Pathology Flashcards
1
Q
VHL
A
Tumor suppressor chromosome 3
Cerebellar hemangioblastoma, RCC w/inc EPO, Pheochromocytoma
2
Q
Flame hemorrhage, AV nicking, cotton-wool spots (areas of ischemia)
A
Hypertensive retinopathy
3
Q
Kayser Fleisher rings
A
Wilson’s disease - copper in cornea
4
Q
Lisch nodules
A
Iris hamartoma in NF1
5
Q
Blue sclera
A
OI - Type 1 collagen deficiency (autosomal dominant) - problems forming triple helix