Management
- An annual review by GP for complications of the condition and for management advice (eg referral to plastic surgeon) should be undertaken.
- Be aware that:
- Neurofibromas can cause cosmetic problems and wrap around or penetrate the nerves causing pain.
- There is about a 5% increase in risk for various cancers, including brain tumour. Sometimes plexiform neurofibromas and, very rarely, simple neurofibromas can become malignant.
- Hypertension is more common in NF1 patients than in the general population. At least annual blood pressure should be undertaken on all individuals with this condition. If hypertension is identified, then investigations for a secondary cause such as renal artery stenosis and phaeochromocytoma should be undertaken.
- There is also an increased rate of scoliosis in NF1. This should be looked for and there should be a low threshold for referral to an orthopaedic surgeon for investigation and management. As with scoliosis in other conditions, it most commonly presents and progresses around the time of puberty.
- Areas of surveillance should include:
- Ophthalmology for optic gliomas; growth of these is rare over 10 years of age.
- Education, as specific learning disabilities in reading, spelling or mathematics may be present. Children also may have short attention span, low muscle tone, reduced co-ordination and emotional immaturity.
- Monitoring of any rapid changes in the growth or symptoms of a neurofibroma.