BUTTERFLY CHILDREN

GENERAL INFORMATION

 Epidermolysis Bullosa - rare genetic connective tissue disorder (approximately 200

children a year are born with EB, 500 000 affected globally)
 Main symptom - extremely fragile skin (minor friction or trauma causes blisters and tears)
 Extremely painful, can affect internal organs as well, often lethal before 30
 affects both genders and every racial and ethnic background equally
 Requires daily treatment and pain management
 No cure

GENES INVOLVED INHERITANCE

• Autosomal Dominant Inheritance -

An autosomal dominant disorder is where one
gene for the condition passed from the parent
expresses itself in an individual. A parent with
an autosomal dominant form of EB has a 50:50
chance with each pregnancy of transmitting
the abnormal gene. Only one gene is enough
for the condition to express itself.

• Autosomal Recessive Inheritance - An

autosomal recessive disorder is one in which
a recessive (unexpressed) gene for the
disorder is passed from each parent and the
two genes are paired together, causing the
(Keratin responsible for skin disorder to be expressed in the child. If
resistence – KRT5, KRT14) parents are each carriers of an autosomal
recessive gene, there is a 25 percent
chance with each pregnancy that their
children will have the disorder.
 Dominant - if one parent affected, one not:

- 50% chance for children to be affected (and at

the same time to be carriers)

Recessive – if one parent affected, one carrier

- 50% chance for children to be affected

- 50% chance for children to be carriers

RESOURCES

- “About EB.” Debra of America - Dystrophic Epidermolysis Bullosa Research Association,

www.debra.org/abouteb#genetic
- “EB in Depth.” Debra of America - Dystrophic Epidermolysis Bullosa Research Association,
www.debra.org/ebindepth.