Neurofibromatosis (NF1 and NF2): Care Staff Guide to Signs and Support

Neurofibromatosis is a lifelong genetic condition in which growths form on nerves. Most care staff will meet it rarely, and because its signs are varied and often subtle, it can be missed or misunderstood. A person with neurofibromatosis might have skin changes, lumps, learning difficulties, vision problems or hearing loss, and their needs can change over time. This guide, based on NHS information, explains the two main types, NF1 and NF2, and how care staff can support people who have them.

NF1 and NF2: two different conditions

The NHS treats neurofibromatosis type 1 (NF1) and type 2 (NF2) as separate conditions. Both are caused by an altered gene, which can be passed on by a parent or can occur in a person whose parents do not have it. The NHS states that a person with either type has a 1 in 2 (50%) chance of passing the altered gene on to each child. Neither has a cure, but treatment and monitoring can help manage symptoms and complications.

Neurofibromatosis type 1

The NHS describes NF1 as a lifelong condition in which growths form on nerves and skin, and says it usually gets worse over time. How severe it is depends mainly on where the tumours are and how large they are. Signs include:

• Café-au-lait spots, light brown patches on the skin that may be harder to see on brown and black skin
• Freckling in the armpits or around the top of the legs
• Neurofibromas, lumps on or under the skin that can be painful or itchy and usually appear in the teenage years or early twenties
• Raised yellow-brown dots on the iris, which usually do not affect vision
• Eye problems, including squint and reduced vision
• Learning difficulties, and in some people a larger head with below-average height

Complications of NF1

The NHS lists several complications that care teams should be aware of: high blood pressure; bone and joint problems such as bowed legs or scoliosis; optic nerve tumours that cause vision problems; depression, anxiety and low self-esteem; a higher risk of some cancers, including breast and brain cancer; and possible effects on life expectancy. Pregnancy can carry additional risks, including high blood pressure and more or larger itchy tumours.

Neurofibromatosis type 2

The NHS describes NF2 as a rare genetic condition in which non-cancerous tumours grow on nerves in the brain, inner ear and spinal cord. Most people with NF2 develop slow-growing inner ear tumours, which can cause hearing loss, tinnitus and balance problems. Tumours on the spinal cord or the lining of the brain may cause no symptoms, or may cause headaches, nausea and vomiting, seizures, vision problems, facial weakness, numbness or tingling in the hands and feet, and skin lumps. Symptoms usually begin in the late teens or early twenties, although children can be affected, and in children eye problems such as squint or cataracts, skin lumps and foot drop are common.

Because hearing and balance are so often affected, our guide to hearing loss and hearing aid care is a useful companion. Staff should check that hearing aids or other devices are working and clean, reduce background noise, face the person when speaking and allow extra time.

Diagnosis

For NF1, the NHS says a GP refers the person to a specialist for tests such as eye tests, MRI scans of the brain, spine and abdomen, and genetic tests. For NF2, diagnosis may involve hearing tests, eye tests and CT or MRI scans, with input from audiologists, ophthalmologists and geneticists, and a genetic test is sometimes used. A genetic counsellor can explain the condition and the chance of passing it on, which is an emotional topic for many families, so staff should be sensitive and not offer personal opinions.

Treatment and regular monitoring

The NHS explains that treatment for NF1 may include medicine to slow tumour growth, surgery for tumours that risk causing problems, and radiotherapy for small tumours or remaining tumour tissue. If symptoms are not causing problems, doctors may simply monitor them. For NF2, options include hearing aids or cochlear implants, medicine that can slow or stop tumour growth and sometimes improve hearing, surgery to remove tumours that risk causing problems and radiotherapy for small tumours. The NHS notes that most people with NF2 need surgery at some point.

Regular check-ups matter. For NF1 the NHS recommends annual check-ups, with eyes checked yearly in children and every two years in adults, blood pressure checked yearly, and a yearly mammogram for women from the age of 40. Care staff can support people by keeping track of appointment dates, helping them attend and noticing changes between visits.

Symptoms that need prompt advice

The NHS advises seeking urgent advice from a GP or NHS 111 for persistent or worsening headaches, persistent sickness, or blurred vision or loss of vision. For children under five, call NHS 111. Sudden weakness, a seizure, severe headache with drowsiness or signs of a stroke are emergencies, so call 999. Our guide to brain tumours explains symptoms to watch for when tumours affect the brain.

Everyday support

• Appearance and self-esteem. Skin changes and lumps can affect confidence. Treat them matter-of-factly, respect privacy during personal care, and challenge unkind comments.
• Pain and itching. Neurofibromas can be sore or itchy. Report pain, rapid growth or changes so a clinician can look at them, and avoid friction from tight clothing or straps.
• Learning and communication. Some people have learning difficulties or attention problems. Use plain language, check understanding and give written or pictorial prompts.
• Vision and mobility. Support eye appointments, keep the environment well lit and uncluttered, and report any change in vision promptly.
• Mood. Because the NHS lists depression and anxiety as complications, notice withdrawal, worry or low mood and raise them with the GP. Our guide to depression screening in older adults explains how to recognise and respond to low mood.

Support organisations

The NHS signposts to Nerve Tumours UK, which offers information and a helpline (0300 102 17 22, open Mondays, Wednesdays and Fridays from 9am to 5pm), and to the Childhood Tumour Trust, which supports children, young adults up to age 30 and their families. Care teams share information with the National Congenital Anomaly and Rare Disease Registration Service for research, and people can opt out at any time.

Frequently asked questions

Is neurofibromatosis cancer?

No. The tumours in NF2 are described by the NHS as non-cancerous, and NF1 growths are mainly on nerves and skin. However, the NHS notes that people with NF1 have a higher risk of some cancers, so regular monitoring is important.

Is it inherited?

It can be. The NHS says the altered gene can be passed from a parent, with a 50% chance for each child, or can occur without a family history.

Can neurofibromatosis be cured?

There is no cure, but treatment and monitoring can manage symptoms and complications, according to the NHS.

Keep building your knowledge

Understanding rare conditions helps care teams respond with confidence and compassion. Explore the health and social care learning available through Learnsignal CPD to keep your knowledge up to date.

This article is general information for care staff, based on published NHS guidance, and does not replace the advice of a person's own clinicians.