A heterogeneous group of disorders characterized by chronic epithelial fragility
Key symptom in all forms : Trauma induced skin blistering
Is caused by the mutation of 1 of at least 14 genes encoding proteins of the dermal–epidermal junction — a specialized basement-membrane zone that attaches the epidermis to the dermis.
– Epidermolysis Bullosa Simplex (EB Simplex) : 60%
Estimated Patient Number in the US : 25,000~50,000 (Orphan Designation)
In JEB and DEB, many patients can not survive longer than 10 years old.
– Junctional Epidermolysis Bullosa (JEB) : 10%
– Dystrophic Epidermolysis Bullosa (DEB) : 30%