Neurofibromatosis
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
Features
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
Features
| NF1 | NF2 |
|---|---|
| Café-au-lait spots (>= 6, 15 mm in diameter) Axillary/groin freckles Peripheral neurofibromas Iris hamatomas (Lisch nodules) in > 90% Scoliosis Pheochromocytomas | Bilateral acoustic neuromas Multiple intracranial schwannomas, mengiomas and ependymomas |
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Comparison of neurofibromatosis and tuberous sclerosis. Note that whilst they are both autosomal dominant neurocutaneous disorders there is little overlap otherwise
