genetics Flashcards
1
Q
what is porphyria cutanea tarda (PCT) type 1 caused by?
A
genetics or alcohol, hepatitis, haemochromatosis
2
Q
what will be seen in someone with PCT type 1?
A
blistering and fragility on sun-exposed areas
3
Q
what investigations are used in PCT type 1?
A
woods lamp
4
Q
what is the management of PCT type 1?
A
treat underlying cause, avoid sun
5
Q
what is seen in tuberous sclerosis?
A
ash leaf molecules
messed up nails
benign tumours
enamel pitting
6
Q
what is the management of tuberous sclerosis?
A
topical rapamycin (mTOR inhibitor)
7
Q
what is epidermolysis bullosa?
A
blistering at birth
8
Q
what is seen in neurofibromatosis?
A
cafe au lait macules
neurofibromas (soft neural tumours)
optic glioma
distinctive bony lesion
9
Q
A
