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GENODERMATOSES
Giornale Italiano di Dermatologia e Venereologia 2013 February;148(1):73-82
Copyright © 2013 EDIZIONI MINERVA MEDICA
language: English
Revertant mosaicism in the skin
Lai-Cheong J. E. 1, McGrath J. A. 2 ✉
1 Department of Dermatology, King Edward VII Hospital, Windsor, UK; 2 St John’s Institute of Dermatology, Division of Genetics and Molecular Medicine, King’s College London, London, UK
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.