• 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.
  • Types
  • – Epidermolysis Bullosa Simplex (EB Simplex) : 60%
    – Junctional Epidermolysis Bullosa (JEB) : 10%
    – Dystrophic Epidermolysis Bullosa (DEB) : 30%

  • 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.
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