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Review
. 2021 Nov 4;11(11):1146.
doi: 10.3390/jpm11111146.

Xeroderma Pigmentosum: General Aspects and Management

Monica Piccione  1 , Anna Belloni Fortina  2 , Giulia Ferri  3 , Gloria Andolina  3 , Lorenzo Beretta  3 , Andrea Cividini  3 , Emanuele De Marni  3 , Francesca Caroppo  2 , Ugo Citernesi  3 , Rosa Di Liddo  1
Affiliations
Review

Xeroderma Pigmentosum: General Aspects and Management

Monica Piccione et al. J Pers Med. .

Abstract

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.

Keywords: Dimericine; liposomes; nucleotide excision repair; personalized medicine; xeroderma pigmentosum.

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Conflict of interest statement

The authors have no conflict of interest to declare. All authors approved the contents of this manuscript.

Figures

Figure 1
Figure 1
Schematic representation of DNA repair machinery in normal (A) and XP (B) skin. (C–F) Some clinical features of UV-induced damage in XP patients are reported. (Created with BioRender.com (accessed on 10 September 2021)).
Figure 2
Figure 2
Schematic of the nucleotide excision repair (NER) pathway in humans (created with BioRender.com (accessed on 10 September 2021)). Mutations that occur in genes encoding for the proteins of this DNA-repair system are responsible for the onset of Xeroderma Pigmentosum.
Figure 3
Figure 3
Schematic representation of the intracellular pathways triggered by UV exposure (created with BioRender.com (accessed on 10 September 2021)).
See this image and copyright information in PMC

References

    1. Bradford P.T., Goldstein A.M., Tamura D., Khan S., Ueda T., Boyle J., Oh K.-S., Imoto K., Inui H., Moriwaki S.I., et al. Cancer and neurologic degeneration in xeroderma pigmentosum: Long term follow-up characterises the role of DNA repair. J. Med. Genet. 2011;48:168–176. doi: 10.1136/jmg.2010.083022. - DOI - PMC - PubMed
    1. DiGiovanna J.J., Kraemer K.H. Shining a Light on Xeroderma Pigmentosum. J. Investig. Dermatol. 2012;132:785–796. doi: 10.1038/jid.2011.426. - DOI - PMC - PubMed
    1. Brem R., Macpherson P., Guven M., Karran P. Oxidative stress induced by UVA photoactivation of the tryptophan UVB photoproduct 6-formylindolo[3,2-b]carbazole (FICZ ) inhibits nucleotide excision repair in human cells. Sci. Rep. 2017;7:1–9. doi: 10.1038/s41598-017-04614-8. - DOI - PMC - PubMed
    1. [(accessed on 10 September 2021)]. Available online: http://www.orphadata.org/cgi-bin/index.php.
    1. De Boer J., Hoeijmakers J.H.J. Nucleotide excision repair and human syndromes. Carcinogenesis. 2000;21:453–460. doi: 10.1093/carcin/21.3.453. - DOI - PubMed

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