Tuberous Sclerosis Flashcards
1
Q
what is it?
A
Genetic condition characterised by formation of hamartomas in multiple body systems. Hamartomas are benign neoplastic growths of tissue of origin
2
Q
aetiology?
A
mutations in one of the two genes:
- TSC1 on chromosome 9 - hamartin
- TSC2 on chromosome 16- tuberin
3
Q
presentation?
A
- ash leaf spots
- depigmented patches in the shape of an ash leaf
- shagreen patches
- thickened, dimpled pigmented patches of skin
- angiofibromas
- skin coloured / pigmented papules on nose & cheeks
- subungal fibromata
- fibromas growing from nail bed
- cafe au lait spots
- poliosis
- isolated patch of white hair
- neurologically:
- epilepsy
- learning disability & developmental delay
4
Q
other features?
A
- rhabdomyomas in the heart
- polycystic kidneys
- lymphangioleimyomatosis
- smooth muscle growths mainly in lungs, cause cough and SOB
- retinal hamartomas
- gliomas
5
Q
when does it present and Mx
A
- presents in childhood usually but can also in adulthood
- Mx: supportive
