Tuberous Sclerosis Flashcards
1
Q
What type of cancer does tuberous sclerosis cause?
A
Hamartomas (benign cancers that are growths of the tissue they originated from)
2
Q
What two possible gene mutations can cause tuberous sclerosis, on which chromosomes are they found and what proteins do they code for?
A
TSC1 on chromosome 9 codes for hamartin
TSC2 on chromosome 16 codes for tuberin
3
Q
What are the skin signs of tuberous sclerosis? (6)
A
Ash leaf spots
Shagreen patches
Angiofibromas
Subungual fibromata
Cafe-au-lait spots
Poliosis (isolated patch of white hair)
4
Q
What are the two neurological features of tuberous sclerosis?
A
Epilepsy
Learning disability and developmental delay
