Neurofibromatose do tipo 1
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
- oftalmológico: comprometimento visual, palidez do disco óptico, nódulos de Lisch na íris, anormalidades da coroide
- 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
- pai/mãe com neurofibromatose do tipo 1 (NF1)
Diagnostic investigations
1st investigations to order
- diagnóstico clínico
Investigations to consider
- teste genético para confirmar mutação da neurofibromatose do tipo 1
- ressonância nuclear magnética (RNM) e/ou tomografias computadorizadas (TCs)
- tomografia por emissão de pósitrons (PET)
- biópsia
Treatment algorithm
feocromocitoma
tumor maligno da bainha dos nervos periféricos ou neoplasia neurofibromatosa atípica de potencial biológico incerto
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 declares he has no conflicts of interest.
Acknowledgements
Professor D. Gareth Evans would like to gratefully acknowledge Dr Vincent M. Riccardi, a previous contributor to this topic, and Dr Grace R. Vassallo and Dr Helen Young who provided expert input on the management of type 1 neurofibromatosis.
Disclosures
VMR and HY declare that they have no competing interests. GRV has been reimbursed for providing advisory work to Alexion, sponsored by Alexion to attend conferences, and reimbursed for providing teaching for Alexion. She has also provided advisory work to Merck, and has provided paid interviews for Atheneum.
Peer reviewers
Laura Klesse, MD, PhD
Professor of Pediatrics and Neurological Surgery
UT Southwestern Medical Center Dallas
Dallas
TX
Disclosures
LK has taken part in medical advisory boards for SpringWorks and Alexion.
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
Miller DT, Freedenberg D, Schorry E, et al; Council on Genetics; American College of Medical Genetics and Genomics. Health supervision for children with neurofibromatosis type 1. Pediatrics. 2019 May;143(5):e20190660.Full text Abstract
Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021 Aug;23(8):1506-13.Full text Abstract
Carton C, Evans DG, Blanco I, et al. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. EClinicalMedicine. 2023 Jan 13;56:101818.Full text Abstract
Perrino MR, Das A, Scollon SR, et al. Update on pediatric cancer surveillance recommendations for patients with neurofibromatosis type 1, Noonan syndrome, CBL syndrome, Costello syndrome, and related RASopathies. Clin Cancer Res. 2024 Nov 1;30(21):4834-43.Full text 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
- Schwannomatose relacionada ao NF2 (NF2)
- Síndrome de McCune-Albright
- Manchas café-com-leite familiares
More DifferentialsGuidelines
- Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of neurofibromatosis type 1
- Update on pediatric cancer surveillance recommendations for patients with neurofibromatosis type 1, Noonan syndrome, CBL syndrome, Costello syndrome, and related RASopathies
More Guidelines
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