Summary
Definition
History and exam
Key diagnostic factors
- história familiar de NF1
- dor, qualquer local
- déficits neurológicos: atraso motor macroscópico, falta de coordenação geral, problemas de desempenho escolar
- comprometimento visual
- comprometimento das interações sociais
- pele: manchas café-com-leite, sardas axilares, xantogranulomas juvenis cutâneos, neurofibromas
- cabeça e pescoço: divisões do nervo trigêmeo com neurofibroma plexiforme difuso unilateral
- oftalmológicos: comprometimento da visão, palidez do disco óptico, nódulos de Lisch na íris
- sistema nervoso central: sinais de hidrocefalia, tumores cerebrais e/ou anomalias cerebelares
- sistema nervoso periférico: massa palpável no pescoço, plexos braquiais, virilha, canal de Hunter ou fossas poplíteas
- esqueléticos: displasia tibial ou pseudoartrose, displasia da asa do esfenoide, pectus excavatum ou carinatum, geno varo ou valgo, tornozelo valgo, pés planos
- gastrointestinais: constipação grave, obstipação, dor abdominal, sangramento gastrointestinal
- vasculares: problemas neurológicos, dor abdominal (e/ou hemorragia)
- transtorno do espectro autista
- vasculares: hipertensão
Risk factors
- genitor com neurofibromatose do tipo 1 (NF1)
- trauma grave por esmagamento
Diagnostic investigations
1st investigations to order
- ressonância nuclear magnética (RNM) e/ou tomografias computadorizadas (TCs)
- tomografia por emissão de pósitrons (PET)
- biópsia
- teste genético para confirmar a mutação da neurofibromatose do tipo 1 (NF1)
Treatment algorithm
feocromocitoma
tumor maligno da bainha dos nervos periféricos
neurofibromas: não-cutâneos
cutânea
cefaleia
sistema nervoso
olho
oral
esquelético
vascular
gastrointestinal
hematopoiético
psicológico
relacionado à gestação
Contributors
Authors
D. Gareth Evans, MD, FRCP
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 topic. He receives consultancies from Astrazeneca, Springworks, and Recursion. These may impact on recommendations for MEKi treatment.
Acknowledgements
Professor D. Gareth Evans would like to gratefully acknowledge Dr Vincent M. Riccardi, a previous contributor to this topic.
Disclosures
VMR is an author of several studies referenced in this topic.
Peer reviewers
Bruce R. Korf, MD, PhD
Professor
Department of Genetics
University of Alabama at Birmingham
Birmingham
AL
Disclosures
BRK declares that he has no competing interests.
Patrick Morrison, MD
Consultant in Clinical Genetics
Department of Medical Genetics
Belfast HSC Trust
Belfast
UK
Disclosures
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
Disclosures
EST declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
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.Full text Abstract
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. Abstract
Rodrigues LO, Batista PB, Goloni-Bertollo EM, et al. Neurofibromatoses: part 1 - diagnosis and differential diagnosis. Arq Neuropsiquiatr. 2014 Mar;72(3):241-50. Abstract
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. Abstract
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. Abstract
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.Full text Abstract
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. Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Neurofibromatose do tipo 2 (NF2)
- Síndrome de McCune-Albright
- Manchas café-com-leite familiares
More DifferentialsGuidelines
- Selumetinib for treating symptomatic and inoperable plexiform neurofibromas associated with type 1 neurofibromatosis in children aged 3 and over
- Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
More Guidelines
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