title: Revertant mosaicism in the skin.
abstract: Revertant mosaicism is a naturally occurring phenomenon involving the spontaneous correction of a pathogenic mutation in a somatic cell. Revertant mosaicism is not a rare event and has been described in several inherited skin conditions, including various subtypes of epidermolysis bullosa. The recognition of revertant mosaicism paves the way for revertant therapy which represents a potentially exciting "natural gene therapy" option for genetic disorders. The skin provides a useful model for studying revertant mosaicism because it is readily accessible and easy to examine. In this paper, we provide an overview of revertant mosaicism and its relevance in genetic skin disorders.
authors: Department of Dermatology, King Edward VII Hospital, Windsor, UK.
authors: J E
authors: JE
authors: Lai-Cheong
authors: J A
authors: JA
authors: McGrath
mesh_terms: D004820:Epidermolysis Bullosa / Q000235:genetics; D006801:Humans; D009030:Mosaicism; D009154:Mutation; D039904:Pluripotent Stem Cells / Q000637:transplantation; D012871:Skin Diseases / Q000235:genetics* / Q000601:surgery