Neurofibromatosis

Also called NF1, NF2, Von Recklinghausen disease

Genetic conditions causing tumours to grow on nerves. NF1 is common, variable, and needs lifelong monitoring.

What it is

Neurofibromatosis type 1 affects around 1 in 2,500 people, which makes it commoner than cystic fibrosis and Duchenne muscular dystrophy combined, and far less well known.

It causes benign tumours to grow along nerves, plus a set of other features: skin patches, learning and attention differences, bone abnormalities, and a raised risk of certain cancers.

Around half of cases are inherited and half are new mutations, so a family with no history can still have an affected child.

NF2 is much rarer and different: it causes tumours on the hearing and balance nerves, and progressive deafness is the defining feature.

Signs you might notice

In NF1: six or more café-au-lait patches, flat light-brown marks on the skin.

Freckling in the armpits and groin.

Neurofibromas: soft lumps on or under the skin, usually appearing from adolescence and increasing over time.

Learning difficulties in around half, and ADHD in a substantial proportion.

Scoliosis, bowing of the lower leg, and short stature.

In NF2: hearing loss, tinnitus and balance problems, usually starting in the late teens or twenties.

How it can affect day-to-day life

The visible neurofibromas cause significant distress in adolescence and adulthood, and that distress is regularly dismissed as cosmetic.

The learning and attention side is the aspect most often unaddressed. Children with NF1 have measurably higher rates of learning difficulty and attention problems, and support for those needs makes more difference day to day than any tumour does.

Monitoring matters: annual review, blood pressure checks because of a specific risk of hypertension, eye checks in childhood, and vigilance for any neurofibroma that becomes painful, hard or rapidly growing, which can indicate malignant change.

Supporting someone well

Attend the annual review and get blood pressure checked at every opportunity.

Report any lump that becomes painful, firm or grows quickly. This is the sign that matters most.

Address the learning and attention needs at school explicitly rather than attributing everything to the physical condition. Our neurodiversity and SEND pre-screening covers cognition, attention and sensory needs together, which fits NF1 well.

Take the psychological impact of visible differences seriously.

Ask for genetic counselling for the family.

For NF2, plan for progressive hearing loss early: communication support, and consider learning sign language before it is needed.

Where to get help

Ask for referral to a specialist NF clinic. England has designated NF2 services and specialist NF1 clinics.

Nerve Tumours UK run a helpline and have specialist support workers.

New or worsening pain in a neurofibroma needs urgent assessment.