Ch 24 Other Genetic Disorders Flashcards
1
Q
Red Hair
A
MC1R
2
Q
NF-1
A
-Neurofibromin (TSG that normally inhibits RAS) Axillary Freckling 6+ Cafe Au Lait Neurofibromas Lisch Nodules
3
Q
NF2
A
Merlin
4
Q
TSC
A
-Ash Leaf spots
-Periungal Fibromas
Angiofibromas
- Shagreen Patches CT Nevi
-Epilepsy, MR
5
Q
XP
A
Mutation in Pyrimidine dimer repair
6
Q
Incogenti Pigmenti
A
- XLD, usually embryonic lethal in males
- Often sgmental (lyonization)
- NFKB
- Vesicular to Warty to Pigmented
7
Q
Ehlers Danlos
A
Elastin
8
Q
Pseudoxanthoma Elasticum
A
- Chicken plucked appearnace with slack skin
- ABC1
- Decrease Elastin
- Most issues are vascular
