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Supporting children, young adults and their families up to the age of 30

Supporting children, young adults and their families up to the age of 30

Information for Health Care Professionals

Through our research, in partnership with the Patient Led Research Hub – University of Cambridge, we have found that many healthcare professionals struggle to access clear guidelines on Neurofibromatosis Type 1 (NF1), as there are currently no dedicated NICE guidelines. To address this gap, we aim to simplify the process of caring for individuals with NF1 by providing access to comprehensive resources, including the ERN Genturis guidelines. While these are European guidelines and some recommendations may differ in the UK, they represent the most thorough and reliable guidance currently available.

Diagnostic criteria for Neurofibromatosis Type 1 (NF1)

A diagnosis of NF1 can be given if an individual has two or more of the following manifestations:

A pathogenic NF1 gene variant**

**Additional Genetic Criteria Updates:
  • The term “mutation” is no longer accepted; pathogenic variant is now the preferred term.
  • Genetic analysis is not REQUIRED for diagnosis but may allow for an earlier diagnosis.
  • Genetic analysis ALONE is not sufficient to diagnose NF1 – diagnosis requires a second diagnostic feature of NF1.

A parent with NF1 based on diagnostic criteria

*At least one of the two pigmentary findings (café-au-lait macules or freckling) should be bilateral.

Glossary

Anterolateral bowing of tibia is a curving of a bone in the leg
Café-au-lait macules, also called café-au-lait spots, are flat darkened areas on the skin
Choroidal abnormalities are problems with the vascular layer of the eye (the choroid)
Dysplasia means abnormal growth
Lisch nodules are small tan or brown bumps on the surface of the iris in the eye
Neurofibroma is a tumor that forms on a nerve cell sheath
Osseous lesion is a problem with a bone that is not due to injury
Optic pathway glioma is a tumor of the visual pathway
Pseudarthrosis is a condition that occurs when the bones in the leg do not heal correctly
Sphenoid is a bone near the base of the cranium behind the eye

Body Map for Early Identification of Neurofibromatosis

At Childhood Tumour Trust, we’re proud to be championing the inclusion of a Body Map in the national Personal Child Health Record (commonly known as the Red Book). While it has not yet been adopted nationally, each NHS Trust can order their own version to be inserted at the time of printing—and CTT will cover the cost of the first set to help make this important addition accessible.

Why is a Body Map Important?

A Body Map provides a simple, clear way to record birthmarks and skin features—especially café-au-lait spots, which are one of the early signs of Neurofibromatosis Type 1 (NF1). It can also be useful for documenting Mongolian blue spots and in safeguarding contexts. By noting and monitoring these marks, healthcare professionals and parents can support earlier identification and timely referrals.

If your baby or child has any visible birthmarks or café-au-lait spots, we encourage you to download and print the Body Map below and add it to their Red Book. It could make all the difference in ensuring early support and diagnosis.

Download Body Map

Guidelines and checklists

Download the ERN NF1 Guidelines
Download the Plain Language Summary

NF1 Review checklists

These checklists for children and adults with NF1 are invaluable tools for tracking important wellness checks over time.

Download adult checklist   Download child checklist

GP guidelines

Download the GP Guidelines for children
Download the GP Guidelines for adults

Insert for the Red RCPCH Child Development Book

A concise guide tailored to include in the Royal College of Paediatrics and Child Health Red Book, this insert provides vital information for families and healthcare professionals tracking development milestones and care needs for children with NF1.

Read the book
Download and print the book
Order a printed copy

Specialist centres

Read about the UK specialist centres for NF1

Take a free CPD module to recognise NF1

Stay tuned for updates as we continue to expand this resource. Our goal is to empower healthcare professionals with the tools and knowledge to provide informed care.