What is Neurofibromatosis?

a group of conditions in which tumors grow in the nervous system

How common is Neurofibromatosis type I?

affects around 1 in 4,000

What 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

How common is Neurofibromatosis type II?

1 in 100,000

What 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