Xeroderma Pigmentosum: General Aspects and Management

被引:17
|
作者
Piccione, Monica [1 ]
Belloni Fortina, Anna [2 ]
Ferri, Giulia [3 ]
Andolina, Gloria [3 ]
Beretta, Lorenzo [3 ]
Cividini, Andrea [3 ]
De Marni, Emanuele [3 ]
Caroppo, Francesca [2 ]
Citernesi, Ugo [3 ]
Di Liddo, Rosa [1 ]
机构
[1] Univ Padua, Dept Pharmaceut & Pharmacol Sci, I-35131 Padua, Italy
[2] Univ Padua, Dept Med DIMED, Pediat Dermatol Unit, I-35128 Padua, Italy
[3] IRA Ist Ric Applicate SpA, I-20865 Usmate Velate, Italy
来源
JOURNAL OF PERSONALIZED MEDICINE | 2021年 / 11卷 / 11期
关键词
xeroderma pigmentosum; nucleotide excision repair; personalized medicine; liposomes; Dimericine; T4; ENDONUCLEASE-V; IMIQUIMOD 5-PERCENT CREAM; CYCLOBUTANE PYRIMIDINE DIMERS; NUCLEOTIDE EXCISION-REPAIR; UNSCHEDULED DNA-SYNTHESIS; COMPLEMENTATION GROUP-F; CELL-CYCLE ARREST; ULTRAVIOLET-RADIATION; SKIN-CANCER; ACTINIC KERATOSIS;
D O I
10.3390/jpm11111146
中图分类号
R19 [保健组织与事业(卫生事业管理)];
学科分类号
摘要
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.
引用
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页数:22
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