Kinsler, V;
Boccara, O;
Fraitag, S;
Torrelo, A;
Vabres, P;
Diociauti, A;
(2020)
Mosaic abnormalities of the skin – review and guidelines from the European Reference Network for rare skin diseases (ERN-Skin).
British Journal of Dermatology
, 182
(3)
pp. 552-563.
10.1111/bjd.17924.
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Abstract
Cutaneous mosaicism is an area of Dermatology in which there has been an explosion of knowledge within the current decade. This has led to fundamental changes in the understanding of the conditions in this field, and to an ongoing paradigm shift in the approach to management of mosaic skin disorders. In this consensus expert review as part of the European Reference Network project (ERN‐Skin), we lay out the general principles of mosaicism as they are currently understood, summarise the known cutaneous mosaic abnormalities of the skin with associated phenotypic and genotypic information, review the latest trials on targeted therapies and propose guidelines for the general approach to a suspected mosaic patient.
| Type: | Article |
|---|---|
| Title: | Mosaic abnormalities of the skin – review and guidelines from the European Reference Network for rare skin diseases (ERN-Skin) |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/bjd.17924 |
| Publisher version: | https://doi.org/10.1111/bjd.17924 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Mosaicism, post‐zygotic, skin, guidelines, management, investigation, targeted therapy |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10073400 |
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