This genetic disorder causes tumors on nerve tissue, but surgery and other therapies can manage pain and other symptoms.
Neurofibromatoses are a group of genetic disorders that cause tumors to form on nerve tissue. These tumors can develop anywhere in the nervous system, including the brain, spinal cord and nerves. There are three types of neurofibromatosis: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2) and schwannomatosis. NF1 is usually diagnosed in childhood, while NF2 and schwannomatosis are usually diagnosed in early adulthood.
The tumors in these disorders are usually noncancerous (benign), but sometimes can become cancerous (malignant). Symptoms are often mild. However, complications of neurofibromatosis can include hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain.
Neurofibromatosis treatment focuses on encouraging healthy growth and development in children who are affected by the disorder and on early management of complications. When neurofibromatosis causes large tumors or tumors that press on a nerve, surgery can reduce symptoms. Some people may benefit from other therapies, such as stereotactic radiosurgery or medications to control pain. A new medication is available to treat tumors in children, and other new treatments are being developed.
There are three types of neurofibromatosis, each with different signs and symptoms.
Neurofibromatosis 1 (NF1) is usually diagnosed during childhood. Signs are often noticeable at birth or shortly afterward and almost always by age 10. Signs and symptoms are often mild to moderate, but can vary in severity.
Signs and symptoms include:
Neurofibromatosis 2 (NF2) is much less common than NF1. Signs and symptoms of NF2 usually result from the development of benign, slow-growing tumors in both ears (acoustic neuromas), which can cause hearing loss. Also known as vestibular schwannomas, these tumors grow on the nerve that carries sound and balance information from the inner ear to the brain.
Signs and symptoms generally appear during the late teen and early adult years, and can vary in severity. Signs and symptoms can include:
Sometimes NF2 can lead to the growth of schwannomas in other nerves, including the cranial, spinal, visual (optic) and peripheral nerves. People who have NF2 may also develop other benign tumors.
Signs and symptoms of these tumors can include:
This rare type of neurofibromatosis usually affects people after age 20. Symptoms usually appear between ages 25 and 30. Schwannomatosis causes tumors to develop on the cranial, spinal and peripheral nerves — but rarely on the nerve that carries sound and balance information from the inner ear to the brain. Tumors don't usually grow on both hearing nerves, so people who have schwannomatosis don't experience the same hearing loss as people who have NF2.
Symptoms of schwannomatosis include:
See your doctor if you or your child develop signs or symptoms of neurofibromatosis. The tumors associated with neurofibromatosis are often benign and slow growing.
Neurofibromatosis is caused by genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. The specific genes involved depend on the type of neurofibromatosis:
The biggest risk factor for neurofibromatosis is a family history of the disorder. About half of people who have NF1 and NF2 inherited the disease from an affected parent. People who have NF1 and NF2 and whose relatives aren't affected are likely to have a new gene mutation.
NF1 and NF2 are both autosomal dominant disorders, meaning that any child of a parent who is affected by the disorder has a 50% chance of inheriting the genetic mutation.
The inheritance pattern for schwannomatosis is less clear. Researchers currently estimate that the risk of inheriting schwannomatosis from an affected parent is about 15%.
In an autosomal dominant disorder, the changed gene is a dominant gene on one of the nonsex chromosomes, also known as autosomes. A person needs only one irregular gene to be affected by this type of disorder. A person with the disorder — in this case, the father — has a 50% chance of having an affected child, male or female.
Complications of neurofibromatosis vary, even within the same family. Generally, complications result from tumors that affect nerve tissue or press on internal organs.
Complications of NF1 include:
Complications of NF2 include:
The pain caused by schwannomatosis can be debilitating and may require surgical treatment or management by a pain specialist.
Your doctor will start with a review of your personal and family medical history and a physical examination.
Your doctor will check your skin for cafe au lait spots, which can help diagnose NF1.
If additional tests are needed to diagnose NF1, NF2 or schwannomatosis, your doctor might recommend:
For a diagnosis of NF1, you must have at least two signs of the condition. If your child has only one sign and no family history of NF1, your doctor will likely monitor your child for the development of any additional signs. A diagnosis of NF1 is usually made by age 4.
Genetic testing may help establish the diagnosis.
There isn't a cure for neurofibromatosis, but signs and symptoms can be managed. Generally, the sooner someone is under the care of a doctor trained in treating neurofibromatosis, the better the outcome.
If your child has NF1, your doctor is likely to recommend yearly age-appropriate checkups to:
Contact your doctor promptly if you notice any changes in signs or symptoms between visits. Many complications of NF1 can be treated effectively if therapy starts early.
Selumetinib (Koselugo) is a treatment for plexiform neurofibroma in children. Clinical trials of similar drugs are currently ongoing for children and adults.
Your doctor might recommend surgery or other procedures to treat severe symptoms or complications of neurofibromatosis.
Malignant tumors and other cancers associated with neurofibromatosis are treated with standard cancer therapies, such as surgery, chemotherapy and radiation therapy. Early diagnosis and treatment are the most important factors contributing to a good outcome.
Managing pain is an important part of treatment for schwannomatosis. Your doctor might recommend:
Researchers are testing gene therapies for NF1. Potential new treatments could include replacing the NF1 gene to restore the function of neurofibromin.
Caring for a child with a chronic condition such as neurofibromatosis can be a challenge. But many children with neurofibromatosis grow up to live healthy lives with few, if any, complications.
To help you cope:
Seek academic support for children who have learning disabilities.
You may be referred to a doctor who specializes in brain and nervous system conditions (neurologist).
It's a good idea to be well prepared for your appointment. Here's some information to help you get ready and know what to expect from your doctor.
Your time with your doctor is limited. Preparing a list of questions can help you make the most of your time together. List your questions from most important to least important in case time runs out. For neurofibromatosis, some basic questions to ask your doctor include:
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask other questions that occur to you.
Your doctor is likely to ask you a number of questions. Being ready to answer them may allow time later to cover other points you want to address. Your doctor may ask: