There are two types of neurofibromatosis, NF1 and NF2. Both are inherited in an autosomal dominant fashion
NF1 is also known as von Recklinghausen's syndrome. It is caused by a gene mutation on chromosome 17 which encodes neurofibromin and affects around 1 in 4,000
NF2 is caused by gene mutation on chromosome 22 and affects around 1 in 100,000
| NF1 | NF2 |
|---|---|
| Cafe-au-lait spots (>= 6, 15 mm in diameter) | |
| Axillary/groin freckles | |
| Peripheral neurofibromas | |
| Iris hamatomas (Lisch nodules) in > 90% | |
| Scoliosis | |
| Pheochromocytomas | Bilateral vestibular schwannomas |
| Multiple intracranial schwannomas, mengiomas and ependymomas |
Comparison of neurofibromatosis and tuberous sclerosis. Note that whilst they are both autosomal dominant neurocutaneous disorders there is little overlap otherwise