首页 > 最新文献

International Journal of Dermatology and Venerology最新文献

英文 中文
Successful Treatment of Severe Pityriasis Rubra Pilaris with Cyclosporine A in An Infant: Erratum 环孢菌素A成功治疗婴儿严重毛状糠疹:勘误表
Q3 Medicine Pub Date : 2023-07-25 DOI: 10.1097/jd9.0000000000000328
{"title":"Successful Treatment of Severe Pityriasis Rubra Pilaris with Cyclosporine A in An Infant: Erratum","authors":"","doi":"10.1097/jd9.0000000000000328","DOIUrl":"https://doi.org/10.1097/jd9.0000000000000328","url":null,"abstract":"","PeriodicalId":34265,"journal":{"name":"International Journal of Dermatology and Venerology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46197828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
HMGB1 Inhibitor Effectively Alleviates Psoriasis-Like Lesions and Inflammatory Cytokines in K14-VEGF Transgenic Mice: Erratum HMGB1抑制剂有效缓解K14-VEGF转基因小鼠的牛皮癣样病变和炎症因子:勘误
Q3 Medicine Pub Date : 2023-07-25 DOI: 10.1097/jd9.0000000000000330
{"title":"HMGB1 Inhibitor Effectively Alleviates Psoriasis-Like Lesions and Inflammatory Cytokines in K14-VEGF Transgenic Mice: Erratum","authors":"","doi":"10.1097/jd9.0000000000000330","DOIUrl":"https://doi.org/10.1097/jd9.0000000000000330","url":null,"abstract":"","PeriodicalId":34265,"journal":{"name":"International Journal of Dermatology and Venerology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46210640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Liponeurofibroma: Erratum
Q3 Medicine Pub Date : 2023-07-25 DOI: 10.1097/jd9.0000000000000331
{"title":"Liponeurofibroma: Erratum","authors":"","doi":"10.1097/jd9.0000000000000331","DOIUrl":"https://doi.org/10.1097/jd9.0000000000000331","url":null,"abstract":"","PeriodicalId":34265,"journal":{"name":"International Journal of Dermatology and Venerology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44292156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Toe absence related to verrucous carcinoma: Erratum 疣状癌相关的足趾缺失:勘误表
Q3 Medicine Pub Date : 2023-07-25 DOI: 10.1097/jd9.0000000000000327
{"title":"Toe absence related to verrucous carcinoma: Erratum","authors":"","doi":"10.1097/jd9.0000000000000327","DOIUrl":"https://doi.org/10.1097/jd9.0000000000000327","url":null,"abstract":"","PeriodicalId":34265,"journal":{"name":"International Journal of Dermatology and Venerology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48151185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
EFFICACY OF 308 NM MONOCHROMATIC EXCIMER LAMP AND TOPICAL TACROLIMUS COMBINATION THERAPY IN LOCALIZED VITILIGO: A STUDY IN VIETNAM 308 nm单色准分子灯联合局部他克莫司治疗越南局部白癜风的疗效研究
Q3 Medicine Pub Date : 2023-07-03 DOI: 10.1097/jd9.0000000000000326
Thi Thu Hien Do, Thai Minh Hao Nguyen, T. Kanekura
Combination therapy of a 308 nm monochromatic excimer lamp and topical tacrolimus is widely used in the treatment of localized vitiligo; however, there are no published studies investigating this combination therapy in Vietnamese patients with vitiligo. This study was performed to evaluate the efficacy of combined excimer lamp and topical tacrolimus therapy for patients with localised vitiligo in Vietnam. We performed a pre-post clinical trial of 30 patients diagnosed with localised vitiligo in Vietnam. The patients were treated with an excimer lamp twice weekly and with topical tacrolimus twice daily. Effectiveness was evaluated based on the reduction rate of the vitiligo area scoring index (VASI). After 12 weeks of treatment, response was excellent or good in 16 patients (53.3%), moderate in 8 patients (26.7%), and poor in 6 patients (20%). The excellent or good responses increased over time from 3 patients (10%) at 6 weeks to 16 patients (53.3%) at 12 weeks (p=0.001). Earlier initiation of repigmentation was associated with a better response to treatment (r=-0.71; p=0.02). Patients with a perifollicular repigmentation pattern responded better to treatment than those with combined or marginal repigmentation patterns (p=0.003). Side effects occurred in 13 patients (43.3%), including burning (43.3%), pruritus (10%), and mild blistering (6.7%), and none of these interrupted the treatment. Combination therapy with excimer lamp and topical tacrolimus appears to be effective and safe in treating patients with localised vitiligo in Vietnam.
308 nm单色准分子灯联合局部他克莫司治疗局部白癜风被广泛应用;然而,在越南白癜风患者中,还没有发表过关于这种联合治疗的研究。本研究旨在评估准分子灯联合局部他克莫司治疗越南局部白癜风患者的疗效。我们在越南对30名被诊断为局部白癜风的患者进行了临床前后试验。患者接受准分子灯治疗,每周2次,局部使用他克莫司,每天2次。根据白癜风区域评分指数(VASI)的减少率评估疗效。治疗12周后,16例(53.3%)患者反应为优或良,8例(26.7%)为中度,6例(20%)为差。随着时间的推移,优异或良好的反应从6周时的3例(10%)增加到12周时的16例(53.3%)(p=0.001)。更早开始重新着色与更好的治疗反应相关(r=-0.71;p = 0.02)。毛囊周围重色素型患者对治疗的反应优于合并或边缘重色素型患者(p=0.003)。13例(43.3%)患者出现不良反应,包括灼烧(43.3%)、瘙痒(10%)和轻度起泡(6.7%),均未中断治疗。在越南,准分子灯和局部他克莫司联合治疗局部白癜风是有效和安全的。
{"title":"EFFICACY OF 308 NM MONOCHROMATIC EXCIMER LAMP AND TOPICAL TACROLIMUS COMBINATION THERAPY IN LOCALIZED VITILIGO: A STUDY IN VIETNAM","authors":"Thi Thu Hien Do, Thai Minh Hao Nguyen, T. Kanekura","doi":"10.1097/jd9.0000000000000326","DOIUrl":"https://doi.org/10.1097/jd9.0000000000000326","url":null,"abstract":"\u0000 \u0000 Combination therapy of a 308 nm monochromatic excimer lamp and topical tacrolimus is widely used in the treatment of localized vitiligo; however, there are no published studies investigating this combination therapy in Vietnamese patients with vitiligo. This study was performed to evaluate the efficacy of combined excimer lamp and topical tacrolimus therapy for patients with localised vitiligo in Vietnam.\u0000 \u0000 \u0000 \u0000 We performed a pre-post clinical trial of 30 patients diagnosed with localised vitiligo in Vietnam. The patients were treated with an excimer lamp twice weekly and with topical tacrolimus twice daily. Effectiveness was evaluated based on the reduction rate of the vitiligo area scoring index (VASI).\u0000 \u0000 \u0000 \u0000 After 12 weeks of treatment, response was excellent or good in 16 patients (53.3%), moderate in 8 patients (26.7%), and poor in 6 patients (20%). The excellent or good responses increased over time from 3 patients (10%) at 6 weeks to 16 patients (53.3%) at 12 weeks (p=0.001). Earlier initiation of repigmentation was associated with a better response to treatment (r=-0.71; p=0.02). Patients with a perifollicular repigmentation pattern responded better to treatment than those with combined or marginal repigmentation patterns (p=0.003). Side effects occurred in 13 patients (43.3%), including burning (43.3%), pruritus (10%), and mild blistering (6.7%), and none of these interrupted the treatment.\u0000 \u0000 \u0000 \u0000 Combination therapy with excimer lamp and topical tacrolimus appears to be effective and safe in treating patients with localised vitiligo in Vietnam.\u0000","PeriodicalId":34265,"journal":{"name":"International Journal of Dermatology and Venerology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48364199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Heterogeneity of participants in interventional trials of systemic sclerosis worldwide 全世界系统性硬化症介入试验参与者的异质性
Q3 Medicine Pub Date : 2023-06-30 DOI: 10.1097/jd9.0000000000000325
Li-Qing Shi, Shihang Zhou, Pinglang Ruan, Bo Zhang, Yue Xin, Cheng Zhao, X. Yao, Jing-Ru Tian, Qian-Jin Lu
Heterogeneity of participants in clinical trials distorts intervention efficacy. However, factors associated with participant heterogeneity in randomized clinical trials (RCTs) focusing on systemic sclerosis (SSc) are not clear. We conducted this systematic review to establish normative standards for future research and help develop management guidelines. Three databases and four registries were searched to identify characteristics of SSc RCTs across different countries. Risk of bias was assessed by the Cochrane Collaboration’s tool and logistic regression was performed to calculate crude and adjusted ORs. In total, 261 trials met our inclusion criteria. The quality of SSc RCTs worldwide was relatively poor, with no trend of improvement in recent years, and only 12.2% were ranked as having a low risk of bias. Trials with a low risk of bias as well as single-center, single-country, or open-label trials tended to have better participant adherence than trials with a high risk of bias and multiple-center, multiple-country, or double-blind trials. Interestingly, trial registration and primary outcome definition contributed to high withdrawal. National income was also relevant; participant adherence in high-income countries, but not in upper- and lower-middle-income countries, was significantly altered by different variables. Overall, the risk of bias, national income, and trial design may lead to participant heterogeneity of SSc RCTs and ultimately confound the general clinical utility of the results. Trials with a rigorous design and transparent conduction protocol are crucial for obtaining unbiased data that can serve as a reference and for maintaining the fundamental repeatability of SSc RCTs.
临床试验参与者的异质性扭曲了干预效果。然而,在系统性硬化症(SSc)的随机临床试验(rct)中,与参与者异质性相关的因素尚不清楚。我们进行了这一系统综述,为未来的研究建立规范标准,并帮助制定管理指南。检索了三个数据库和四个注册中心,以确定不同国家的SSc随机对照试验的特征。通过Cochrane协作工具评估偏倚风险,并进行逻辑回归计算粗or和调整or。总共有261项试验符合我们的纳入标准。世界范围内SSc rct的质量相对较差,近年来没有改善的趋势,只有12.2%被评为低偏倚风险。低偏倚风险的试验以及单中心、单一国家或开放标签试验往往比高偏倚风险的试验和多中心、多个国家或双盲试验具有更好的受试者依从性。有趣的是,试验注册和主要结局定义导致了高退出。国民收入也有关系;不同的变量显著改变了高收入国家而非中高收入国家的受试者依从性。总的来说,偏倚风险、国民收入和试验设计可能导致SSc随机对照试验的参与者异质性,并最终混淆结果的一般临床应用。具有严格设计和透明传导方案的试验对于获得可作为参考的公正数据和保持SSc随机对照试验的基本可重复性至关重要。
{"title":"Heterogeneity of participants in interventional trials of systemic sclerosis worldwide","authors":"Li-Qing Shi, Shihang Zhou, Pinglang Ruan, Bo Zhang, Yue Xin, Cheng Zhao, X. Yao, Jing-Ru Tian, Qian-Jin Lu","doi":"10.1097/jd9.0000000000000325","DOIUrl":"https://doi.org/10.1097/jd9.0000000000000325","url":null,"abstract":"\u0000 \u0000 Heterogeneity of participants in clinical trials distorts intervention efficacy. However, factors associated with participant heterogeneity in randomized clinical trials (RCTs) focusing on systemic sclerosis (SSc) are not clear. We conducted this systematic review to establish normative standards for future research and help develop management guidelines.\u0000 \u0000 \u0000 \u0000 Three databases and four registries were searched to identify characteristics of SSc RCTs across different countries. Risk of bias was assessed by the Cochrane Collaboration’s tool and logistic regression was performed to calculate crude and adjusted ORs.\u0000 \u0000 \u0000 \u0000 In total, 261 trials met our inclusion criteria. The quality of SSc RCTs worldwide was relatively poor, with no trend of improvement in recent years, and only 12.2% were ranked as having a low risk of bias. Trials with a low risk of bias as well as single-center, single-country, or open-label trials tended to have better participant adherence than trials with a high risk of bias and multiple-center, multiple-country, or double-blind trials. Interestingly, trial registration and primary outcome definition contributed to high withdrawal. National income was also relevant; participant adherence in high-income countries, but not in upper- and lower-middle-income countries, was significantly altered by different variables.\u0000 \u0000 \u0000 \u0000 Overall, the risk of bias, national income, and trial design may lead to participant heterogeneity of SSc RCTs and ultimately confound the general clinical utility of the results. Trials with a rigorous design and transparent conduction protocol are crucial for obtaining unbiased data that can serve as a reference and for maintaining the fundamental repeatability of SSc RCTs.\u0000","PeriodicalId":34265,"journal":{"name":"International Journal of Dermatology and Venerology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48666854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clear Cell Hidroacanthoma Simplex: A Case Report 单纯透明细胞棘皮瘤1例报告
Q3 Medicine Pub Date : 2023-06-27 DOI: 10.1097/jd9.0000000000000324
Ya-Kun Shao, Jianmin Chang
{"title":"Clear Cell Hidroacanthoma Simplex: A Case Report","authors":"Ya-Kun Shao, Jianmin Chang","doi":"10.1097/jd9.0000000000000324","DOIUrl":"https://doi.org/10.1097/jd9.0000000000000324","url":null,"abstract":"","PeriodicalId":34265,"journal":{"name":"International Journal of Dermatology and Venerology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47102697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analysis of the correlation of between CTLA4 rs231775 polymorphism and pemphigus in Xinjiang CTLA4-rs231775多态性与新疆天疱疮的相关性分析
Q3 Medicine Pub Date : 2023-06-19 DOI: 10.1097/jd9.0000000000000323
Fanhe Jiang, abudoureyimu Dilinuer, Lidan Mao, Jun Liang, X.‐J. Kang
{"title":"Analysis of the correlation of between CTLA4 rs231775 polymorphism and pemphigus in Xinjiang","authors":"Fanhe Jiang, abudoureyimu Dilinuer, Lidan Mao, Jun Liang, X.‐J. Kang","doi":"10.1097/jd9.0000000000000323","DOIUrl":"https://doi.org/10.1097/jd9.0000000000000323","url":null,"abstract":"","PeriodicalId":34265,"journal":{"name":"International Journal of Dermatology and Venerology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44258274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of Adverse Events Associated With Acitretin Treatment of Moderate-to-Severe Plaque Psoriasis: Based on an Observational, Single-Center Study in Shanghai, China 阿曲汀治疗中重度斑块型银屑病相关不良事件的影响:基于中国上海的一项单中心观察研究
Q3 Medicine Pub Date : 2023-06-01 DOI: 10.1097/JD9.0000000000000314
Xiaoyuan Zhong, Ying Li, Rui Ma, Xin Wang, Yingyuan Yu, N. Yu, Yangfeng Ding, Jiajing Lu, Yuling Shi
Objective: Acitretin is a widely used systemic retinoid that is to treat psoriasis but has significant variations in efficacy and adverse events (AEs) among individuals. This study aimed to determine the impact of AEs associated with acitretin treatment of moderate-to-severe plaque psoriasis on the Dermatology Life Quality Index (DLQI) and Hospital Anxiety and Depression Scale (HADS) scores. Methods: This prospective, observational, single-center study was conducted from March 2021 to June 2022 and analyzed 116 patients with moderate-to-severe plaque psoriasis treated with acitretin who were followed up for 12 weeks. The primary outcome was the incidence of AEs related to acitretin, and the secondary objective was to investigate the effect of AEs on the DLQI and HADS scores. The generalized linear models were used to assess the association between AEs related to acitretin and DLQI scores or HADS scores, and the association between the involved system/tissue and DLQI scores or HADS scores. Results: A final total of 45 patients were included in the analysis, and a total of 157 treatment-related AEs involving nine organs or systems were reported in 41 patients. The most common AE was skin- or mucosa-related, with 72 cumulative events in 31 patients. AEs also commonly affected the endocrine, digestive, and genitourinary systems. Compared with the group with 0–2 AEs, the group with 3–5 AEs had a significantly increased DLQI score by 5.49 points (95% CI, 1.47–9.51) (P = 0.0089). Compared with AEs involving 0 to 1 system, AEs affecting 2 to 3 systems resulted in a significant increase in the DLQI score by 5.75 points (95% CI, 1.67–9.83) (P = 0.0071). Generalized linear models showed no statistically significant associations between AEs and the HADS scores. Conclusion: Our study demonstrates a high incidence of acitretin-related AEs. These AEs may affect quality of life but rarely cause psychological problems such as anxiety and depression.
目的:阿维甲素是一种广泛应用于治疗银屑病的系统性类维甲酸,但在个体之间的疗效和不良事件(ae)存在显著差异。本研究旨在确定与阿维a治疗中重度斑块型银屑病相关的ae对皮肤病生活质量指数(DLQI)和医院焦虑抑郁量表(HADS)评分的影响。方法:这项前瞻性、观察性、单中心研究于2021年3月至2022年6月进行,对116例接受阿维a治疗的中重度斑块型银屑病患者进行了为期12周的随访。主要终点是与阿维素相关的不良事件发生率,次要目的是研究不良事件对DLQI和HADS评分的影响。采用广义线性模型评估与阿维素相关的ae与DLQI评分或HADS评分之间的关系,以及相关系统/组织与DLQI评分或HADS评分之间的关系。结果:最终共有45例患者被纳入分析,41例患者共报告了157例涉及9个器官或系统的治疗相关ae。最常见的AE与皮肤或粘膜相关,31例患者中有72例累积事件。ae通常也会影响内分泌、消化和泌尿生殖系统。与0 ~ 2 ae组相比,3 ~ 5 ae组DLQI评分显著提高5.49分(95% CI, 1.47 ~ 9.51) (P = 0.0089)。与涉及0 ~ 1个系统的ae相比,影响2 ~ 3个系统的ae导致DLQI评分显著提高5.75分(95% CI, 1.67 ~ 9.83) (P = 0.0071)。广义线性模型显示ae与HADS评分之间无统计学意义的关联。结论:本研究显示与乙酰维甲酸相关的不良反应发生率较高。这些不良事件可能会影响生活质量,但很少会引起焦虑和抑郁等心理问题。
{"title":"Impact of Adverse Events Associated With Acitretin Treatment of Moderate-to-Severe Plaque Psoriasis: Based on an Observational, Single-Center Study in Shanghai, China","authors":"Xiaoyuan Zhong, Ying Li, Rui Ma, Xin Wang, Yingyuan Yu, N. Yu, Yangfeng Ding, Jiajing Lu, Yuling Shi","doi":"10.1097/JD9.0000000000000314","DOIUrl":"https://doi.org/10.1097/JD9.0000000000000314","url":null,"abstract":"Objective: Acitretin is a widely used systemic retinoid that is to treat psoriasis but has significant variations in efficacy and adverse events (AEs) among individuals. This study aimed to determine the impact of AEs associated with acitretin treatment of moderate-to-severe plaque psoriasis on the Dermatology Life Quality Index (DLQI) and Hospital Anxiety and Depression Scale (HADS) scores. Methods: This prospective, observational, single-center study was conducted from March 2021 to June 2022 and analyzed 116 patients with moderate-to-severe plaque psoriasis treated with acitretin who were followed up for 12 weeks. The primary outcome was the incidence of AEs related to acitretin, and the secondary objective was to investigate the effect of AEs on the DLQI and HADS scores. The generalized linear models were used to assess the association between AEs related to acitretin and DLQI scores or HADS scores, and the association between the involved system/tissue and DLQI scores or HADS scores. Results: A final total of 45 patients were included in the analysis, and a total of 157 treatment-related AEs involving nine organs or systems were reported in 41 patients. The most common AE was skin- or mucosa-related, with 72 cumulative events in 31 patients. AEs also commonly affected the endocrine, digestive, and genitourinary systems. Compared with the group with 0–2 AEs, the group with 3–5 AEs had a significantly increased DLQI score by 5.49 points (95% CI, 1.47–9.51) (P = 0.0089). Compared with AEs involving 0 to 1 system, AEs affecting 2 to 3 systems resulted in a significant increase in the DLQI score by 5.75 points (95% CI, 1.67–9.83) (P = 0.0071). Generalized linear models showed no statistically significant associations between AEs and the HADS scores. Conclusion: Our study demonstrates a high incidence of acitretin-related AEs. These AEs may affect quality of life but rarely cause psychological problems such as anxiety and depression.","PeriodicalId":34265,"journal":{"name":"International Journal of Dermatology and Venerology","volume":"6 1","pages":"61 - 66"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44192736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Two Novel Mutations in FECH in a Patient With Erythropoietic Protoporphyria: A Case Report 2例促红细胞生成性原生卟啉症患者的FECH突变
Q3 Medicine Pub Date : 2023-06-01 DOI: 10.1097/JD9.0000000000000270
Q. Tan, H. Yang, Lili Lan, Ling Xie, Ru-Bing Lin, Chunlei Wan, Longnian Li
Introduction: Erythropoietic protoporphyria (EPP) is a rare photodermatosis mainly caused by deficiency of the enzyme ferrochelatase (FECH). We herein report a case of EPP associated with 2 novel mutations in FECH. Case presentation: A 15-year-old boy experienced pain and pruritus after sunlight exposure. He had occasional claret-red urine, hepatomegaly with increased alanine aminotransferase and aspartate aminotransferase levels, and an elevated free erythrocyte protoporphyrin level. He was treated with oral β-carotene and cholestyramine and avoidance of sunlight as much as possible. Discussion: Genome sequencing revealed 2 novel FECH mutations that had been inherited from his healthy parents. Pathogenicity analysis involving prediction using PolyPhen-2, SIFT, and Mutation Taster revealed that the 2 novel mutations were likely pathogenic. Although the patient’s parents were healthy, they each had one of these 2 mutations. This finding is consistent with previous reports stating that individuals carrying low-expression alleles can be asymptomatic. The pathogenesis of the disease caused by these 2 mutations requires verification by larger and more detailed studies. Conclusion: Although the precise role of these mutations in EPP is not clear, the findings in the present case expand the genotypic spectrum of the disease.
简介:红细胞生成性原生卟啉症(EPP)是一种罕见的光性皮肤病,主要由铁螯合酶(FECH)缺乏引起。我们在此报告一例EPP与2个新的FECH突变相关。病例介绍:一名15岁男孩在阳光照射后出现疼痛和瘙痒。偶有紫红色尿,肝肿大,谷丙转氨酶和天冬氨酸转氨酶水平升高,游离红细胞原卟啉水平升高。患者口服β-胡萝卜素和胆甾胺,并尽量避免阳光照射。讨论:基因组测序显示从他健康的父母那里遗传了2个新的FECH突变。利用polyphen2、SIFT和Mutation Taster进行预测的致病性分析显示,这两个新突变可能具有致病性。尽管病人的父母都很健康,但他们都有这两种突变中的一种。这一发现与先前的报道一致,即携带低表达等位基因的个体可能无症状。由这两种突变引起的疾病的发病机制需要更大规模和更详细的研究来验证。结论:虽然这些突变在EPP中的确切作用尚不清楚,但本病例的发现扩大了该病的基因型谱。
{"title":"Two Novel Mutations in FECH in a Patient With Erythropoietic Protoporphyria: A Case Report","authors":"Q. Tan, H. Yang, Lili Lan, Ling Xie, Ru-Bing Lin, Chunlei Wan, Longnian Li","doi":"10.1097/JD9.0000000000000270","DOIUrl":"https://doi.org/10.1097/JD9.0000000000000270","url":null,"abstract":"Introduction: Erythropoietic protoporphyria (EPP) is a rare photodermatosis mainly caused by deficiency of the enzyme ferrochelatase (FECH). We herein report a case of EPP associated with 2 novel mutations in FECH. Case presentation: A 15-year-old boy experienced pain and pruritus after sunlight exposure. He had occasional claret-red urine, hepatomegaly with increased alanine aminotransferase and aspartate aminotransferase levels, and an elevated free erythrocyte protoporphyrin level. He was treated with oral β-carotene and cholestyramine and avoidance of sunlight as much as possible. Discussion: Genome sequencing revealed 2 novel FECH mutations that had been inherited from his healthy parents. Pathogenicity analysis involving prediction using PolyPhen-2, SIFT, and Mutation Taster revealed that the 2 novel mutations were likely pathogenic. Although the patient’s parents were healthy, they each had one of these 2 mutations. This finding is consistent with previous reports stating that individuals carrying low-expression alleles can be asymptomatic. The pathogenesis of the disease caused by these 2 mutations requires verification by larger and more detailed studies. Conclusion: Although the precise role of these mutations in EPP is not clear, the findings in the present case expand the genotypic spectrum of the disease.","PeriodicalId":34265,"journal":{"name":"International Journal of Dermatology and Venerology","volume":"6 1","pages":"112 - 114"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61780344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
International Journal of Dermatology and Venerology
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1