Pathognomonic*/Highly Associated Findings Flashcards
1
Q
Cowden syndrome
A
- Esophageal glycogenic acanthosis
- Lhermitte Duclos disease
- Papillomatous papules
2
Q
Von Hippel Lindau
A
- Hemangioblastoma of the spine/brain
- Bilateral endolymphatic sac tumor
3
Q
Birt Hogg Dube
A
- Fibrofolliculoma
- Chromophobe renal cell carcinoma
4
Q
NF2
A
- Bilateral vestibular schwannomas
5
Q
Aicardi
A
- Retinal Lacunae
6
Q
HLRCC
A
- Papillary type II renal cell carcinoma
7
Q
Tuberous sclerosis
A
- cardiac rhabdomyoma
8
Q
Gorlin (nevus basal cell carcinoma)
A
- Calcification of the falx
9
Q
Li Fraumeni syndrome
A
- choroid plexus tumor
- adrenocortical carcinoma
10
Q
Werner
A
- acral lentiginous melanoma
11
Q
Townes Brock
A
- Triphalangeal thumb
12
Q
Williams
A
- Supravalvular aortic stenosis
13
Q
Zellweger
A
- Severe hypotonia and increased neck fat
14
Q
Allagile
A
- Posterior embryotoxin
15
Q
Alport
A
- Anterior lenticonus
