This information is intended to provide a general overview of Neurofibromatosis (NF). It is not a substitute for professional medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider for any health concerns or before making any decisions related to your health.
Neurofibromatosis (NF) is a rare, progressive, and unpredictable group of inherited conditions that cause tumours to grow in the nervous system, typically in and around nerve cells. These tumours can develop in various parts of the body, including the brain, spinal cord, adrenal gland, eyes, and muscle tissue.
While most neurofibromatosis tumours are benign (non-cancerous), they can still pose significant health risks, such as leading to disfigurement. Growths on or near the spinal cord and surrounding nerves may cause paralysis. In approximately 10% of cases, these tumours can become malignant (cancerous). Early detection is vital for patients whose tumours present a serious health risk.
Neurofibromatosis is classified as a collection of three distinct genetic disorders. Each type is caused by a gene mutation that can either be inherited from a parent or occur as a new, random change in an individual's DNA. In both scenarios, the condition can be passed down to the patient's children.
This is the most frequently diagnosed type, affecting roughly 1 in every 3,500 births. While most NF1 patients have mild to moderate symptoms, it is a progressive disorder that may lead to disfigurement, skeletal abnormalities, and learning disabilities.
This type is much rarer and is primarily characterised by tumours that form on the vestibular nerve, a nerve responsible for hearing and balance. NF2 also carries an increased risk of other nervous system tumours and may cause severe vision problems.
This is also a very rare form, defined by the presence of multiple schwannomas—tumours that grow around nerves without involving the skin or other organs—everywhere in the body except on the vestibular nerve.
The symptoms of Neurofibromatosis vary significantly depending on the type of the disorder.
The most common symptoms of NF1, which almost always appears by the age of 10, include:
NF2 is distinguished by tumours that grow on the hearing nerves, usually manifesting between the ages of 18 and 22. This can lead to:
This form of the disease is genetically distinct from NF1 and NF2. It results in benign nerve cell tumours called schwannomas, which can occur anywhere on the body except the vestibular nerve. Symptoms primarily involve:
Sometimes-serious pain caused by the growths pressing on nerves and surrounding tissue.
Diagnosing Neurofibromatosis is a precise process. Our specialists primarily rely on a thorough physical examination. In addition, for more complex cases, our experts may perform specialised investigations to confirm the diagnosis and determine the risk for tumour development. The diagnostic process may include:
A detailed check for characteristic signs and symptoms, such as café-au-lait spots and neurofibromas.
Specialised tests to identify mutations in the genes associated with NF.
Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) scans to locate and assess tumours within the nervous system.
For children, a paediatric neuropsychologist is available at SSCHRC's Cancer Hospital to determine any learning disabilities the patient may be facing.
The physicians at SSCHRC are highly specialised in diagnosing and managing neurofibromatosis and the cancers that can arise from the condition. We welcome the opportunity to provide second opinions.
Neurofibromatosis is a progressive disease, meaning patients require continuous, long-term monitoring to manage their specific symptoms and complications. Treatment is always highly personalised and depends on the location, size, and type of tumour(s) present.
At SSCHRC, our comprehensive programme for NF patients is designed to address the many potential complications of the disorder, which can include hearing and vision problems, learning disabilities, and chronic pain.
Patients are cared for by a team of experts, including specialists in treating tumours affecting the eyes and ears, and surgeons who can operate on tumours throughout the body.
Should a tumour become cancerous, our NF patients have access to all the care available at SSCHRC, a top-tier cancer centre.
The most innovative treatments for neurofibromatosis are often offered through clinical trials, which are carefully monitored studies to test the safety and effectiveness of new therapies. You may speak to your doctor to see if you or your child are eligible for one of these trials.