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Flashcards in Phakomatoses Deck (22):
0

Lisch nodules
Cafe au lait spots

Nf1

1

Which is the only AR phakomatosis?

Ataxia telabgiectasia
Aka louis bar

2

Whats the pattern of inher of nf1

Ad

3

2 pseudonyms for tuberous sclerosia

Bournvilles dz
Pringles dz

4

Ash leaf spot
Shagreen patch

Tuberous sclerosis

5

Whats adenoma sebaceum

Red bumps in malar distribution seen in tuberous sclerosis

6

Astrocytic hamartoma of retina

Tuberous sclerosis (mulberry like white tumor)

7

What are 2 systemic tumors seen in vhl?

Renal cc
Pheochromocytoma

8

Whats the retinal tumor in vhl called?

Capillary hemangioma

9

Facial nevus flammeua seen in...

Sturge weber

10

Choroidal hemangioma

Sturge weber

11

Whats racimise angiomatosis?

Squiggly vessels in wyburn mason syndrome

12

What are 3 findings in organoid nevus syndrome?

1. Choroidal osteoma
2. Epibulbar mass like dermoid
3. Alopcia on side of head

13

Whats the only phako w ar inheritence?

Louis bar aka ataxia telangiectasia

14

Whats the finding in louis bar?

Conjunctival telamgiectasia

15

whats retinal angiomatosis?

synonym with retinal hemangioblastoma or retinal capillary hemangioma

16

What type of cataract do you get in NF2?

PSC (or cortical wedge)

17

what phacomatosis can have congenital iris ectropion?

NF1

18

whats encephalotrigeminal angiomatosis?

sturge weber

19

which is NOT caused by tumor suppressor gene malfxn

sturge weber

20

what bonnet-daucamp-blanc syndrome?

wyburn-mason

21

who gets schwannomas? (antoni a and b)

nf1