tuberous sclerosis Flashcards
what
genetic condition
development of hamartomas
what are hamartomas
benign neoplastic growths of tissue
commonly affect
- skin
- brain
- lungs
- kidneys
- eyes
gene mutations
TSC1
TSC2
TSC1 gene
chr 9
codes for hamartin
TSC2
chr 16
tuberin
skin signs
ash leaf spots shagreen patches angiofibromas subungual fibromatoma cafe au lait spots poliosis
ash leaf spots
depigmented areas of skin shaped like an ash leaf
Shagreen patches
are thickened, dimpled, pigmented patches of skin
Angiofibromas
small skin coloured or pigmented papules that occur over the nose and cheeks
Subungual fibromata
fibromas growing from the nail bed. They are usually circular painless lumps that grow slowly and displace the nail
Poliosis
iolated patch of white hair on the head, eyebrows, eyelashes or beard
neurological features
epilepsy
learning difficulty
developmental delay
other features
heart rhabomyomas
gliomas
polycystic kidensy
retinal hamartomas
classic presentation
child presenting with epilepsy found to have skin features of tuberous sclerosis
Mx
supportive
monitor and treat complications
