Neurofibromatosis
Type 1 neurofibromatosis NF-1
Autosomal dominant trait
Clinical features
Café-au-lait patches (flat, coffee-coloUred patches of skin seen in the first year of life, increasing in number and size with age)
Neurofibromas
Dermal neurofibromas
Nodularneurofibromas—subcutaneous, firm nodules arising from nerve trunks (may cause paraesthesia if compressed)
Freckling in axilla, groin, neck base, and submammary area (women).
Lisch nodules—nodules of the iris only visible with a slit lamp
Distinctive bony abnormality specific to NF1, e.g. sphenoid dysplasia
Management
Refer to Neurofibroma clinic
Surgical excision of neurofibromas
Blood pressure monitoring
Yearly opthalmological review
Ongoing evaluation for skeletal changes and abnormality
Complications
Mild learning disability
Short stature
Macrocephaly
Nerve root compression
GI bleeding or obstruction
Cystic bone lesion
Scoliosis
Neurofibromatosis 2- NF2
Much rarer than type 1. Auto- somal dominant inheritance.
Diagnosis One of:
Bilateral vestibular schwannoma (acoustic neuroma—sensorineural hearing loss, vertigo ± tinnitus)
First-degree relative with NF2 and either a unilateral vestibular schwannoma or ≥1 neurofibroma, meningioma, glioma, schwannoma, or juvenile cataract
Complications
Schwannomas of other cranial nerves dorsal nerve roots, or peripheral nerves
Meningioma
Glioma
NF-1
NF-2
