Neurofibromatosis

Neurofibromatosis Treatment

Neurofibromatosis (NF) is a rare, progressive neurological disorder causing tumors of the nerve tissue in the brain or spinal cord of the central nervous system. The tumors, called neurofibromas, grow along the nerves or underneath the skin. Currently, there is no cure for neurofibromatosis. Although tumors are usually benign (noncancerous) and symptoms are usually mild, complications can negatively impact quality of life. Neurofibromatosis is estimated to affect about 100,000 Americans, according to the National Institute of Neurological Disorders and Stroke. People of all ages, races, and both sexes are affected equally.

The Department of Neurosurgery at Rutgers Health and RWJBarnabas Health treats patients with all forms of neurofibromatosis (NF), including NF1, NF2, and schwannomatosis. Our multidisciplinary team approach includes board-certified neurologists, neurosurgeons, and comprehensive pain management specialists. We provide access to progressive therapies, including neurosurgery and neuro-oncology.

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Types of Neurofibromatosis

Neurofibromatosis disorders are classified by type: NF1, NF2, and schwannomatosis. Each type has its own specific set of symptoms and applicable treatments.

Neurofibromatosis 1

NF1, also called Von Recklinghausen’s Disease, is a type of neurofibromatosis usually appearing in childhood. Usually evident during or shortly after birth, children begin to show symptoms before age 10. It occurs in about one in every 3,5000 births, according to the American Academy of Neurological Surgeons. It is caused either by a gene mutation inherited from a parent or a spontaneous gene mutation. In children with NF1, treatment is focused on encouraging healthy growth and development.

Symptoms of NF1 include:

  • Multiple light brown spots: Called café-au-lait spots, these are prominent spots which are more than 5 millimeters in diameter in children or more than 15 millimeters across in adults. Having 6 or more of these spots may indicate NF1.
  • Freckling: Flat brown spots commonly appear in the groin or underarms.
  • Growths on the iris of the eye: These are tiny bumps on the iris of the eye which do not affect vision. They are called Lisch nodules or iris hamartomas.
  • Small, benign tumors under the skin: Called neurofibromas, these benign tumors develop in or under the skin which may increase in size over time.
  • Bone deformities: Children may have a curved spine (scoliosis), temple bone abnormalities, or bowed lower legs.
  • Optic nerve tumor: Also called optic nerve gliomas, these usually appear by age 3.
  • Learning disabilities: Usually children have impaired thinking skills and may suffer from attention-deficit/hyperactivity disorder (ADHD).
  • Short stature: Children are usually below average in height.
  • Chromosomal abnormalities: The NF1 gene mutation is located on chromosome 17.

Complications of NF1

  • Neurological problems: Patients may have learning and cognitive difficulties.
  • Skeletal problems: Many patients with neurofibromatosis also present with spinal curvatures, such as scoliosis or kyphosis.
  • Vision problems: Tumors on the optic nerve, called optic gliomas, can affect vision.
  • Cardiovascular problems: High blood pressure is a common concern.
  • Breathing problems: Pressure on the airway can cause difficulty with breathing.
  • Cancer: A small fraction of people diagnosed with NF1 develop cancerous tumors. Women with NF1 should also be tested for breast cancer at an earlier age than the general population.
  • Concerns about appearance: Extensive brown spots or obvious tumors can cause anxiety and emotional distress, even if they aren’t cancerous.

NF1 Treatment

There is no cure for neurofibromatosis, and patients must be monitored for complications. Treatment may include a combination of surgery and focused radiation. For patients with cancerous fibromas, chemotherapy or radiation therapy may be indicated.

Management of NF1 includes assessing the skin to look for new neurofibromas or progression of existing lesions.

Surgery can be used to remove tumors causing pain, and neurofibromas pressing on vital structures need special attention.

Neurofibromatosis 2

Neurofibromatosis 2 (NF2), also called Bilateral Acoustic Neurofibromatosis, which is much less common than NF1, is characterized by the gradual development of benign tumors in both ears. These tumors are called acoustic neuromas. It is also called central neurofibromatosis. It can cause hearing loss, ringing in the ears (tinnitus), poor balance, and headaches. It may be present during childhood, adolescence or early adulthood, and symptoms may be mild or severe.

Patients with NF2 may have partial or total deafness, vision problems, small/benign skin tumors, and facial nerve damage. Some patients experience numbness or weakness in the limbs. Patients often have balance or walking problems and complain of ringing in the ears (tinnitus).

NF2 Diagnosis

  • Genetic testing (the NF2 gene is located on chromosome 22)
  • Imaging studies
  • Examination of the ears and eyes to check for acoustic neuromas
  • Possible cataracts, which are even common in young children

NF2 Treatment

Depending on a patient’s symptoms, treatment for NF2 varies. Numerous nonsurgical treatments are available for vision and hearing problems. Physical or occupational therapy may be useful for balance problems.

Surgery is the first-line treatment for most types of NF2 peripheral nerve tumors. Implantation of a cochlear implant is useful for those who are hard of hearing or deaf.

Schwannomatosis

Formerly categorized as a subtype of NF2, schwannomatosis is the rarest type of neurofibromatosis, causing intense pain. Schwannomatosis causes tumors to grow along the cranial, spinal, and peripheral nerves. It occurs an estimated one out of every 40,000 births, according to the American Academy of Neurological Surgeons. However, it is most common in adults over the age of 20, commonly appearing between the ages of 25 and 30.

Schwannomatosis Treatment

Surgery to remove peripheral nerve tumors may be recommended to relieve symptoms of pain. Non-operative treatments focus on pain management, especially for tumors which are inoperable. Pain management medications may include drugs for nerve pain, such as gabapentin.

Causes of Neurofibromatosis

Neurofibromatosis is caused by inherited or spontaneous gene mutations. The biggest risk factor for neurofibromatosis is having a parent with the disorder, and about half of the individuals affected with NF1 or NF2 inherited the disorder from a parent.

Neurofibromatosis Diagnosis

Diagnosis of neurofibromatosis involves a complete medical history and physical examination. A neurologist is uniquely situated to make a diagnosis of neurofibromatosis.

Your doctor may make a diagnosis of NF1 if a patient has two or more of the following symptoms:

  • A parent with neurofibromatosis
  • 6 or more café-au-lait spots
  • 2 or more small, benign tumors under the skin (neurofibromas)
  • Osseous lesions
  • Growths on the iris of the eye, called Lisch nodules
  • Freckling in the groin and armpits

Your doctor may make a diagnosis of NF2 if you display these symptoms:

  • A family history of NF2
  • Any two of the following types of tumors: glioma, meningioma, or schwannoma

Neurofibromatosis Research

Potential future treatments are currently being researched, including gene therapies for NF1. A potential therapy would include replacing the NF1 gene to restore its proper function.

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