
How Do You Diagnose Neurofibromatosis and Neurofibromas?
To diagnose neurofibromatosis and neurofibromas, your doctor will ask about your symptoms and family history. They'll do a physical exam and order imaging tests.
- NF1 diagnostic criteria (2021 update) — At least two of the following: six or more cafe au lait spots, two or more neurofibromas or one plexiform neurofibroma, axillary (armpit)/groin freckling, optic glioma, two or more Lisch nodules (iris hamartomas), distinctive bone lesion, or first-degree relative with NF1.
- NF2 diagnosis — Bilateral vestibular schwannomas on MRI, or family history plus unilateral vestibular schwannoma or other related tumors.
- Schwannomatosis — Genetic testing plus clinical findings of multiple non-vestibular schwannomas.
What to expect during your visit
If your doctor suspects neurofibromatosis or neurofibroma, they will:
- Ask about your symptoms and family history.
- Perform a physical exam.
- Order imaging tests.
- Review your health history and medications.
Tests to diagnose neurofibromatosis or neurofibroma
Your doctor may order tests to diagnose neurofibromatosis and neurofibroma, including:
- Magnetic resonance imaging (MRI) — To detect tumors in the brain, spinal cord, and nerves.
- CT scan — For bone involvement.
- Biopsy — Rarely needed, but confirms tumor type.
- Genetic testing — Confirms diagnosis and guides family counseling.
Neurofibromatosis prognosis
If you are diagnosed with neurofibromatosis, you will need ongoing monitoring and follow-up care to manage complications that may develop throughout your life.
What is the life expectancy of someone with neurofibromatosis?
Life expectancy for people with neurofibromatosis varies by type:
- NF1 — Most patients have a normal lifespan, though complications may arise.
- NF2 — Prognosis depends on tumor burden and treatment of vestibular schwannomas; hearing preservation is a key challenge.
- Schwannomatosis —Normal life expectancy, but chronic pain can impact quality of life.
Ongoing follow-up is essential, as new tumors may develop throughout life.
How Do You Treat Neurofibromatosis and Neurofibromas?
There is no cure for neurofibromatosis. However, treatment can help control symptoms and manage complications of neurofibromatosis that are related to the development of neurofibromas.
Monitoring and medical care
- Annual physical and neurological exams.
- Regular MRI scans for tumor monitoring.
- Ophthalmology exams for NF1 children (optic gliomas).
- Hearing evaluations for NF2 patients.
Surgical and minimally invasive options
- Endoscopic endonasal approach (EEA) — At UPMC, EEA is the preferred surgical treatment for skull base neurofibromas. This innovative, minimally invasive technique — pioneered and refined at UPMC — uses the nose and nasal cavities as natural corridors to access hard-to-reach or previously inoperable tumors. Benefits of EEA treatment include no incisions to heal, no disfigurement, and faster recovery times.
- Microsurgical tumor removal — For symptomatic or enlarging neurofibromas or schwannomas, balancing tumor removal with preservation of nerve function.
- Gamma Knife™ radiosurgery — For vestibular schwannomas or other intracranial tumors in select cases.
Medications and emerging therapies
- Selumetinib (MEK inhibitor) — FDA-approved for pediatric NF1-related plexiform neurofibromas, shown to shrink tumors and improve function.
- Clinical trials are exploring targeted therapies for NF2 and schwannomatosis, including other MEK inhibitors, mTOR inhibitors, and immunotherapies.
Why Choose UPMC for Neurofibromatosis and Neurofibroma Care?
When you choose UPMC for neurofibromatosis and neurofibroma care, you will receive:
- Access to world-class neurosurgery expertise — Our world-renowned experts treat the full spectrum of skull base and neurosurgical conditions using the latest diagnostic and treatment techniques.
- A full range of treatment options — We offer nonsurgical care and noninvasive, minimally invasive, and traditional open surgical procedures. This allows us to effectively treat all types of disorders while reducing your risk of complications.
- Multidisciplinary care — Our neurosurgeons partner with neurologists, rehabilitation specialists, and other medical experts to provide complete care that optimizes your recovery and quality of life.
