Tuberous sclerosis Flashcards
1
Q
What iWs the inheritance pattern
A
Autosomal dominant
2
Q
What is the characteristic feature?
A
Hamartomas - benign tissue growths
3
Q
What organs does it tend to affect?
A
Skin
brain
lung
heart
kidney
eyes
4
Q
What mutations occur?
A
TSC1 gene on chromosome 9
or
TSC2 gene on chromosome 16
5
Q
What are skin features?
A
Ash leaf spots - dipigmented areas of skin shaped like ash leaves
Shagreen patches
Angiofibromas
Ungual fibromas - circular painless lumps that grow from the nail bed
Cafe-au lait spots
Poliosis - isolated patch of white hair
6
Q
What are neurological features?
A
epilepsy
learning disability
brain tumourW
7
Q
What is management?
A
Supportive
mTOR inhibitors - evrolimus can suppress growth of brain lung or kidney tumours
8
Q
A
