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