Neurofibromatosis
There are two types of neurofibromatosis, NF1 and NF2. Both are inherited in an
autosomal dominantNeurofibromatosis is autosomal dominant
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Importance: 38
fashion.
Comparison
| NF1 Cafe-au-lait spots, axillary freckles, iris harmatomas, phaeochromacytoma - neurofibromatosis type 1 You've never been tested on this concept You've not yet rated this concept. Importance: 48 | NF2 |
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| Incidence | 1 in 4,000 | 1 in 100,000 |
| Gene & protein | Mutation in the NF1 gene on chromosome 17 Neurofibromatosis type 1 - chromosome 17 You've never been tested on this concept You've not yet rated this concept. Importance: 43 → loss of neurofibromin, a negative regulator of RAS signalling | Mutation in the NF2 gene on chromosome 22 Neurofibromatosis type 2 - chromosome 22 You've never been tested on this concept You've not yet rated this concept. Importance: 25 → loss of merlin, which controls Schwann cell growth and contact inhibition |
| Primary cell type affected | Affects neural crest–derived cells broadly (Schwann cells, melanocytes, fibroblasts) | Predominantly affects Schwann cells |
| Features | Cafe-au-lait spots Neurofibromatosis - cafe-au-lait spots You've never been tested on this concept You've not yet rated this concept. Importance: 32 (>= 6, 15 mm in diameter)
Axillary/groin frecklesAxillary freckles are indicative of neurofibromatosis type 1 You've never been tested on this concept You've not yet rated this concept. Importance: 9
Peripheral neurofibromas
Iris hamartomas (Lisch nodules)Neurofibromatosis - Lisch nodules in the iris You've never been tested on this concept You've not yet rated this concept. Importance: 35 in > 90%
Scoliosis
PheochromocytomasRegular blood pressure checks are recommended for neurofibromatosis type I patients due to the risk of phaeochromocytoma You've never been tested on this concept You've not yet rated this concept. Importance: 30 | Bilateral vestibular schwannomas Neurofibromatosis type 2 is associated with bilateral vestibular schwannomas You've never been tested on this concept You've not yet rated this concept. Importance: 49
Multiple intracranial schwannomas, menigiomas and ependymomas |
Comparison of neurofibromatosis and tuberous sclerosis. Note that whilst they are both autosomal dominant neurocutaneous disorders there is little overlap otherwise
+PassMedicine Notes
There are two types of neurofibromatosis, NF1 and NF2. Both are inherited in an autosomal dominant fashion.
Comparison
_NF1_NF2|
Incidence _ 1 in 4,000 _ 1 in 100,000|
Gene & protein _Mutation in the NF1 gene on chromosome 17 → loss of neurofibromin, a negative regulator of RAS signalling _ Mutation in the NF2 gene on chromosome 22 → loss of merlin, which controls Schwann cell growth and contact inhibition|
Primary cell type affected _ Affects neural crest–derived cells broadly (Schwann cells, melanocytes, fibroblasts) _ Predominantly affects Schwann cells|
Features_ Cafe-au-lait spots (>= 6, 15 mm in diameter)
Axillary/groin freckles
Peripheral neurofibromas
Iris hamartomas (Lisch nodules) in > 90%
Scoliosis
Pheochromocytomas _
Bilateral vestibular schwannomas
Multiple intracranial schwannomas, menigiomas 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