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Y2 Dermatology > Genetics > Flashcards

Flashcards in Genetics Deck (13)
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1
Q

what is a severe presentation of tuberous sclerosis?

A

infantile seizures

2
Q

what is the earliest sign of tuberous sclerosis?

A

ash leaf macules

3
Q

what is the inheritance pattern of tuberous sclerosis?

A

autosomal dominant

4
Q

what are the two genes involved in tuberous sclerosis and what do they code for?

A

TSC1 and TSC2 - tumour regulators

tuberin and hamartin

5
Q

what are two other skin signs seen in tuberous sclerosis?

A

shagreen patches

enamel pitting

6
Q

what is the penetrance of tuberous sclerosis?

A

high

minority have no features

7
Q

what inheritance pattern does EB show?

A

dominant or recessive or sporadic

8
Q

what is EB?

A

epidermolysis bullosa

9
Q

what are the three main types of EB?

A

simplex
junctional
dystrophic

10
Q

where does simplex EB affect?

A

epidermis

11
Q

where does junctional EB affect?

A

DEJ

12
Q

where does dystrophic EB affect?

A

dermis

13
Q

what is the targeted therapy for neurofibromatosis type 1?

A

MEK inhibitors