UNASSIGNED:早期识别着色性干皮病对于最大程度地减少因暴露于紫外线辐射的有害影响而引起的并发症非常重要。这篇叙述性综述旨在使医生熟悉临床特征,色素干皮病的诊断和治疗。
UNASSIGNED:于2021年12月在PubMed临床查询中使用关键术语“着色性干皮病”进行了搜索。搜索策略包括所有临床试验,过去10年发表的观察性研究和评论。在本文的汇编中使用了从搜索中检索到的信息。
UASSIGNED:着色性干皮病是紫外线辐射引起的DNA修复异常和氧化性DNA损伤的一种情况,导致皮肤癌易感性增加.大约50%的着色性干皮病患者的光敏性增加,某些类型的着色性干皮病更容易发生眼部疾病和进行性神经变性,这取决于致病突变。在光敏性增加和特征性皮肤的患者中,应怀疑诊断。眼科和神经系统的发现。可以通过鉴定其中一个致病基因中的双等位基因突变来做出明确的诊断。严格和一致的避免阳光和保护以及早期发现和治疗癌前和恶性皮肤病变是管理的主要内容。光化性角化病的治疗选择包括冷冻疗法,局部咪喹莫特,外用5-氟尿嘧啶,化学剥离,切除,CO2激光重铺,分数/脉冲激光治疗,和光动力疗法。皮肤恶性肿瘤可以通过光动力疗法治疗,刮治和电干燥,或者手术切除.口服异维A酸,口服烟酰胺,局部咪喹莫特和局部氟尿嘧啶可用于预防皮肤恶性肿瘤。变黄病的治疗选择包括化学剥离,磨皮和激光重修。甲基纤维素滴眼液和柔软的紫外线防护隐形眼镜可用于保持角膜湿润并防止干燥性角膜炎的有害影响。研究疗法包括使用T4核酸内切酶-V脂质体洗剂和口服烟酰胺来降低光化性角化病和非黑素瘤皮肤癌的发生率,以及用于根治这种疾病的基因疗法。
未经授权:虽然目前还没有治疗色素性干皮病的方法,提高对病情的认识和早期诊断,其次是严格的防晒和保护以及优化管理,可以大大提高生活质量和预期寿命。
UNASSIGNED: Early recognition of xeroderma pigmentosum is important to minimize the complications arising from the harmful effects of exposure to ultraviolet radiation. This narrative
review aims to familiarize physicians with the clinical features, diagnosis and management of xeroderma pigmentosum.
UNASSIGNED: A search was conducted in December 2021 in PubMed Clinical Queries using the key term \"xeroderma pigmentosum\". The search strategy included all clinical trials, observational studies and reviews published within the past 10 years. The information retrieved from the search was used in the compilation of this article.
UNASSIGNED: Xeroderma pigmentosum is a condition of abnormal DNA repair of ultraviolet radiation-induced and oxidative DNA damage, which leads to increased skin cancer susceptibility. Approximately 50% of patients with xeroderma pigmentosum have increased photosensitivity and certain types of xeroderma pigmentosum are more prone to ocular disease and progressive neurodegeneration depending on the causative mutation. The diagnosis should be suspected in patients with increased photosensitivity and characteristic cutaneous, ophthalmological and neurological findings. A definite diagnosis can be made by the identification of biallelic mutation in one of the causative genes. Strict and consistent sun avoidance and protection and early detection and treatment of premalignant and malignant skin lesions are the mainstays of management. Treatment options for actinic keratosis include cryotherapy, topical imiquimod, topical 5-fluorouracil, chemical peeling, excision, CO2 laser resurfacing, fractional/pulsed laser therapy, and photodynamic therapy. Cutaneous malignancy can be treated by photodynamic therapy, curettage and electrodesiccation, or surgical excision. Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil can be used for the prevention of skin malignancy. Treatment options for poikiloderma include chemical peeling, dermabrasion and laser resurfacing. Methylcellulose eyedrops and soft ultraviolet-protective contact lenses may be used to keep the cornea moist and protect against the harmful effects of keratitis sicca. Investigational therapies include the use of T4 endonuclease-V liposome lotion and oral nicotinamide to reduce the rate of actinic keratoses and non-melanoma skin cancers and gene therapy for radical cure of this condition.
UNASSIGNED: Although currently there is no cure for xeroderma pigmentosum, increased awareness and early diagnosis of the condition, followed by rigorous sun avoidance and protection and optimal management, can dramatically improve the quality of life and life expectancy.