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Revertant mosaicism in genodermatoses

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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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Authors and Affiliations

  1. Department of Dermatology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, 06519, USA

    Young H. Lim, Jonathan M. Fisher & Keith A. Choate

  2. Department of Pathology, Yale University School of Medicine, New Haven, CT, USA

    Young H. Lim & Keith A. Choate

  3. Department of Genetics, Yale University School of Medicine, New Haven, CT, USA

    Young H. Lim & Keith A. Choate

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  1. Young H. Lim
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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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