Neurofibromatosis (NF)

Two types:
• NF-1 (vonRecklinghausen’s disease); up to 90% of NF; prevalence of 1/3000
• NF-2 (acoustic neurofibromatosis); prevalence of 1/50 000

Autosomal dominant; 50% of cases are new mutations; NF-1 gene is on chromosome 17.

Earliest sign is usually the café-au-lait spots/macules – sharply defined light brown patches – present at birth or in first year of life.
Peripheral neurofibromas usually develop during puberty and increase in size during early adult life

Diagnostic criteria (>2 of following) - >6 café-au-lait macules, >5mm in diameter; >2 neurofibromas; freckling in auxiliary region; optic glioma; osseous lesions; first degree relative with NF-1

30% have some form of intellectual impairment (3% severe)

Autosomal dominant – gene is on chromosome 22.
Bilateral acoustic neuromas are commonest manifestation.
Have less café-au-lait spots than NF-1.

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