Neurofibromatosis type 1 - Treating neurofibromatosis type 1

There is currently no cure for neurofibromatosis type 1 (NF1), so management involves regular monitoring and treatment for problems as and when they arise.

As NF1 is a relatively rare condition, it's likely your care will be managed by a team of health professionals working at a specialist centre.

Monitoring

It's recommended that most children with NF1 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 test
measuring your child’s physical development
assessing your child’s abilities in activities such as reading, writing, problem solving and comprehension

As a child gets older, they may have fewer examinations if their symptoms are mild. However, they may need more examinations 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.

Skin problems

Café au lait spots

There is currently little effective treatment for coffee-coloured patches (café au lait spots), which are common in NF1. Laser treatment has been tried with little effect.

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.

Neurofibromas

The bumps on or under the skin (neurofibromas) may not require any treatment if they are small. However, treatment can be used if the neurofibromas:

are particularly unsightly and cause emotional distress
cause irritation, itchiness or pain
press on vital structures of the body, such as the hands, feet or eyes

It may be possible to remove small neurofibromas using laser surgery. However, in most cases, plastic surgery is required. The surgeon will cut the neurofibromas out of the body before resealing the skin.

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 scarring and occasionally there may be a delay in wound healing.

Plexiform neurofibromas

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 bone.

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 (paralysis). 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.

Learning difficulties

If your child has a learning difficulty, your local authority should draw up a Statement of Special Educational Needs (SEN). The statement will outline what your child’s special educational needs are and how they can be met. For example, a SEN may state how many hours of teaching support your child should get each week. The SEN 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, who is trained to help people who have problems with any aspect of speech and language
an educational psychologist, who helps people who have problems adapting to an educational setting (the aim is to improve their learning abilities)
an occupational therapist, who helps people improve the skills they need to carry out daily activities

Behavioural problems

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

High blood pressure

Moderately high blood pressure can usually be brought under control 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 will require treatment with medication, such as angiotensin-converting enzyme (ACE) inhibitors.

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, your child will need regular eye examinations so that the status of the tumour can be closely monitored. If your child experiences symptoms, a number of medications can be used to help shrink the tumour.

Bone problems

Scoliosis

If your child develops an abnormally curved spine (scoliosis), the recommended treatment will depend on how severe the curvature is.

Mild cases may require no 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.

Pseudarthrosis

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 that involve the bones of the limbs, surgery does not repair the bone. In this case, it is necessary to amputate a section of the limb in order to restore normal function.

People with pseudarthrosis should be referred to specialist orthopaedic centres that are used to treating this complication.

Brain and nervous system problems

Tumours

Tumours that develop inside the brain or nervous system do not always cause symptoms, but they occasionally 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, the use of 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

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 are an adult with NF1 and you develop cancer in a section of your nerve tissue (known as malignant peripheral nerve sheath tumour or MPNST), surgically removing the tumour will usually be 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.