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Clinical criteria for neurofibromatosis type 1 (NF1)

The NIH diagnostic criteria for NF1 are met in an individual who has two or more of the following features:

  • six or more café-au-lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals
  • two or more neurofibromas of any type or one plexiform neurofibroma
  • freckling in the axillary or inguinal regions
  • optic glioma 
  • two or more Lisch nodules
  • a distinctive osseous lesion such as sphenoid dysplasia or tibial pseudoarthrosis
  • a first-degree relative with NF1 as defined by the above criteria.

Almost all individuals with NF1 will fulfil clinical criteria for the diagnosis by age 8 years.

Around half of children with NF1 who do not have a known family history of NF1 will fulfil clinical diagnostic criteria by age one year.

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Version 2

Date Summary of changes
31/05/2017

Transferred to new eviQ website. Version change to V.2.

Previous website ID: 355
22/03/2019 Document reviewed in line with NF1 GT and RM protocols at Nov 2018 RCM. Approved for publication with nil changes.
12/06/2019 Review dates changed to align with changes to GT and RM protocol. Now due for review 22 Mar 2020.
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Bibliography

Ferner, R. E. and D. H. Gutmann. 2013. "Neurofibromatosis type 1 (NF1): diagnosis and management." Handb Clin Neurol 115:939-955.

Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a predisposition to benign and malignant tumor formation and the hallmark lesion is the neurofibroma, a benign peripheral nerve sheath tumor. The gene for NF1 was cloned on chromosome 17q11.2 and neurofibromin, the NF1 protein, controls cell growth and proliferation by regulating the proto-oncogene Ras and cyclic adenosine monophosphate (AMP). Advances in molecular biology and mouse models of disease have enhanced our understanding of the pathogenesis of NF1 complications and facilitated targeted therapy. Progress has been made in developing robust clinical and radiological outcome measures and clinical trials are underway for children with learning difficulties and for individuals with symptomatic plexiform neurofibromas.

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https://www.eviq.org.au/p/3187

01 Mar 2021