Skip to main content

Health condition · Clinically reviewed

Neurofibromatosis type 1, a genetic condition managed with lifelong surveillance.

NF1 affects the skin, nerves, bones and eyes in varying combinations. There is no cure, but a specialist team and regular review keep complications caught early.

Jump to treatment
A radiographer guides a patient onto the bed of an advanced 3 Tesla MRI scanner in a London imaging suite

Why trust this guide

  • 01

    Clinically reviewed

    Written by our editorial team and reviewed by a registered UK clinician before publication.

  • 02

    Sourced from guidance

    Checked against NHS England commissioning criteria, NICE and peer-reviewed sources you can see at the end.

  • 03

    Current for 2026

    Reflects modern UK guidance including selumetinib for plexiform neurofibromas and specialist NF1 clinic pathways.

Key facts

NF1 at a glance.

The essentials, in plain English - what it is, how it's inherited, and how it's managed in the UK today.

  • What it is

    An autosomal dominant genetic condition caused by an NF1 gene mutation, causing tumours to grow along nerves and affecting skin, bone, eyes and the nervous system.

  • How common

    Affects roughly 1 in 2500 to 3000 people - one of the more common single-gene disorders.

  • Inheritance

    Autosomal dominant with a 50% chance of passing it on, but around half of cases arise from a new spontaneous mutation.

  • Earliest sign

    Cafe-au-lait spots - flat, light brown patches - are usually the first feature, often present from infancy.

  • Not a single tumour

    Neurofibromas, Lisch nodules and optic pathway gliomas can all occur - each behaves differently and needs its own monitoring.

  • Lifelong care

    There is no cure - management is lifelong surveillance and a multidisciplinary team, not a one-off treatment.

Why this guide matters

A condition managed, not cured.

NF1 varies enormously between individuals - even within the same family. The three points below shape how care is planned.

  • No two cases look alike

    Some people have only skin features, others have significant nerve, bone or vision involvement - care is always individualised.

  • Surveillance is the treatment

    Annual review catches changes early - most complications are manageable when caught in good time.

  • Specialist services exist for this

    NHS England commissions designated complex NF1 centres precisely because this condition needs coordinated, lifelong expertise.

How the diagnosis is made

From first spots to specialist care.

The steps a UK GP, paediatrician or specialist clinic will normally follow, in order - so you know what to expect and why.

  1. 01

    Assessing

    Clinical history and examination

    A skin, growth and developmental review looking for cafe-au-lait spots, neurofibromas and freckling patterns.

  2. 02

    Assessing

    NIH diagnostic criteria applied

    Diagnosis is clinical - two or more of: cafe-au-lait spots, neurofibromas, axillary/inguinal freckling, optic glioma, Lisch nodules, a bone lesion, or an affected first-degree relative.

  3. 03

    Confirming

    Ophthalmology assessment

    A slit-lamp exam looks for Lisch nodules on the iris and screens for optic pathway glioma affecting vision.

  4. 04

    Confirming

    MRI when indicated

    Used for suspected plexiform neurofibromas or optic pathway glioma, or to assess extent before treatment decisions.

  5. 05

    Confirming

    Genetic testing for confirmation

    NF1 gene sequencing confirms the diagnosis where clinical criteria are borderline, or before family planning.

  6. 06

    Preparing

    Developmental and educational review

    Screening for learning difficulties and ADHD, which are common and benefit from early support.

  7. 07

    Preparing

    Referral to a specialist NF1 clinic

    NHS England designated complex NF1 services coordinate lifelong multidisciplinary care.

Typical timeline: clinical diagnosis in a single visit, specialist clinic set-up over following weeks.

Symptoms

What NF1 actually looks like.

A varied mix of skin, eye, nerve and bone features. And the change that means it's time to escalate.

  • Cafe-au-lait spots

    Flat, light brown patches - usually the earliest sign, with multiple spots typically present by childhood.

  • Cutaneous and plexiform neurofibromas

    Benign tumours growing along nerves, on or under the skin - see our dedicated neurofibroma guide for detail.

  • Lisch nodules

    Small, benign hamartomas on the iris, visible on slit-lamp examination and part of the diagnostic criteria.

  • Axillary and inguinal freckling

    Freckle-like spots in the armpits or groin - a distinctive feature not seen in the general population.

  • Optic pathway glioma

    A tumour of the visual pathway that can affect vision, most often detected in early childhood on screening.

  • Learning difficulties and ADHD

    Common in NF1, even without other neurological complications - early educational support helps.

  • Bone abnormalities

    Scoliosis, tibial dysplasia, macrocephaly and short stature can all occur and need monitoring.

  • Red flag - malignant change

    Rapid growth, new pain or neurological change in a neurofibroma needs urgent specialist assessment for malignant peripheral nerve sheath tumour.

Treatment

How NF1 is managed in the UK.

Lifelong surveillance and a multidisciplinary team come first, with targeted treatment for specific complications when they arise.

  • Annual clinical review

    Lifelong surveillance for new or changing features - skin, growth, vision, bones and learning needs are all checked.

  • Ophthalmology monitoring

    Regular eye checks watch for Lisch nodules and optic pathway glioma, particularly through childhood.

  • MEK inhibitor - selumetinib

    For symptomatic, inoperable plexiform neurofibromas - can shrink tumours and improve pain, function and appearance.

  • Surgery for problematic neurofibromas

    Considered when a neurofibroma causes pain, disfigurement, nerve compression or functional loss.

  • Scoliosis and bone monitoring

    Regular assessment for scoliosis and tibial dysplasia, with orthopaedic input when curvature or bowing progresses.

  • Educational and neuropsychology support

    Structured input for learning difficulties and ADHD, tailored to the individual’s needs.

  • Blood pressure monitoring

    Regular checks for hypertension, which occurs more often in NF1 and can have a treatable underlying cause.

  • Genetic counselling

    Discusses inheritance risk, family planning options and testing for relatives considering pregnancy.

What this guide is based on

The sources behind every claim on this page.

UK national commissioning guidance and specialist consensus criteria, current at the time of last review.

Key references

Guidelines and standards we relied on.

A quiet reminder

This guide is for information, not medical advice.

Your GP or specialist NF1 team knows your history and can tell you which parts apply to you. If in doubt, get seen.

  • NHS England. Service specification for complex neurofibromatosis type 1 (NF1).

  • NICE. Selumetinib for treating plexiform neurofibromas in neurofibromatosis type 1 (TA906).

  • National Institutes of Health (NIH). Consensus diagnostic criteria for neurofibromatosis type 1.

  • European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS). NF1 clinical management guidance.

Red flags

When NF1 needs urgent attention.

Most NF1 is stable between reviews. These are the situations that aren't - and where a specialist opinion is needed without delay.

  • Rapid tumour growth or new pain

    Sudden growth, pain or a hardening neurofibroma may signal malignant peripheral nerve sheath tumour and needs urgent review.

  • Sudden visual change

    New vision loss, squint or proptosis in a child with NF1 warrants urgent ophthalmology and neuro-imaging.

  • Progressive scoliosis

    Rapidly worsening spinal curvature needs prompt orthopaedic assessment before it becomes harder to correct.

  • New neurological deficit

    Weakness, numbness or loss of function suggests nerve compression from a growing neurofibroma.

  • Severe headache or raised pressure signs

    Persistent headache, vomiting or altered consciousness can indicate an optic pathway glioma affecting intracranial pressure.

  • Uncontrolled or new hypertension

    Can reflect an underlying cause such as renal artery stenosis or phaeochromocytoma and needs specialist work-up.

  • Pregnancy in a woman with NF1

    Neurofibromas can grow during pregnancy and blood pressure needs closer monitoring - plan care with a specialist team.

  • Marked developmental concern

    Significant delay or regression beyond typical NF1-associated learning difficulty needs its own assessment.

Living with it

A lifelong condition, with a clear care plan.

Four things that make the biggest difference over the years - regular review, early support, family planning ahead of time, and knowing your own warning signs.

A quiet reminder

Most people with NF1 live full, healthy lives.

The condition varies widely - many people have mild features and need little beyond routine review.

  1. 01 Monitor

    Keep annual reviews

    Yearly specialist review catches change early - skin, eyes, growth and bones all move slowly until they don’t.

  2. 02 Support

    Ask about educational help early

    Learning difficulties and ADHD are common and very manageable with the right support in place from school age.

  3. 03 Plan

    Discuss family planning ahead

    Genetic counselling before pregnancy helps you understand inheritance risk and testing options in good time.

  4. 04 Watch

    Know your own red flags

    Learn what a changing neurofibroma feels like for you, so new pain or rapid growth gets checked without delay.

Frequently asked

Everything we get asked about NF1.

Quick answers on diagnosis, inheritance, neurofibromas and treatment.

  • What is neurofibromatosis type 1?

    An autosomal dominant genetic condition caused by a mutation in the NF1 gene. It causes tumours called neurofibromas to grow along nerves, along with skin, eye, bone and sometimes learning features. It affects roughly 1 in 2500 to 3000 people.

  • Is NF1 always inherited from a parent?

    No - about half of cases are new mutations with no family history. When it is inherited, it follows an autosomal dominant pattern, meaning an affected parent has a 50% chance of passing it to each child.

  • How is NF1 diagnosed?

    Mainly through clinical assessment against the NIH diagnostic criteria, needing two or more of: cafe-au-lait spots, neurofibromas, freckling, optic glioma, Lisch nodules, a bone lesion or a family history. Genetic testing can confirm the diagnosis.

  • Are neurofibromas dangerous?

    Most are benign and simply monitored. A small proportion, particularly larger plexiform neurofibromas, carry a small increased risk of transforming into a malignant peripheral nerve sheath tumour, which is why rapid growth or new pain needs urgent assessment.

  • What is selumetinib and who is it for?

    Selumetinib is a MEK inhibitor licensed for symptomatic, inoperable plexiform neurofibromas. It can shrink these tumours and ease pain and functional problems, and is prescribed through specialist NF1 services.

  • Does NF1 affect learning and development?

    Learning difficulties and ADHD are common in NF1, even in children without other complications. Early developmental assessment and educational support make a real difference to outcomes.

Related content

Keep reading.

Pulse Healthcare concierge

Send us your enquiry

A concierge service for UK private healthcare. We match you with the best vetted clinics and consultants in our network - they then contact you directly.

So we can match you to the right clinician close to you.

We reply to every enquiry within 24 hours (Mon–Fri). Confidential - your details are never shared outside our vetted consultant network.