Neurofibromatosis Flashcards
1
Q
What is the more common type?
A
NF1
2
Q
What pattern of inheritance do you get with NF?
A
Autosomal dominant
3
Q
The protein neurofibronin - a tumour suppressor - is what is not coded for in NF1. On what chromosome can you find this?
A
Chromosome 17
4
Q
The protein merlin is affected in NF2. What chromosome is that found on?
A
22
5
Q
Dermatologically how does NF1 present?
How can it present ocularly?
A
Cafe-au-lait spots
Neurofibromas
Axiallary/inguinal freckles
Lisch nodules - yellow/brown slightly raised dots on the iris
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6
Q
What kind of tumours do you get in NF2?
A
schwannomas
7
Q
What health condition is associated with NF2?
A
Sensironeural hearing loss - bilateral acosutic tumours = NF2
