Treatment - Neurofibromatosis type 1

Treatment for neurofibromatosis type 1 (NF1) involves regular monitoring and may include physiotherapy, psychological support and pain management. Any problems are treated by a team of health professionals.

If you develop complex problems, you'll usually be referred to 1 of 2 specialist NHS centres so a treatment plan can be drawn up. These are:

• Guy's & St Thomas' NHS Foundation Trust in London
• Manchester University NHS Foundation Trust

Monitoring

Most children with NF1 are advised to have a comprehensive examination each year. This may include:

• a detailed skin examination to check for new plexiform neurofibromas – older children may also be monitored for neurofibromas
• a vision test and an examination of both eyes
• a bone assessment to check for problems such as curvature of the spine (scoliosis) or poorly healed bone fractures
• behavioural assessments
• blood pressure measurement
• measuring their physical development
• assessing their progress at school – particularly 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.

Adults with NF1 also need regular assessments. These may include:

• a detailed skin examination to check for neurofibromas
• a bone assessment to check for problems such as curvature of the spine (scoliosis) or vitamin D deficiency
• blood pressure measurement
• neurological assessment
• assessing emotional wellbeing and how their employment is going
• assessing any learning problems – some adults may benefit from adult literacy classes

Skin problems

Café au lait spots

There's usually no need for treatment of café au lait spots, which are common in NF1. Sometimes they fade as people get older.

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 tumours on or under the skin (neurofibromas) may not require any treatment if they're small. However, treatment can be used if the neurofibromas are painful or causing emotional distress.

Plastic surgery is usually needed. The surgeon cuts the neurofibromas out of the body before resealing the skin.

Depending on the size and location of the neurofibromas, they may be able to be treated with laser surgery or an electric current (electrodessication) instead.

The results of surgery are usually good, although the procedure can leave some thickened scarring and there may occasionally 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.

You should consult a specialist neurofibromatosis centre for advice about removal of plexiform neurofibromas and other treatments that may be available.

Learning difficulties

If your child has a learning difficulty, support is available.

Contact the special educational needs co-ordinator (SENCO) in your child's school or nursery.

Contact your local council if your child is not in a school or nursery.

As well as extra help in class, some children with NF1 require additional support from other professionals, such as:

• a speech and language therapist
• an educational psychologist, who helps improve learning abilities
• an occupational therapist, who helps improve the skills needed to carry out daily activities

Read more about support for children with special educational needs and disabilities

High blood pressure

Some people can control high blood pressure by making lifestyle changes including:

• reducing the amount of salt in their diet
• doing regular exercise
• maintaining a healthy weight
• moderating alcohol consumption and not smoking

Very high blood pressure requires treatment with medicine.

Read more about treating high blood pressure

Optic pathway tumours

If your child develops a tumour inside the nerve connecting the eye and the brain (the optic nerve) that does not cause any symptoms, no immediate treatment is necessary. This type of tumour, called 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 to monitor the tumour. If your child experiences symptoms, chemotherapy can be used to help shrink the tumour.

Radiotherapy is not used for optic nerve tumours because it can cause problems with cancerous tumours, blood vessels, hormones and learning.

Bone problems

Scoliosis

Treatment for an abnormally curved spine (scoliosis) depends on how severe the curvature is.

Mild cases do not always require treatment because your child's spine may correct itself as they get older. Moderate cases can be treated using a back brace.

Surgery may be required to realign the bones of the spine into the correct position in severe cases of scoliosis.

Read more about treating scoliosis

Pseudarthrosis

Surgery can also be used to treat poorly healed bone fractures that disrupt the normal movement of the bones (pseudarthrosis).

Possible surgical options are to reconnect 2 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 does not 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 do not always cause symptoms, but they can disrupt the normal functions of the body.

If treatment is needed, it may involve surgery or drug treatment.

Radiotherapy for tumours

Radiotherapy should not be used to treat benign tumours as it can increase the risk of developing cancer.

It's sometimes used to treat malignant tumours on the advice of specialist doctors.

Epilepsy

Epilepsy can be treated with a number of medicines 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, called a malignant peripheral nerve sheath tumour (MPNST), surgical removal is usually recommended.

Radiotherapy and chemotherapy may be given after surgery to reduce the risk of the cancer coming back, although it's uncertain 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 or ultrasound scan. They can be surgically removed.