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Xeroderma Pigmentosum: General Aspects and Management

Xeroderma Pigmentosum (XP) is a rare genetic syndrome with a defective DNA nucleotide excision repair. It is characterized by (i) an extreme sensitivity to ultraviolet (UV)-induced damages in the skin and eyes; (ii) high risk to develop multiple skin tumours; and (iii) neurologic alterations in the...

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Autores principales: Piccione, Monica, Belloni Fortina, Anna, Ferri, Giulia, Andolina, Gloria, Beretta, Lorenzo, Cividini, Andrea, De Marni, Emanuele, Caroppo, Francesca, Citernesi, Ugo, Di Liddo, Rosa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8624855/
https://www.ncbi.nlm.nih.gov/pubmed/34834498
http://dx.doi.org/10.3390/jpm11111146
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author Piccione, Monica
Belloni Fortina, Anna
Ferri, Giulia
Andolina, Gloria
Beretta, Lorenzo
Cividini, Andrea
De Marni, Emanuele
Caroppo, Francesca
Citernesi, Ugo
Di Liddo, Rosa
author_facet Piccione, Monica
Belloni Fortina, Anna
Ferri, Giulia
Andolina, Gloria
Beretta, Lorenzo
Cividini, Andrea
De Marni, Emanuele
Caroppo, Francesca
Citernesi, Ugo
Di Liddo, Rosa
author_sort Piccione, Monica
collection PubMed
description Xeroderma Pigmentosum (XP) is a rare genetic syndrome with a defective DNA nucleotide excision repair. It is characterized by (i) an extreme sensitivity to ultraviolet (UV)-induced damages in the skin and eyes; (ii) high risk to develop multiple skin tumours; and (iii) neurologic alterations in the most severe form. To date, the management of XP patients consists of (i) early diagnosis; (ii) a long-life protection from ultraviolet radiation, including avoidance of unnecessary UV exposure, wearing UV blocking clothing, and use of topical sunscreens; and (iii) surgical resections of skin cancers. No curative treatment is available at present. Thus, in the last decade, in order to prevent or delay the progression of the clinical signs of XP, numerous strategies have been proposed and tested, in some cases, with adverse effects. The present review provides an overview of the molecular mechanisms featuring the development of XP and highlights both advantages and disadvantages of the clinical approaches developed throughout the years. The intention of the authors is to sensitize scientists to the crucial aspects of the pathology that could be differently targeted. In this context, the exploration of the process underlining the conception of liposomal nanocarriers is reported to focus the attention on the potentialities of liposomal technology to optimize the administration of chemoprotective agents in XP patients.
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spelling pubmed-86248552021-11-27 Xeroderma Pigmentosum: General Aspects and Management Piccione, Monica Belloni Fortina, Anna Ferri, Giulia Andolina, Gloria Beretta, Lorenzo Cividini, Andrea De Marni, Emanuele Caroppo, Francesca Citernesi, Ugo Di Liddo, Rosa J Pers Med Review Xeroderma Pigmentosum (XP) is a rare genetic syndrome with a defective DNA nucleotide excision repair. It is characterized by (i) an extreme sensitivity to ultraviolet (UV)-induced damages in the skin and eyes; (ii) high risk to develop multiple skin tumours; and (iii) neurologic alterations in the most severe form. To date, the management of XP patients consists of (i) early diagnosis; (ii) a long-life protection from ultraviolet radiation, including avoidance of unnecessary UV exposure, wearing UV blocking clothing, and use of topical sunscreens; and (iii) surgical resections of skin cancers. No curative treatment is available at present. Thus, in the last decade, in order to prevent or delay the progression of the clinical signs of XP, numerous strategies have been proposed and tested, in some cases, with adverse effects. The present review provides an overview of the molecular mechanisms featuring the development of XP and highlights both advantages and disadvantages of the clinical approaches developed throughout the years. The intention of the authors is to sensitize scientists to the crucial aspects of the pathology that could be differently targeted. In this context, the exploration of the process underlining the conception of liposomal nanocarriers is reported to focus the attention on the potentialities of liposomal technology to optimize the administration of chemoprotective agents in XP patients. MDPI 2021-11-04 /pmc/articles/PMC8624855/ /pubmed/34834498 http://dx.doi.org/10.3390/jpm11111146 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Piccione, Monica
Belloni Fortina, Anna
Ferri, Giulia
Andolina, Gloria
Beretta, Lorenzo
Cividini, Andrea
De Marni, Emanuele
Caroppo, Francesca
Citernesi, Ugo
Di Liddo, Rosa
Xeroderma Pigmentosum: General Aspects and Management
title Xeroderma Pigmentosum: General Aspects and Management
title_full Xeroderma Pigmentosum: General Aspects and Management
title_fullStr Xeroderma Pigmentosum: General Aspects and Management
title_full_unstemmed Xeroderma Pigmentosum: General Aspects and Management
title_short Xeroderma Pigmentosum: General Aspects and Management
title_sort xeroderma pigmentosum: general aspects and management
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8624855/
https://www.ncbi.nlm.nih.gov/pubmed/34834498
http://dx.doi.org/10.3390/jpm11111146
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