fcambridgeHow is Tuberous Sclerosis the most likely given that it is an AD disorder and there is no family history of "seizure disorder or major medical illnesses"?+12019-06-07T16:09:18Z
d_holles@fcambridge variable expressivity of TSC allows for many different phenotypes. +12019-07-03T14:41:35Z
cocoxaurusThis question was tricky!
Tuberous sclerosis= Hypopigmented= Ash leaf spot (The skin lesion in NF is Hyperpigmented- Cafe au lait and in Sturge Weber it's a port wine stain (also not hypopigmented).
I'm assuming that the SINGLE raised flesh colored lesion is a Hamartoma (The angiofibromas in NF1 are typically multiple).
Although both Tuberous Sclerosis and Sturge Weber are both associated with seizures, I used all the other stuff to narrow it down to the correct answer.
Also, don't forget that there is Incomplete penetrance and variable expressivity in Tuberous Sclerosis. So I think the lack of family history of "seizure or major medical illness" was there to throw us off.
bubblesThank you! :) I thought I really knew my congenital disorders, so I was a little annoyed when they trotted this question out+12019-06-08T19:33:18Z