Last reviewed: 10 Apr 2021
Last updated: 21 Nov 2018



History and exam

Key diagnostic factors

  • family history of NF1
  • pain, any location
  • neurological deficits: gross motor delay, general incoordination, school performance problems
  • compromised vision
  • compromised social interactions
  • skin: café au lait spots, axillary freckling, cutaneous juvenile xanthogranulomas, neurofibromas
  • head and neck: unilateral diffuse plexiform neurofibroma divisions of the trigeminal nerve
  • ophthalmological: visual compromise, optic disc pallor, iris Lisch nodules
  • central nervous system: signs of hydrocephalus, brain tumours, and/or cerebellar abnormalities
  • peripheral nervous system: palpable mass about neck, brachial plexuses, groin, Hunter's canal, or the popliteal fossae
  • skeletal: tibial dysplasia or pseudarthrosis, sphenoid wing dysplasia, pectus excavatum or carinatum, genu valgum or varum, ankle valgus, pes planus
  • gastrointestinal: severe constipation, obstipation, abdominal pain, gastrointestinal bleeding
  • vascular: neurological problems, abdominal pain (and/or haemorrhage)
  • autism spectrum disorder
  • vascular: hypertension

Risk factors

  • parent with NF1
  • severe crush trauma

Diagnostic investigations

1st investigations to order

  • MRI and/or CT scans
  • PET scan
  • biopsy
  • genetic testing to confirm NF1 mutation

Treatment algorithm


Professor of Medical Genetics and Cancer Epidemiology

Genomic Medicine

School of Medicine

University of Manchester




DGE is an author of several studies referenced in this monograph. He has also received a one-off consultancy fee from AstraZeneca.

Professor D. Gareth Evans would like to gratefully acknowledge Dr Vincent M. Riccardi, a previous contributor to this monograph. VMR is an author of several studies referenced in this monograph.

Peer reviewersVIEW ALL


Department of Genetics

University of Alabama at Birmingham




BRK declares that he has no competing interests.

Consultant in Clinical Genetics

Department of Medical Genetics

Belfast HSC Trust




PM declares that he has no competing interests.

Clinical Senior Lecturer and Honorary Consultant in Medical Genetics

Institute of Medical Genetics

Yorkhill Hospital

University of Glasgow




EST declares that he has no competing interests.

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