Genetics Flashcards

1
Q

What is this?

A

Periungual Fibromata

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is this sign called?

A

Longitudinal ridging

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the diagnosis?

A

Tuberose Sclerosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What kinds of things do people with Tuberose Sclerosis get?

A

Infantile seizures

Ash leaf macules

Periungual fibromas

Facial angiofibromas

Hamartomas and bone cysts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

How is Tuberose Sclerosis passed on?

A

Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the Diagnosis ?

Born at term, some skin loss noted on delivery

24 hrs later widespread blistering and skin loss which progressed to extensive skin loss with any movement or handling of the baby

A

Epidermolysis Bullosa

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the thee main types of Epidermolysis Bullosa?

A

Simplex ( Epidermis only)

Junctional (Dermo-epidermal Junction)

Dystrophic (Dermis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Whats the diagnosis ?

greater than 5 Cafe au lait macules

Axillary freckles

A

Neurofibromatosis type 1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q
A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly