Neurofibromatosis type 1 (NF1) and the skin
Information on skin in Neurofibromatosis type 1 (NF1) by Dr Sheelagh Harwell, GP
What is Neurofibromatosis type 1 (NF1)?
NF1 is one of the most common inherited disorders, affecting approximately 1 in 2,500 people. The symptoms range from mild to severe and can vary from person to person. Due to a change in the NF1 gene, there is a lack of regulation in the cells, predisposing people to benign and malignant tumours, mainly of the nerve endings. This condition is autosomal dominant - meaning that it can be passed from parent to child. 50% of cases are ‘sporadic’ - meaning a baby can be born with NF1 in a family without NF1 in any other family members.
Skin changes in NF1
Approximately 97% of those with NF1 will have 6 or more café au lait spots. These are flat, uniform,1-3cm, with well-defined borders in NF1. However, they may be smaller or much larger, lighter or darker, or irregular. They can occur anywhere apart from the palms and soles. They are rarely visible at birth and usually appear in early childhood, when they can grow in number and size. In adulthood, they usually remain stable. These are usually the first findings in young children, and GPs should consider early referral if there are more than 6 café au lait spots. If there are less than 6, then other conditions may be considered.
L-R café au lait spots and neck freckling. Images courtesy of Dr Sheelagh Harwell & The Childhood Tumour Trust.
What can you do?
Wear sunscreen
People with NF1 have a moderately increased risk of melanoma (not as high as the risk of other cancers in NF1). Protection from the sun is recommended.
Monitor & report
Report any new skin lumps or bumps to your GP – a referral to a plastic or dermatological surgeon is often helpful.
Yearly GP reviews
Adults with NF1 should be reviewed yearly by their GP, who will take a blood pressure, a history and perform a skin examination. Children should be looked after by a paediatrician.
Urgent referrals
An urgent referral to an expert in NF1 is required for any subcutaneous or plexiform neurofibromas which:
- Are persistently painful for over a month or cause night time pain
- Change from soft to hard
- Rapidly enlarge
- Affect function
There are two national highly specialised NHS services for NF1:
- Guy’s and St Thomas NHS Foundation Trust, London Neurofibromatosis - Overview | Guy's and St Thomas' NHS Foundation Trust
- Manchester Centre for Genomic Medicine at St Mary’s Hospital, Manchester Neurofibromatosis Type 1 | Manchester Centre for Genomic Medicine
Support
The cosmetic problems caused by neurofibromas, and the complex, variable and unpredictable nature of the disease can cause distress. Please remember you are not alone. There are 3 charities in the UK that provide support and advice for people with NF1.
- Nerve Tumours UK nervetumours.org.uk – this charity has a national helpline operated by Specialist Nurses, available to both patients and the medical profession. Telephone 07939 046 030 on Monday, Wednesday & Friday from 9am to 5pm.
- The Childhood Tumour Trust Childhood Tumour Trust – Supporting children and families affected by NF1 – supports children, young adults and their families up to the age of 30.
- Tumour Support Scotland Tumour Support Scotland | Supporting Children, Young People and Families Affected by Neurofibromatosis in Scotland.
Find your nearest clinic
Use our interactive map to find private dermatologists and clinics in the UK & ROI nearest to where you live.
