Information about neurofibromatosis, as well as guidance about what support is available from Changing Faces and other organisations.
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”:
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 can also lead to very noticeable visible differences. On this page, we focus mainly on NF1, as this is the most common form of neurofibromatosis. However, we have also included some information about NF2 and schwannomatosis – 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:
It’s taken a long time to get there, but I now love that my skin is different. There is nothing ‘wrong’ with my skin, it’s just a different colour in places.
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:
Other symptoms which may occur:
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.
NF1 may not affect the way you look. However, some people with NF1 experience one or more symptoms which affect their appearance:
Karen's skin condition caused her a tough time at school and university. But moving to Australia in her twenties changed her outlook on life.
Read Karen's storyYes, 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.
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.
There is no cure for NF1. However, various treatments are available to reduce and control symptoms or treat secondary conditions.
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.
Neurofibromatosis type 2 (NF2) is less common than NF1. In NF2, tumours mainly develop along the nerves responsible for hearing and balance, causing hearing loss, tinnitus and balance problems.
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.
Schwannomatosis causes tumours to grow on the coverings of peripheral nerves throughout the body. Symptoms may include intense pain, numbness, tingling and weakness as well as headaches and changes to the vision. It is less common than NF1.
In some cases, it affects the appearance. Lumps or swollen areas may occur where tumours are. Facial paralysis can also occur, which may lead to a crooked smile, inability to close the eye on the affected side or full paralysis of one side of the face. It can also cause uncontrollable muscle spasms.
You can read more about NF2 and schwannomatosis on the NHS and Nerve Tumours UK websites:
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 freckles 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.
[At school] I was regularly subjected to comments and nasty questions which made me feel incredibly uncomfortable. I would hide away at breaks, walk with my head down and I hated having photos taken of me.
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.
Guidance, support and advice is also available from other organisations. Please follow the links to their websites to learn more.
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.
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.
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 will also find out what treatments are available on the NHS and how to seek help.