Piccione Monica, Belloni Fortina Anna, Ferri Giulia, Andolina Gloria, Beretta Lorenzo, Cividini Andrea, De Marni Emanuele, Caroppo Francesca, Citernesi Ugo, Di Liddo Rosa
Department of Pharmaceutical and Pharmacological Sciences, University of Padova, 35131 Padova, Italy.
Pediatric Dermatology Unit, Department of Medicine DIMED, University of Padova, 35128 Padova, Italy.
J Pers Med. 2021 Nov 4;11(11):1146. doi: 10.3390/jpm11111146.
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.
着色性干皮病(XP)是一种罕见的遗传综合征,其DNA核苷酸切除修复存在缺陷。它的特征包括:(i)对紫外线(UV)引起的皮肤和眼睛损伤极度敏感;(ii)患多种皮肤肿瘤的风险很高;(iii)最严重形式的神经学改变。迄今为止,XP患者的治疗包括:(i)早期诊断;(ii)长期免受紫外线辐射,包括避免不必要的紫外线暴露、穿着防紫外线衣物以及使用外用防晒霜;(iii)皮肤癌的手术切除。目前尚无治愈性治疗方法。因此,在过去十年中,为了预防或延缓XP临床症状的进展,人们提出并测试了许多策略,在某些情况下,这些策略存在不良反应。本综述概述了XP发生发展的分子机制,并强调了多年来开发的临床方法的优缺点。作者的目的是让科学家们关注该病理学的关键方面,这些方面可能有不同的靶向目标。在此背景下,报告了对脂质体纳米载体概念背后过程的探索,以将注意力集中在脂质体技术在优化XP患者化学保护剂给药方面的潜力上。