Neurofibromatosis
| Incidental findings | |
| +ve signs | Multiple neurofibromas, ≥6 café au alait patches, axillary freckles, kyphoscloliosis, Lisch nodules |
| Differential diagnosis | |
| Function | |
| Tests |
Extensions
- Axilla for freckles
- Visual acuity, fundoscopy for optic nerve glioma
- Hearing for acoustic neuroma
- Would like to know blood pressure (renal artery stenosis)
Notes
- Complications: Malignant transformation, hypertension, spinal cord / nerve root compression
- Screening: Lisch nodules in 100% of patients >20 years
- Type 2 usually bilateral acoustic neuroma or unilateral acoustic with menigioma/neurofibroma/schwannoma
- Other features: lung cysts, retinal hamartomas, skeletal abnormalities, intellectual disability