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Type 1 neurofibromatosis

Última revisão: 14 Jul 2025
Última atualização: 07 Jun 2022

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • family history of NF1
  • pain, any location
  • neurologic 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
  • ophthalmologic: visual compromise, optic disk pallor, iris Lisch nodules
  • central nervous system: signs of hydrocephalus, brain tumors, and/or cerebellar abnormalities
  • peripheral nervous system: palpable mass about neck, brachial plexuses, groin, Hunter 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: neurologic problems, abdominal pain (and/or hemorrhage)
  • autism spectrum disorder
  • vascular: hypertension
Detalhes completos

Fatores de risco

  • parent with NF1
  • severe crush trauma
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

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

Algoritmo de tratamento

AGUDA

pheochromocytoma

malignant peripheral nerve sheath tumor

CONTÍNUA

neurofibromas: noncutaneous

cutaneous

headache

nervous system

eye

oral

skeletal

vascular

gastrointestinal

hematopoietic

psychological

pregnancy-related

Colaboradores

Autores

D. Gareth Evans, MD, FRCP

Professor of Medical Genetics and Cancer Epidemiology

Genomic Medicine

School of Medicine

University of Manchester

Manchester

UK

Declarações

DGE is an author of several studies referenced in this topic. He receives consultancies from Astrazeneca, Springworks, and Recursion. These may impact on recommendations for MEKi treatment.

Agradecimentos

Professor D. Gareth Evans would like to gratefully acknowledge Dr Vincent M. Riccardi, a previous contributor to this topic.

Declarações

VMR is an author of several studies referenced in this topic.

Revisores

Bruce R. Korf, MD, PhD

Professor

Department of Genetics

University of Alabama at Birmingham

Birmingham

AL

Declarações

BRK declares that he has no competing interests.

Patrick Morrison, MD

Consultant in Clinical Genetics

Department of Medical Genetics

Belfast HSC Trust

Belfast

UK

Declarações

PM declares that he has no competing interests.

Edward S. Tobias, BSc (Hons), MBChB, MRCP (UK), PhD

Clinical Senior Lecturer and Honorary Consultant in Medical Genetics

Institute of Medical Genetics

Yorkhill Hospital

University of Glasgow

Scotland

UK

Declarações

EST declares that he has no competing interests.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

Riccardi VM. Neurofibromatosis: phenotype, natural history and pathogenesis. 2nd ed. Baltimore, MD: Johns Hopkins University Press; 1992.

National Institutes of Health consensus development conference statement. Bethesda, MD, July 13-15, 1987. Neurofibromatosis. 1988;1(3):172-8.Texto completo  Resumo

Mulvihill JJ, Parry DM, Sherman JL, et al. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): an update. Ann Intern Med. 1990 Jul 1;113(1):39-52. Resumo

Riccardi VM. Neurofibromatosis: phenotype, natural history and pathogenesis. 2nd ed. Baltimore, MD: Johns Hopkins University Press; 1992.

Rodrigues LO, Batista PB, Goloni-Bertollo EM, et al. Neurofibromatoses: part 1 - diagnosis and differential diagnosis. Arq Neuropsiquiatr. 2014 Mar;72(3):241-50. Resumo

Riccardi VM. Neurofibromatosis: phenotype, natural history and pathogenesis. 2nd ed. Baltimore, MD: Johns Hopkins University Press; 1992.

Messiaen LM, Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000;15(6):541-55. Resumo

Listernick R, Ferner RE, Liu GT, et al. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol. 2007 Mar;61(3):189-98. Resumo

Lammert M, Friedman JM, Kluwe L, et al. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol. 2005;141:71-4.Texto completo  Resumo

Evans DG, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002 May;39(5):311-4. Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
  • Type 1 neurofibromatosis images
  • Diagnósticos diferenciais

    • Neurofibromatosis type 2 (NF2)
    • McCune-Albright syndrome
    • Familial café au lait spots
    Mais Diagnósticos diferenciais
  • Diretrizes

    • Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
    • Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
    Mais Diretrizes
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