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:

• Guys & St Thomas NHS Foundation Trust in London
• Central Manchester University Hospitals NHS Foundation Trust  

Monitoring

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 childs physical development
• assessing your childs 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.

Skin problems

Caf au lait spots

Usually, there's no need for treatment of caf 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.

Neurofibromas

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.

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 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.

Learning difficulties

If your child has a learning difficulty, your local authority should draw up a Statement of Special Educational Needs. The statement outlines your childs 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

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.

Bone problems

Scoliosis

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 childs 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.

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

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

Epilepsy can be treated with a number of different medications that help reduce the frequency of seizures.

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

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.