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Neurofibromatosis type 1

What is neurofibromatosis type 1?

Neurofibromatosis type 1 (NF1) is a common genetic disorder. 1 in every 2500 babies born will have a faulty gene on chromosome 17, which results in NF1. It may be inherited from a parent or it may spontaneously occur.

Neurofibromatosis type 1 causes growths (neurofibromas) to form on nerves, and these growths may occur anywhere in or on the body. The effects of NF1 vary greatly, many people with NF1 are affected mildly, yet others have more significant medical difficulties.

Early signs of NF1 are:

  • brown birthmarks (also known as ‘cafe au lait spots’)
  • freckling in the armpit and groin
  • neurofibromas (growths) on or under the skin

NF1 affects both males and females equally.

NF1 also increases the likelihood of learning difficulties, attention deficit disorder and autism spectrum disorder. It is therefore important that your child’s school or college is aware of the diagnosis and the potential difficulties that may occur.

What does the medical team do?

If your child has been referred to the neurofibromatosis type 1 clinic, they either have had a NF1 diagnosis confirmed or your child will be reviewed and potential genetic tests will be requested to rule out or confirm this condition.
The NF1 clinic for children occurs at The Ryegate Children’s Centre 12 times a year. Also twice a year a NF1 specialist doctor visits Ryegate Children’s Centre to review more complex issues affecting children with NF1.

During the NF1 clinic appointment, you will receive expert care from doctors and nurses who know this condition well.

Your doctor will ask about your child’s health, this will include questions regarding their bone development, their vision and any concerns regarding skin growths or lumps. Your doctor will also ask about any pain, headaches, numbness and tingling your child is experiencing. We may request further investigations such as MRIs or X-rays. Your child’s blood pressure, pulse, height and weight will also be monitored.

The doctors will also answer any questions you may have.

The doctors you may see are:

  • Dr Bleakley
  • Dr Alladi
  • Dr Sharma
  • Dr Harrower

What does the NF specialist nurse do?

Our NF Specialist Nurse is Clare Dhillon. She can give you more information about NF1 and will aim to support you if you have any concerns. She can give you written information or direct you to online resources for you to read. She can also go through this information with you in the NF1 transition clinic. If you have any concerns with education, your NF1 nurse can support you and provide information for teachers. She may also be available for supportive home visits or to attend school meetings.

You can contact her on 0114 226 7999 where there is usually an answer machine for you to leave a message and she will get back to you as soon as possible. You can also email her: clare.dhillon1@nhs.net.

What does the genetic nurse do?

Your clinician may request genetic testing to confirm NF1, which requires a blood test. This will assist in the diagnostic process and these investigations might extend to the siblings and parents of the person who may have NF1.

If it is confirmed that your child has NF1, the genetic nurse will offer genetic counselling in the transition period into adulthood. This counselling will give you up to date information about NF1 and how it may occur in future generations.

You can contact the genetic nurse on 0114 271 7025

What does the ophthalmic team do?

It is very important that a child with NF1 has regular eye tests by an ophthalmologist. Lisch nodules (pigmented areas in the iris) may be seen, they are harmless but they can help with the diagnostic process. Your child’s vision will also be checked for sight issues, squints and optic nerve growths.

Further support and resources

Nerve Tumour UK – www.nervetumours.org.uk

07939 046 030 (National helpline is open Mondays and Wednesdays 9am to 5pm)

Nerve Tumour UK offers support for children, teenagers, parents, teachers and employers.

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Please note: this is a generic information sheet relating to care at Sheffield Children’s NHS FT. These details may not reflect treatment at other hospitals. This information is not intended as a substitute for professional medical care. Always follow your healthcare professionals’ instructions. If this resource relates to medicines, please read it alongside the medicine manufacturer’s patient information leaflet. If this information has been translated into another language from English, efforts have been made to maintain accuracy, but there may still be some translation errors. If you are unsure about any of the guidance in this resource or have specific questions about how it relates to your child, always ask your healthcare professional for further advice.

Resource number: NDS4

Resource Type: Article

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