Two Wrongs Sometimes Make a Right

Disease-free revertant patient cells can be obtained, with possible future use for local wound therapy and cell transplantation.

Mutations often have negative effects. For example, in recessive dystrophic epidermolysis bullosa (RDEB), loss-of-function mutations of COL7A1 abort formation of type VII collagen (C7), thereby preventing formation of anchoring fibrils. Transplants of bone marrow or umbilical cord blood from normal donors can mediate healing of skin and partially correct C7 deficiency in skin. Transplanted cells from donors with normal C7 genotypes home to the skin and produce C7-containing anchoring fibers. However, allogeneic bone marrow transplants to patients with RDEB could be dangerous, and wide use is limited by the unavailability of suitable donors.

Sometimes the gene mutates back. A 10-year-old boy with RDEB had a patch of healthy-appearing skin tha…

Reviewing Author

Mark V. Dahl, MD

Disclosures

Consultant / Advisory board Ulthera, Inc.; AuBio LifeSciences, LLC; Paris Therapeutics

Equity Elorac, Inc.; Makucell, Inc.; Paris Therapeutics

Editorial boards UpToDate

Leadership positions in professional societiesNational Rosacea Society (Chairman, Medical Board)