Revertant mosaicism in genodermatoses.
Inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and disorders of differentiation or development. In most cases, the skin is broadly involved throughout the affected individual's lifetime, but rarely, appearance of normal skin clones has been described. In these cases of revertant mosaicism, cells undergo spontaneous correction to ameliorate the effects of genetic mutation. While targeted reversion of genetic mutation would have tremendous therapeutic value, the mechanisms of reversion in the skin are poorly understood. In this review, we provide an overview of genodermatoses that demonstrate widespread reversion and their corrective mechanisms, as well as the current research aimed to understand this "natural gene therapy".
Department of Dermatology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, 06519, USA.|Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.|Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Young H
YH
Lim
Department of Dermatology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, 06519, USA.
Jonathan M
JM
Fisher
Department of Dermatology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, 06519, USA. keith.choate@yale.edu.|Department of Pathology, Yale University School of Medicine, New Haven, CT, USA. keith.choate@yale.edu.|Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. keith.choate@yale.edu.
Keith A
KA
Choate
D004817:Epidermis / Q000473:pathology; D006801:Humans; D007633:Keratins / Q000235:genetics; D009030:Mosaicism; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012871:Skin Diseases / Q000235:genetics* / Q000628:therapy
D007633:Keratins
Confetti; DNA repair; Epidermolysis bullosa; Genodermatoses; Reversion; Revertant mosaicism