title: Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.
abstract: Revertant mosaicism (RM) refers to the co-existence of cells carrying disease-causing mutations with cells in which the inherited mutation is genetically corrected by a spontaneous event. It has been discovered in an increasing number of heritable skin diseases: ichthyosis with confetti and different subtypes of epidermolysis bullosa. This "natural gene therapy" phenomenon manifests as normal appearing skin areas surrounded by affected skin. Although initially thought to be rare, RM is now considered relatively common in genetic skin diseases. To address the issues relevant to RM, we here discuss the following questions: 1) What is the incidence of RM in heritable skin diseases? 2) What are the repair mechanisms in RM? 3) When do the revertant mutations occur? 4) How do you recognize revertant skin? 5) Do the areas of RM change in size? The answers to these questions allow us to acquire knowledge on these reverted cells, the mechanisms of RM, and utility of the reverted cells to the advantage of the patient. The revertant skin could potentially be used to treat the patient's own affected skin.
authors.affiliation: Department of Dermatology, University Medical Center, University of Groningen, Groningen, The Netherlands.
authors.forename: Anna M G
authors.initials: AM
authors.lastname: Pasmooij
authors.forename: Marcel F
authors.initials: MF
authors.lastname: Jonkman
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D004820:Epidermolysis Bullosa / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005821:Genetic Techniques; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009030:Mosaicism; D009154:Mutation; D012867:Skin; D012871:Skin Diseases / Q000235:genetics*; D014945:Wound Healing / Q000235:genetics