Syndromes (WM) Flashcards
1
Q
What is the cutaneous manifestation of tuberous sclerosis?
A
Facial angiofibromas
Ungual fibromas
Ash-leaf spots (hypermelanoitc macules)
Shagreen patch (peau d’orange)
2
Q
What are the three brain tumours associated with tuberous sclerosis?
A
Cortical tubers
Subependymal nodules
Subependymal giant cell astrocytomas
3
Q
What are the two genes associated with tuberous sclerosis?
A
TSC1 (Tuberous Sclerosis Complex 1) - makes hamartin - ch9
TSC2 (Tuberous Sclerosis Complex 2) - makes tubulin - ch16
4
Q
What systemic manifestations of TS?
A
renal cysts
renal angiomyolipomas
cardiac rhabdomyomas
retinal astrocytoma
5
Q
What are chromosomes of NF1 and NF2?
A
17 and 22
