All::Neurology::Diseases::Neurofibromatosis
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What is Neurofibromatosis?
a group of conditions in which tumors grow in the nervous system
NeurofibromatosisNF1
How common is Neurofibromatosis type I?
affects around 1 in 4,000
NeurofibromatosisWhat are the main clinical features of Neurofibromatosis type I?
- Café-au-lait spots (>= 6, 15 mm in diameter)
- Axillary/groin freckles
- Peripheral neurofibromas
- Iris hamatomas (Lisch nodules) in > 90%
- Scoliosis
- Pheochromocytomas
What is the cause of Neurofibromatosis type I?
a gene mutation on chromosome 17 which encodes neurofibromin
NeurofibromatosisNF2
How common is Neurofibromatosis type II?
1 in 100,000
NeurofibromatosisWhat are the main clinical features of Neurofibromatosis type II?
- Bilateral vestibular schwannomas
- Multiple intracranial schwannomas, mengiomas and ependymomas
What are the main causes of Neurofibromatosis type II?
gene mutation on chromosome 22
Neurofibromatosis