Epidermolysis bullosa

Question 1

What are the symptoms of Epidermolysis bullosa?

Answer 1

Blisters on skin (from minor bumps or scraps)

Can be see when crawling or born with it

Question 2

What genes are involved in Epidermolysis?

Answer 2

KRT5/15 gene for Keratin

Question 3

What are the four forms of Epidermolysis bullosa?

Answer 3

Epidermolysis bullosa simplex
Dystrophic epidermolysis bullosa
Junctional epidermolysis bullosa
Kindler Syndrome

Question 4

What is the inheritance pattern for Epidemolysis bullosa simple {Epidermolysis bullosa}?

Answer 4

mainly autosomal dominant

Question 5

What is the inheritance pattern for Dystrophic epidermolysis bullosa {Epidermolysis bullosa}?

Answer 5

50/50 dominant or recessive

Question 6

What is the inheritance pattern for Junctional epidermolysis bullosa {Epidermolysis bullosa}?

Answer 6

Autosomal recessive

Question 7

What is the inheritance pattern for Kindler syndrome {Epidermolysis bullosa}?

Answer 7

Autosomal recessive

Question 8

What is the phenotype of the heterozygous in Epidermolysis bullosa?

Answer 8

Autosomal recessive–> carrier

Autosomal dominant–> show symptoms of disease

Question 9

Is the forms of Epidermolysis bullosa lethal?

Answer 9

No they are not on their own, but secondary effects can be lethal