Neurofibromatosis

Two types. 1 and 2
SPONTANEOUS and AUTOSOMAL DOMINANT

Type 1

von Recklinghausen's disease
Much more common than type 2 - accounts for 90% of cases

Autosomal dominant
Chromosome17
1 in 2500
M:F 1:1


Diagnosis

Cafe-au-lait spots
Neurofibromas
Freckling
Optic glioma
Lisch nodules (on iris)
Bone lesions
1st degree relative with NF1

Complications

Learning disability
Mass effect of neurofibromas

Nerve compression
Gut obstruction
Hypertension - renal artery stenosis
Malignancy
Epilepsy

MRI can show changes


Management: Treat annoying lesions only. Genetic counselling


Type 2 neurofibromas

Genetics

Autosomal dominant
Gene on chromosome 22

Epidemiology and aetiology
Much more rare than NF1: affects 1 in 35000 individuals

Diagnosis

Bilateral vestibular schwannoma
Relative and has unilateral vestibular schwannoma or neurofibroma, meningioma, glioma, schwannoma, juvenile cataract


Management

No cure
Annual hearing tests
Surgery to remove schwannomas