Last reviewed: November 2017
Last updated: October  2017

Summary

Definition

History and exam

Key diagnostic factors

  • FHx 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
  • CNS: 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
  • GI: severe constipation, obstipation, abdominal pain, GI 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
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Professor of Medical Genetics and Cancer Epidemiology

Genomic Medicine

School of Medicine

University of Manchester

Manchester

UK

Disclosures

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 reviewers VIEW ALL

Professor

Department of Genetics

University of Alabama at Birmingham

Birmingham

AL

Disclosures

BRK declares that he has no competing interests.

Consultant in Clinical Genetics

Department of Medical Genetics

Belfast HSC Trust

Belfast

UK

Disclosures

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

Scotland

UK

Disclosures

EST declares that he has no competing interests.

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