So if you see a baby with TS you should examine the skin of the patients family and inquire about seizure history in parents. It is certainly a dominant one but a large number of spontaneous mutations. There are two chromosomes that have been identified. So the cerebral lesions are what I am going to talk about first. They are cortical tubers, or hamartomas and this is where epilepsy comes from.
Epilepsy comes from the cortex, and it s the tubers that cause that problem.
Because they make a big issue about these things sticking into the ventricle, giving it a verrucous irregular appearance. There are dermatologic lesions that assist in diagnosis for you clinically. A very prominent one is adenoma sebaceum, which are angiokeratomas. They can have hypopigmented macules, ash-leaf spots, shagreen patches. We saw this picture earlier, with the ash-leaf spot and several hypopigmented macules and there s the shagreen patch.