Evidence base: Neurofibromatosis

Keep up to date with the latest evidence in the management of neurofibromatosis.

Cafe au lait skin spot in neurofibromatosis (Photograph: SPL)
Cafe au lait skin spot in neurofibromatosis (Photograph: SPL)


A number of trials are underway and actively recruiting to establish novel therapeutic strategies for NF1 and NF2.

  1. Pilot study of imatinib mesylate (STI-571, NSC 716051) in neurofibromatosis (NF1) patient with plexiform neurofibromas - Indiana University.
  2. This is a trial to use the tyrosine kinase inhibitor imatinib in the treatment of plexiform neurofibromas in NF1.
  3. Imatinib is an oral preparation best known for the treatment of chronic myeloid leukaemia.
  4. AZD2171 in treating patients with neurofibromatosis type-1 and plexiform neurofibroma and/or neurofibroma near the spine - Mayo Clinic.
  5. Angiogenesis inhibitors, which are used to treat metastatic colon cancer and diabetic retinopathy, are being evaluated in the treatment of plexiform neurofibromas in NF1 and in vestibular schwannomas in NF2.
Assessment of the efficacy and safety of drugs to treat the cognitive and behavioural symptoms of NF is also ongoing.


To date there are no formal NICE or SIGN guidelines on the management of neurofibromatosis.

These review papers provide guidance on the diagnosis and management of suspected neurofibromatosis:

  • Ferner RE, Huson SM, Thomas N et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007; 44(2): 81-8.

This paper contains a series of useful tables concerning diagnostic criteria and assessment of children with NF1.

This sets out the diagnostic criteria and recommended management of NF2 in a clear and concise manner.


  • NHS Evidence - An excellent summary of NF1 diagnosis and management with clinical scenarios and useful links. 
  • Neurofibromatosis Association - The UK's leading authority on NF. The website contains invaluable information, practical advice and links to a network of UK advisors on NF for professionals and families.
  • Children's Tumour Foundation - This is a link to a series of podcasts covering topics including behavioural difficulties, pain management, dermal neurofibromas and future directions of research.

Contributed by Dr Rachael Morris-Jones, a consultant dermatologist and Dr Marie-Louise Daly, a clinical fellow in dermatology, King's College Hospital, London.

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