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Revertant mosaicism in a patient with recessive dystrophic epidermolysis bullosa

Revertant mosaicism in a patient with recessive dystrophic epidermolysis bullosa

 
 

A 42-year-old Spanish female with recessive dystrophic epidermolysis bullosa demonstrated reversion of an inherited COL7A1 mutation that was homozygous for the frameshift mutation COL7A1:c.6527insC, p.2176FsX337. A patch of revertant healthy skin was evident on the patient's left forearm. Revertant mosaicism has been referred to as "natural gene therapy" and may be more common in patients with type VII collagen-deficient dystrophic epidermolysis bullosa, as was the case in this patient (Pasmooij, A.M.G. et al. J Invest Dermatol 2010, 130: 2407).

 
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