What is Neurofibromatosis Type 1 (NF1)?

Neurofibromatosis type1 (NF1) is the most common type of the 3 types of neurofibromatosis affecting around 1 in 3000 people.

For a brief overview we suggest you watch our video

NF1 causes tumours to grow on nerves.

NF1 isn’t spread like a cough or cold, it’s decided by DNA. DNA
determines all kinds of things about us, suchas how tall we are, and what colour eyes and hair we have. People with NF1 have differences in their DNA that can’t be controlled by factors outside of their body. NF1 can be passed down through the DNA of a child’s mother or father.

However, in up to 50% of cases, the condition is the result of a spontaneous genetic change in the child’s DNA, meaning they are the first THis in the family to have it.

The first sign of NF1 is usually marks on the body called cafe au lait marks. People with NF1 will have 6 or more of these marks. These do not usually appear all at once, they can appear at birth but usually follow a little later. This is why it is important to monitor any ‘birth’ marks on a child for the first few years of life. When only one side of the body has cafe au lait marks or freckling it may be a sign of mosaic NF1, which only affects part of the body.

NF1 can vary from patient to patient and there is no telling how anyone will be affected. For this reason it is important that everyone is monitored regularly and any new symptoms discussed with your Health Care provider.

It is a very hard condition to describe as there are so many manifestations. However it is very important to remember that nobody will get all of them.

Below is a summary of some of the most common.

Neurofibromas

Dermal neurofibromas

These are tumours that grow on (cutaneous neurofibromas) or just under the skin (subcutaneous neurofibromas) and are usually small, the amount any one can get can vary hugely. They can cause itching and discomfort depending on where they are, as well as psychological issues, particularly if there are multiple visual neurofibromas

Plexiform neurofibromas

These are less common tumours, that you are born with them, although they may not be noticeable until later in life. These can grow quite large and depending on where they are can cause problems. There is a small chance these can become malignant

Optic Pathway Gliomas

These are tumours on the optic nerve and around 15% of children with NF1 will develop one.

Bone Deformities

Scoliosis is relatively common in NF1, other bone manifestations can be bowing of the long bone below the knee (tibia dysplasia) or a bulging of the skin around the eye (sphenoid wing dysplasia)

Headaches and Migraines

These are common in NF1, however because of the increased risk of brain tumours any severe or constant pain, particularly if accompanied with nausea and vision issues needs discussing with your medical professional

Learning Difficulties

Around 40 – 60% of children with NF1 will have some form of learning difficulties. We have a whole section on NF1 and Education

Psychological & Social Issues of NF1

Because of the uncertainty surrounding NF1, not knowing how it will affect you or your child can be incredibly stressful for the patient and their family. – The ‘watch and wait’ often leads to anxiety, many are unsure what they are watching and waiting for.

Cancer

There is a slight increased risk of cancer with NF1 – it is a tumour prone condition in particular

  • MPNST – when a plexiform tumour becomes malignant
  • BREAST CANCER – 5 fold increased risk for women with NF1 between the ages of 30 – 50 Then risk the same as general population

There are some things you can do to help.

  1. Avoid radiation – ask for alternative scans when possible ie MRI over an x-ray – sometimes it’s just not possible.
  2. Avoid excessive long-haul flights with young children
  3. As with anyone with or without NF1 try to eat a healthy balanced diet
  4. Self-check your breasts from age 30 or before
  5. Watch for any changes – increased pain or tumour growth

There are many other possible manifestations of NF1, but we don’t feel this is the place to list them all, it can become too overwhelming. It is better to have a discussion with your Health Care provider join some of the support groups linked to an NF charity or order our book My child’s been diagnosed with Neurofibromatosis – What now?

Explaining a diagnosis of NF1 to your child can be difficult, and often finding the right time is hard.  We have produced a booklet using our mascot Patches to explain a diagnosis.

Diagnosis is often a scary time but remember you are not alone and most people with NF1 have fulfilling lives

25,000 people in the UK live with Neurofibromatosis Type 1. Many of these are children and young people. Their young lives revolve around hospital appointments, consultants, scans and operations. There is no cure. However with regular check-ups and appropriate care, many people affected with NF1 can lead fulfilling lives.