Phakomatoses

Question 0

Which is the only AR phakomatosis?

Answer 0

Ataxia telabgiectasia

Aka louis bar

Question 1

Lisch nodules

Cafe au lait spots

Answer 1

Nf1

Question 2

Whats the pattern of inher of nf1

Answer 2

Ad

Question 3

2 pseudonyms for tuberous sclerosia

Answer 3

Bournvilles dz

Pringles dz

Question 4

Ash leaf spot

Shagreen patch

Answer 4

Tuberous sclerosis

Question 5

Whats adenoma sebaceum

Answer 5

Red bumps in malar distribution seen in tuberous sclerosis

Question 6

Astrocytic hamartoma of retina

Answer 6

Tuberous sclerosis (mulberry like white tumor)

Question 7

What are 2 systemic tumors seen in vhl?

Answer 7

Renal cc

Pheochromocytoma

Question 8

Whats the retinal tumor in vhl called?

Answer 8

Capillary hemangioma

Question 9

Facial nevus flammeua seen in…

Answer 9

Sturge weber

Question 10

Choroidal hemangioma

Answer 10

Sturge weber

Question 11

Whats racimise angiomatosis?

Answer 11

Squiggly vessels in wyburn mason syndrome

Question 12

What are 3 findings in organoid nevus syndrome?

Answer 12

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

Question 13

Whats the only phako w ar inheritence?

Answer 13

Louis bar aka ataxia telangiectasia

Question 14

Whats the finding in louis bar?

Answer 14

Conjunctival telamgiectasia

Question 15

whats retinal angiomatosis?

Answer 15

synonym with retinal hemangioblastoma or retinal capillary hemangioma

Question 16

What type of cataract do you get in NF2?

Answer 16

PSC (or cortical wedge)

Question 17

what phacomatosis can have congenital iris ectropion?

Answer 17

NF1

Question 18

whats encephalotrigeminal angiomatosis?

Answer 18

sturge weber

Question 19

which is NOT caused by tumor suppressor gene malfxn

Answer 19

sturge weber

Question 20

what bonnet-daucamp-blanc syndrome?

Answer 20

wyburn-mason

Question 21

who gets schwannomas? (antoni a and b)

Answer 21

nf1