Tuberous Sclerosis Flashcards
What is tuberous sclerosis
Genetic condition that causes benign neoplastic growths from the cells they originate from - harmatomas
Where does tuberous sclerosis normally occur
Skin Brain Lungs Heart Kidneys Eyes
Which genes are involved in tuberous sclerosis
TSC1 gene on chromosome 9 - hamartin
TSC2 gene on chromosome 16 - tuberin
What does hamartin and tuberin do
Interact to control the size and growth of cells
Skin signs of tuberous sclerosis
Ash leaf spots Shagreen patches Angiofibromas Subungual fibromata Cafe au lait spots Poliosis
Shagreen patches
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
Circular painless lumps that grow slowly and displace the nail
Poliosis
Isolated patch of white hair on the head, eyebrows, eyelashes or beard
Neurological features of tuberous sclerosis
Epilepsy
Learning disability and developmental delay
Other features of tuberous sclerosis
Rhabdomyomas in the heart Gliomas Polycystic kidneys Lymphangioleiomyomatosis - abnormal growth in smooth muscles cells often affecting the lungs Retinal hamartomas
Classical presentation of tuberous sclerosis
Epilepsy in childhood with associated skin features
Management of tuberous sclerosis
Treat epilepsy
