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Neurofibromatosis

Information about neurofibromatosis, as well as guidance about what support is available from Changing Faces and other organisations.

What is neurofibromatosis?

Neurofibromatosis is a set of three genetic conditions which cause tumours to grow along the nerves. The name “neurofibromatosis”, translated roughly, means “nerve tumour increase”. Tumours are non-cancerous but may cause a range of symptoms of varying severity. Neurofibromatosis can affect all ages, races and genders.

There are three conditions which come under the heading “neurofibromatosis”:

  • Neurofibromatosis type 1 (NF1), sometimes known as von Recklinghausen disease
  • Neurofibromatosis type 2 (NF2)
  • Schwannomatosis

In some patients, marks and tumours caused by NF1 may lead to changes to your appearance. This can impact your mental health. NF2 and schwannomatosis are less likely to lead to visible differences. On this page, we will focus mainly on NF1, as this is the most likely to lead to symptoms which may affect your appearance. However, we have also included some information about NF2 – you can skip to that section of the page by clicking here.

You can find out more about NF2 and schwannomatosis on the Nerve Tumours UK and NHS websites:

Signs and symptoms of NF1

NF1 causes a lot of different symptoms. Some of these may affect patients very mildly, causing little more than minor skin changes. About a third of patients have a related medical condition at some point in their lives. These related conditions may be mild or more severe.

Symptoms of NF1 may include the following, although you won’t necessarily have all of these symptoms:

  • Painless coffee-coloured patches (known as “café-au-lait spots”) may be present at birth or develop in the first three years.
  • Freckle clusters in unusual places, particularly the armpits or groin, which usually appear by age 5.
  • Non-cancerous nerve tumours, known as “neurofibromas”. These may appear as pea-size bumps on the skin (cutaneous neurofibromas). If they develop where several nerves meet (plexiform neurofibromas), large swellings may occur. These can cause pain, weakness, numbness, bleeding and, depending on the location, bowel or bladder problems. The number of tumours varies.
  • Tumours of the optic pathway affect around 15% of children with NF1, usually appearing by age 6. Smaller tumours may not affect the vision at all, but faster-growing tumours can interfere with the eyesight.
  • Growths on the iris of the eye (known as “Lisch nodules” or “iris hamartomas”), which are usually harmless.
  • Bone problems, often affecting the eye socket and tibia (shinbone).
  • High blood pressure.
  • Symptoms affecting physical development, including scoliosis (which causes the spine to curve sideways), which affects about 10% of NF1 patients. Other symptoms include a larger-than-average head and smaller overall size.
  • Around half of children with NF1 have attention deficit hyperactivity disorder (ADHD).
  • Between one and two-thirds of people with NF1 have learning difficulties.

Other symptoms which may occur:

  • Malignant peripheral nerve sheath tumours – cancers which typically develop in the late 20s or early 30s.
  • Brain tumours, which may cause no noticeable symptoms.
  • Gastrointestinal symptoms, depending on the location of tumours, which may cause pain, bleeding from the bottom and diarrhoea or constipation.
  • Migraines.

NF1 may be affected by pregnancy. Most women with NF1 should be able to have a healthy pregnancy. Sometimes, more neurofibromas can appear because of hormonal changes brought on by pregnancy.

Women under 50 who have NF1 are at an increased risk of breast cancer, and should begin screenings aged 40.

How do symptoms affect the appearance?

NF1 may not affect the way you look. However, some people with NF1 experience one or more symptoms which affect their appearance:

  • Café-au-lait spots, the most common symptom, may be the only visible symptom of NF1.
  • In some patients, neurofibromas may cause significant visible differences. However, in many cases, neurofibromas may be invisible to others.
  • Scoliosis, an enlarged head, smaller-than-average size are other possible symptoms which affect the physical appearance of people with NF1.

What causes NF1? Is it genetic?

Yes, NF1 is a genetic condition, caused by a change to a particular gene.

NF1 can be inherited. If a parent has the gene, each child they have has a 50% chance of inheriting that gene. About half of people with NF1 have inherited the gene from a parent.

The other half have developed the gene spontaneously, for no known reason and with no family history. If you have a child who develops the NF1 gene in this way, it is very unlikely any other children you have will develop the gene.

Someone who develops the gene spontaneously has a 50/50 chance of passing it on to each child they have.

How is NF1 diagnosed?

It is fairly easy to diagnose NF1 based on symptoms in adults and older children. In most cases, symptoms have developed by the teenage years.

It may be more challenging to diagnose NF1 in babies and young children because symptoms are less evident. Scans and a biopsy may be performed to help with diagnosis. A blood test is available to diagnose NF1, but it is not 100% accurate. About 5% of children who test negative for the gene go on to develop NF1.

Treatments for NF1

There is no cure for NF1. However, various treatments are available to reduce and control symptoms or treat secondary conditions.

  • Surgery may be performed to remove tumours and treat bone problems.
  • Medication and other treatment may be used to control secondary conditions, such as high blood pressure, migraines, gastrointestinal symptoms and cancer.
  • Physiotherapy may improve muscle strength, balance, posture and mobility, and reduce pain and discomfort.
  • Pain relief may be used to manage pain and discomfort.

Types of neurofibromatosis

NF1 is one of three types of neurofibromatosis. The others are neurofibromatosis type 2 (NF2) and schwannomatosis. These types are less likely to cause a change to patients’ physical appearance.

How can neurofibromatosis type 2 affect my appearance?

It is less common for NF2 to affect your physical appearance than NF1. In NF2, tumours mainly develop along the nerves responsible for hearing and balance, causing hearing loss, tinnitus and balance problems.

However, in some cases, NF2 may affect the facial nerve. When this happens, tumours may cause facial muscle weakness and facial nerve damage can also occur following surgery. This is known as “facial palsy”. As well as causing a visible difference, palsy may also affect communication.

You can read more about NF2 and schwannomatosis on the NHS and Nerve Tumours UK websites:

Neurofibromatosis and my appearance

The impact of neurofibromatosis on the physical appearance varies significantly from person to person. For example, visible symptoms could range from a number of café-au-lait spots, clusters of moles or large neurofibromas. Neurofibromas can develop over time, which means your visible difference may change.

You may feel self-conscious about your appearance. You may notice people looking at you. It can be particularly hard if you experience people commenting or asking questions about the way you look.

If you experience difficulties related to your appearance, help is available, and we talk about this in the next section.

What neurofibromatosis support can we offer?

If you are struggling due to the impacts of a visible difference, support services are available.

You may find our counselling and wellbeing support sessions helpful. Over a series of confidential, one-to-one sessions, our trained wellbeing practitioners provide guidance and support to help you manage the social, emotional and psychological impacts of living with a visible difference.

We also have a range of self-help guides to help you cope with the social and emotional impacts of living with a visible difference. We cover topics such as how to cope with other people’s reactions, how to manage in the workplace, and relationships and dating. Our resources also provide guidance on how to manage the impacts on your self-esteem and mental health.

You do not have to change your appearance to fit in with others’ expectations. However, if you decide that reducing your visible difference is the best option for you, we may be able to help you through our Skin Camouflage Service. Our practitioners use creams and powders to reduce the appearance of certain marks, scars and conditions by matching the affected area to the surrounding skin. Although this is not appropriate for all of the symptoms associated with neurofibromatosis, it may be effective at reducing the appearance of symptoms such as café-au-lait spots. Have a look at our dedicated page to learn more and find out how to make a self-referral.

As well as our Skin Camouflage Service, counselling and wellbeing support and self-help guides, there are a number of other ways we can support people with neurofibromatosis here at Changing Faces:

Our Support and Information Line is your first port of call when accessing our other services. As well as connecting you to other forms of support, our friendly team offer support calls for you to talk about the impact of neurofibromatosis on your life.

Other organisations

Guidance, support and advice is also available from other organisations. Please follow the links to their websites to learn more.

Nerve Tumours UK logo

Nerve Tumours UK

Nerve Tumours UK is a national charity which provides support to people with neurofibromatosis and their families, and the healthcare community. They offer medical support and information, regional patient days, online communities for people impacted by neurofibromatosis and a national helpline.

Outlook logo

Outlook

A national, highly specialist psychological service based at North Bristol NHS Trust, supporting adults (16+) with appearance-related distress. They can provide face-to-face and remote support via NHS Attend AnyWhere. Please speak to your GP or healthcare professional to discuss a referral.

NHS

Please have a look at the NHS conditions page for official guidance on NF1, including causes, symptoms and impacts, as well as treatments available on the NHS. You can also read the latest information about the impact of coronavirus (COVID-19) on NHS services.