Synopsis
Differentiate NF1, NF2-related schwannomatosis and tuberous sclerosis complex, recognise tumour and seizure emergencies, and organise lifelong multisystem genomic surveillance and targeted treatment.
- NF1 is an autosomal dominant RAS–MAPK tumour-predisposition disorder caused by pathogenic NF1 variants and characterised by café-au-lait macules, flexural freckling, neurofibromas and multisystem complications.
- Plexiform neurofibromas can cause disfigurement, pain and neurological compromise; new persistent pain, rapid growth, hard texture or deficit raises malignant peripheral nerve sheath tumour.
- NF2-related schwannomatosis typically causes bilateral vestibular schwannomas, meningiomas, ependymomas, peripheral nerve tumours and early cataracts rather than the cutaneous neurofibroma burden of NF1.
Key red flags
Rapid growth, unremitting night pain, hard change or neurological deficit in an NF1 tumour requires urgent assessment for malignant peripheral nerve sheath tumour.
Investigation priorities
Identify the characteristic, age-dependent features and inheritance pattern of NF1, NF2-related schwannomatosis or TSC.
Management branches
A child has multiple café-au-lait macules, flexural freckling or a parent with confirmed NF1.
- Document lesion number, size and distribution and examine skin, eyes, growth, development, spine, limbs, neurology and blood pressure.
- Refer to paediatrics or an NF/genetics service for clinical criteria review and genomic testing where it will clarify diagnosis or family planning.
Key medicines
VigabatrinFor infantile spasms associated with TSC, use the paediatric specialist weight-based regimen and rapid titration specified by NICE and the current product information; this is not an adult self-start medicine.
EverolimusUse a specialist-calculated oral dose for the licensed TSC indication, adjusted to drug concentration, body size, organ function, interacting medicines and treatment response.