Epidermolysis Bullosa (EB)

Question 1

what is it?

Answer 1

a group of genetic skin fragility conditions

Question 2

what causes it?

Answer 2

dominant or recessive inheritance
new mutations and acquired
more than 10 genes involved associated with skin structure and adhesion

Question 3

how does it present?

Answer 3

with a lot of variety in severity - even blistering at birth won’t determine prognosis

Question 4

what are the 3 main types?

Answer 4

• Simplex: can be mild, varies in severity
• Dystrophic: causes scarring, can eventually cause mitten hands which can then go down to a little stump
• Junctional: epidermis is lost