Abstract
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”.
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Abbreviations
- RM:
-
Revertant mosaicism
- KRT10:
-
Keratin 10
- KRT1:
-
Keratin 1
- KRT14:
-
Keratin 14
- JEB:
-
Junctional epidermolysis bullosa
- IWC:
-
Ichthyosis with confetti
- RDEB:
-
Recessive dystrophic epidermolysis bullosa
- EBS:
-
Epidermolysis bullosa simplex
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Lim, Y.H., Fisher, J.M. & Choate, K.A. Revertant mosaicism in genodermatoses. Cell. Mol. Life Sci. 74, 2229–2238 (2017). https://doi.org/10.1007/s00018-017-2468-2
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DOI: https://doi.org/10.1007/s00018-017-2468-2