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Ann N Y Acad Sci. 2010 Apr;1194:213-22. doi: 10.1111/j.1749-6632.2010.05463.x.

Inherited epidermolysis bullosa: past, present, and future.

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Department of Medicine (Dermatology), Vanderbilt University School of Medicine, National Epidermolysis Bullosa Registry, Nashville, TN, USA.


Inherited epidermolysis bullosa encompasses dozens of diseases characterized by mechanical fragility of the skin, blister formation, and abnormal wound healing. Most of the more severe subtypes are associated with clinically significant extracutaneous complications. Some subtypes may lead to death, even in early infancy. Over the past two decades substantial advances have been made to our understanding of the underlying molecular basis for each member of this protean group of diseases. Research has now shifted toward the identification of therapeutic interventions, to include gene therapy, recombinant protein infusions, intradermal injection of allogeneic fibroblasts, and stem cell transplantation, that might eventually lead to a definitive cure for this disease. Other developing therapies being explored are directed toward the enhancement of wound healing and the prevention of potentially life-threatening skin cancers in these patients.

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