Thursday, November 12, 2009

What is EB ?

Epidermolysis Bullosa is a painful, life threatening disease of the skin. Sammy has the form called Recessive Dystrophic. In his case the bottom layer of his skin does not adhere properly to the other layers because the collagen 7 protein involved in this function is either missing or mis-shapen. Further genetic testing will determine whether he has the protein or it is deformed.
Because of this genetic defect ANY friction however slight can cause several layers of skin to rip away creating horrific, painful wounds. Daily activity also creates giant blood blisters as the skin detaches from the rest of his body. These blisters will continue to grow as they pull on the skin unless they are popped with a sharp needle.

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