Neurofibromatosis Flashcards
1
Q
What mnemonic could you use to remember features of neurofibromatosis type I?
A
CAFE SPOT
- Café au lait spots
- Axillary + inguinal freckling
- Fibromas
- Eye: Lisch nodules
- Sphenoid dysplasia
- Positive family history
- Optic Tumour (glioma)
2
Q
Whats the difference between type 1 and type 2?
A
Type 1 is peripheral
Type 2 is central
3
Q
Features in type 1 NF
A
Cafe au lait spots,
Axillary/groin freckles,
Peripheral neurofibromas,
Iris hamatomas (lisch nodules),
Scoliosis,
Phaechromocytomas
4
Q
Features in type 2 NF
A
Bilateral vestibular schwannomas
Multiple intracranial schwannomas, mengiomas and ependymomas
5
Q
Name a condition associated with neurofibromatosis type 2
A
Acoustic schwannoma
6
Q
What is the inheritance of NF?
A
Autosomal dominant
7
Q
Where is the gene mutation in NF1?
NF2?
A
Chromosome 17
Chromosome 2
