Genetics Flashcards
what is a severe presentation of tuberous sclerosis?
infantile seizures
what is the earliest sign of tuberous sclerosis?
ash leaf macules
what is the inheritance pattern of tuberous sclerosis?
autosomal dominant
what are the two genes involved in tuberous sclerosis and what do they code for?
TSC1 and TSC2 - tumour regulators
tuberin and hamartin
what are two other skin signs seen in tuberous sclerosis?
shagreen patches
enamel pitting
what is the penetrance of tuberous sclerosis?
high
minority have no features
what inheritance pattern does EB show?
dominant or recessive or sporadic
what is EB?
epidermolysis bullosa
what are the three main types of EB?
simplex
junctional
dystrophic
where does simplex EB affect?
epidermis
where does junctional EB affect?
DEJ
where does dystrophic EB affect?
dermis
what is the targeted therapy for neurofibromatosis type 1?
MEK inhibitors
