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Type 1 neurofibromatosis

最后审阅: 13 Feb 2025
最后更新: 07 Jun 2022

小结

定义

病史和体格检查

关键诊断因素

  • 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
完整详情

危险因素

  • parent with NF1
  • severe crush trauma
完整详情

诊断性检查

首要检查

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

治疗流程

急症处理

pheochromocytoma

malignant peripheral nerve sheath tumor

持续性治疗

neurofibromas: noncutaneous

cutaneous

headache

nervous system

eye

oral

skeletal

vascular

gastrointestinal

hematopoietic

psychological

pregnancy-related

撰稿人

作者

D. Gareth Evans, MD, FRCP

Professor of Medical Genetics and Cancer Epidemiology

Genomic Medicine

School of Medicine

University of Manchester

Manchester

UK

利益声明

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.

鸣谢

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

利益声明

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

同行评议者

Bruce R. Korf, MD, PhD

Professor

Department of Genetics

University of Alabama at Birmingham

Birmingham

AL

利益声明

BRK declares that he has no competing interests.

Patrick Morrison, MD

Consultant in Clinical Genetics

Department of Medical Genetics

Belfast HSC Trust

Belfast

UK

利益声明

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

利益声明

EST declares that he has no competing interests.

  • Type 1 neurofibromatosis images
  • 鉴别诊断

    • Neurofibromatosis type 2 (NF2)
    • McCune-Albright syndrome
    • Familial café au lait spots
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  • 指南

    • 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
    更多 指南
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