Pathology Flashcards

1
Q

VHL

A

Tumor suppressor chromosome 3

Cerebellar hemangioblastoma, RCC w/inc EPO, Pheochromocytoma

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2
Q

Flame hemorrhage, AV nicking, cotton-wool spots (areas of ischemia)

A

Hypertensive retinopathy

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3
Q

Kayser Fleisher rings

A

Wilson’s disease - copper in cornea

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4
Q

Lisch nodules

A

Iris hamartoma in NF1

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5
Q

Blue sclera

A

OI - Type 1 collagen deficiency (autosomal dominant) - problems forming triple helix

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