- a.k.a von Recklinghausen disease (NF-1)
- autosomal dominant
Criteria for diagnosis of NF-1 ( CALBORN ) - at least 2
C - Cafe au lait spot (6 or more, 5mm in < 10 years old, 15mm for >10 )
A- Axillary freckels
L - Lisch nodule
B - Bony lesion (eg: sphenoid dysplasia)
O - Optic glioma
R - Relative (first degree family history)
N - Neurofibroma
- mild learning disabilities are common
- incidence of seizure is 20 times that of normal population
- associated with phaeochromocytoma and syringomyelia
- NF-1 is due to mutation of neurofibromin (chromosome 17) - 90%
- NF-2 is due to mutation of merlin (chromosome 22) - 10%. Hallmark of NF-2 is hearing loss due to bilateral acoustic neuroma
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