Treating neurofibromatosis type 1
Someone with neurofibromatosis type 1 (NF1) will need regular monitoring and any problems treating by a team of health professionals.
If you develop complex problems, you'll usually be referred to one of two specialist NHS centres so a treatment plan can be drawn up. These are:
Most children with NF1 are recommended to have a comprehensive examination each year. This may include:
- a detailed examination of their skin to check for new neurofibromas (bumps on or under the skin) or changes in existing ones
- a vision test and an examination of both eyes
- a bone assessment to check for problems such as scoliosis (abnormal curvature of the spine) or poorly healed bone fractures
- a blood pressure measurement
- measuring your child’s physical development
- assessing your child’s progress at school – abilities in activities such as reading, writing, problem solving and comprehension
As a child gets older, they should ideally still be seen once a year. Over time they'll learn to monitor their own health so they know when to seek help. However, they may need more assessments if they develop complex health needs.
Contact your specialist centre if your child develops any new symptoms in between their annual examinations, or if their existing symptoms get worse.
Café au lait spots
Usually, there's no need for treatment of café au lait spots, which are common in NF1. Sometimes they fade as people get older. Laser treatment is not helpful if you have a lot of them.
If your child finds these patches particularly distressing, one option is to use make-up to cover them up. Camouflage make-up specially designed for covering up skin blemishes is available over the counter at pharmacies.
The bumps on or under the skin (neurofibromas) may not require any treatment if they're small. However, treatment can be used if the neurofibromas:
- are particularly unsightly and cause emotional distress
- cause irritation, itchiness or pain
In most cases, plastic surgery is required. The surgeon cuts the neurofibromas out of the body before resealing the skin. Some small neurofibromas can be treated using laser surgery.
The results of surgery are usually good and most people who have had surgery are happy with the results, although the procedure can leave some thickened scarring and occasionally there may be a delay in wound healing.
Surgery for plexiform neurofibromas (painful neurofibromas that develop inside branches of nerves) can be more challenging. This is because these types of tumours often spread into nearby tissue and may press on important bone structures.
Damage to the nerves can sometimes occur after surgery. This can lead to complications such as a loss of sensation or an inability to move a part of the body. One small study that looked at 120 people who had surgery for plexiform neurofibromas found that around 5% of them had nerve damage.
You should consult a specialist neurofibromatosis centre for advice about removal of plexiform neurofibromas.
If your child has a learning difficulty, your local authority should draw up a Statement of Special Educational Needs. The statement outlines your child’s special educational needs and how they can be met. For example, a statement may set out how many hours of teaching support your child should get each week. The statement will be reviewed every year.
As well as extra teaching, some children with NF1 require additional support from other professionals, such as:
- a speech and language therapist
- an educational psychologist, who helps improve the person's learning abilities
- an occupational therapist, who helps improve the person's skills needed to carry out daily activities
Read more information about special educational needs (SEN).
Behavioural conditions, such as attention deficit hyperactivity disorder (ADHD), are usually treated using a combination of:
- medications, such as methylphenidate, to help improve attention span and concentration
- therapy, such as psychotherapy, where your child will be encouraged to discuss how ADHD affects them and how they could find better ways of coping with the condition
If your child has a social communication disorder, they should be referred to a specialist psychologist for assessment.
Read more about treating attention deficit hyperactivity disorder and treating autism spectrum disorder.
High blood pressure
Some people can control high blood pressure by making lifestyle changes including:
- reducing the amount of salt in your diet
- doing regular exercise
- maintaining a healthy weight
- not smoking and moderating alcohol consumption (in adults)
Very high blood pressure requires treatment with medication.
Read more about treating high blood pressure.
Optic nerve tumours
If your child develops a tumour inside the nerve connecting the eye and the brain (the optic nerve) and it doesn't cause any symptoms, no immediate treatment is necessary. This type of tumour, known as an optic pathway glioma (OPG), is usually very small and slow growing.
However, if your child has an OPG, they will need regular eye examinations so the status of the tumour can be closely monitored. If your child experiences symptoms, chemotherapy can be used to help shrink the tumour.
If your child develops an abnormally curved spine (scoliosis), treatment depends on how severe the curvature is.
Mild cases don't always require treatment because your child’s spine may correct itself as they get older. Moderate cases can be treated using a back brace. This device is worn by your child and is designed to correct the position of their spine over time.
Surgery may be required for severe cases of scoliosis to realign the bones of the spine into the correct position.
Read more about treating scoliosis.
Surgery can also be used to treat poorly healed bone fractures that disrupt the normal movement of the bones (known as pseudarthrosis).
Possible surgical options are to reconnect two pieces of bone using metal screws and rods or to carry out a bone graft. A bone graft is where a fracture in the bone is repaired by taking a small section of bone from another part of the body and using it to "plug" the fracture. The grafted section of bone will grow into the surrounding bones.
In a small number of cases involving the bones of the limbs, surgery doesn't repair the bone. In this case, it's necessary to amputate a section of the limb in order to restore normal function.
People with pseudarthrosis should always be referred to specialist orthopaedic centres used to treat this complication.
Brain and nervous system problems
Tumours developing inside the brain or nervous system don't always cause symptoms, but can disrupt the normal functions of the body.
If treatment is needed, it may involve surgery, drug treatment, or in some cases radiotherapy (where doses of high-energy waves are used to kill cells).
However, radiotherapy can increase the risk of someone with NF1 developing cancer. Therefore, this treatment should only be used if absolutely necessary and after consultation with doctors experienced in treating NF1.
Epilepsy can be treated with a number of different medications that help reduce the frequency of seizures. Read more about treating epilepsy.
Malignant peripheral nerve sheath tumour
If you develop cancer in a neurofibroma on the nerve covering (known as malignant peripheral nerve sheath tumour or MPNST), surgically removing the tumour is usually recommended.
Radiotherapy and chemotherapy may be given after surgery to reduce the risk of the cancer coming back, although there are some uncertainties about how effective these additional treatments are.
Glomus tumours are benign tumours that form around the nail bed in the fingers or toes. Sometimes they lead to purple discolouration around the nail bed.
People with glomus tumours may experience severe pain in a finger after knocking it, when there is change in temperature or if they press on the nail bed.
Glomus tumours are sometimes diagnosed with an MRI scan. They can be removed surgically and this cures the symptoms.
Page last reviewed: 16/03/2015
Next review due: 30/09/2017