1. Epidermolysis Bullosa
"Butterfly Babies"

2. What is EB?
Group of inherited conditions with fragility of skin and mucous membranes (blisters and comes off easily)
Abnormal protein connecting layers of skin

3. What does EB look like?

4. Hyperelastic Skin
"India Rubber Skin"

5. What is it? Most often seen in Ehlers-Danlos Syndrome
Hyperextensible joints
Result of the production of abnormal collagen fibers

6. Achondroplasia
"Dwarfism"

7. What causes achondroplasia?
Genetic condition- autosomal dominant (50/ 50 chance to pass to children)– 75% new mutation
Features due to abnormal cartilage formation
Gene affected- fibroblast growth
factor receptor 3 (FGFR 3)

8. Progeria
"prematurely old"

9. What is progeria? Believed to be caused by a single abnormal gene
Very rare (1 in 4 million)
Causes accelerated aging (7 times normal rate)
Very shortened life expectancy

10. Neurofibromatosis
"Elephant man disease"
Proteus

11. Neurofibromatosis
Growth of tumors on the nerves anywhere in the body anytime
Can be mild to severe
Autosomal dominant

12. Proteus
Asymmetrical growths and abnormalities involving the face, skin, eyes, ears, lungs, muscles, and nerves
No genetic link