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
危险因素
- parent with NF1
- severe crush trauma
诊断性检查
首要检查
- MRI and/or CT scans
- PET scan
- biopsy
- genetic testing to confirm NF1 mutation
治疗流程
pheochromocytoma
malignant peripheral nerve sheath tumor
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.
鉴别诊断
- Neurofibromatosis type 2 (NF2)
- McCune-Albright syndrome
- Familial café au lait spots
更多 鉴别诊断指南
- 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
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