Tuberose sclerosis Flashcards
1
Q
aetiology
A
genetic - TSC1 or TSC2 gene mutation (may be inherited)
2
Q
what category of genetic disorder is tuberose sclerosis an example of
A
mendelian disorder (rare but serious)
3
Q
how does tuberose sclerosis present, specifically in infants (1)
A
infantile seizures
4
Q
how does tuberose sclerosis present on the skin (2)
A
ash leaf macules (depigmented) shagreen patches (rough patch on lower back)
5
Q
how does tuberose sclerosis present systemically (3)
A
fibromas - face (looks like acne without blackheads), bone, nail, heart, kidneys, pheochromocytoma
seizures/epilepsy
enamel pitting (teeth)
6
Q
how does tuberose sclerosis present in the nails (2)
A
periungal fibroma
longitudinal nail ridging
7
Q
treatment
A
inhibit mTOR gene
