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Global Antimicrobial Susceptibility Patterns of Staphylococcus aureus in Atopic Dermatitis: A Systematic Review and Meta-Analysis. 特应性皮炎中金黄色葡萄球菌的全球抗菌药敏感性模式:系统回顾与元分析》。
IF 11.5 1区 医学 Q1 DERMATOLOGY Pub Date : 2024-09-25 DOI: 10.1001/jamadermatol.2024.3360
Itzel Guadalupe Elizalde-Jiménez, Fernando Gerardo Ruiz-Hernández, Silvia Angélica Carmona-Cruz, Elena Pastrana-Arellano, Alejandra Aquino-Andrade, Carolina Romo-González, Eduardo Arias-de la Garza, Neri Alejandro Álvarez-Villalobos, Maria Teresa García-Romero

Importance: Individuals with atopic dermatitis are frequently colonized and infected with Staphylococcus aureus. Empirical antibiotic therapy for individuals with atopic dermatitis is common, but data about the antimicrobial susceptibility profiles of S aureus strains isolated from these individuals are scarce for those living in particular geographic areas.

Objective: To determine the antimicrobial susceptibility of S aureus from individuals with atopic dermatitis and analyze differences according to the income level of the country of origin and the data collection period.

Data sources: A meta-analysis of the literature was performed from the inception of the included databases (MEDLINE, Embase, Web of Science, Scopus, and Cochrane) to June 20, 2023, using predetermined Medical Subject Headings.

Study selection: Studies were included if they reported antibiotic susceptibility profiles of 1 or more S aureus cutaneous isolates from individuals with atopic dermatitis. Articles written in English, Spanish, French, or German were included.

Data extraction and synthesis: Working in pairs, 6 of the authors conducted the data extraction. The guidelines from the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) were followed.

Main outcomes and measures: The outcome of interest was antimicrobial susceptibility.

Results: A total of 61 studies reported 4091 S aureus isolates from individuals with atopic dermatitis. For 4 of the 11 commonly used antibiotics (36.4%), antimicrobial susceptibility was 85% or less, including for methicillin (binomial proportion, 0.85 [95% CI, 0.76-0.91]), erythromycin (binomial proportion, 0.73 [95% CI, 0.61-0.83]), fusidic acid (binomial proportion, 0.80 [95% CI, 0.62-0.91]), and clindamycin (binomial proportion, 0.79 [95% CI, 0.65-0.89]). Most studies (46; 75.4%) were conducted in high-income countries. Antimicrobial susceptibility to erythromycin, methicillin, and trimethoprim and sulfamethoxazole was significantly lower in lower middle-income countries and upper middle-income countries. Regarding the temporal trends, 33 studies (54.1%) reported data collected from 1998 to 2010. Antimicrobial susceptibility patterns have not changed over time.

Conclusions and relevance: In this systematic review and meta-analysis, antimicrobial susceptibility of S aureus to β-lactams, erythromycin, clindamycin, and fusidic acid may be suboptimal for empirical use in individuals with atopic dermatitis. Significant differences in antimicrobial susceptibility patterns were found in high-income countries and in lower middle-income countries and upper middle-income countries for some antibiotics.

重要性:特应性皮炎患者经常定植和感染金黄色葡萄球菌。对特应性皮炎患者进行经验性抗生素治疗很常见,但从这些患者身上分离出的金黄色葡萄球菌菌株对特定地理区域的抗菌药敏感性数据却很少:目的:确定特应性皮炎患者金黄色葡萄球菌的抗菌药敏感性,并分析原籍国收入水平和数据收集时间的差异:采用预先确定的医学主题词,对从纳入数据库(MEDLINE、Embase、Web of Science、Scopus 和 Cochrane)开始到 2023 年 6 月 20 日期间的文献进行了荟萃分析:如果研究报告了来自特应性皮炎患者的一种或多种金黄色葡萄球菌皮肤分离物的抗生素敏感性概况,则纳入该研究。数据提取与综合:6 位作者两人一组进行数据提取。数据提取和综合:6 位作者两人一组进行数据提取,并遵循《系统综述和荟萃分析首选报告项目》(PRISMA)指南:主要结果和测量指标:相关结果为抗菌药物敏感性:共有 61 项研究报告了来自特应性皮炎患者的 4091 例金葡菌分离物。在 11 种常用抗生素中,有 4 种(36.4%)的抗菌药敏感性为 85% 或更低,其中包括甲氧西林(二项式比例,0.85 [95% CI,0.76-0.91])、红霉素(二项式比例,0.85 [95% CI,0.76-0.91])、氨苄西林(二项式比例,0.85 [95% CI,0.76-0.91])。91])、红霉素(二项比例,0.73 [95% CI,0.61-0.83])、夫西地酸(二项比例,0.80 [95% CI,0.62-0.91])和克林霉素(二项比例,0.79 [95% CI,0.65-0.89])。大多数研究(46;75.4%)在高收入国家进行。中低收入国家和中高收入国家对红霉素、甲氧西林、三甲氧苄氨嘧啶和磺胺甲噁唑的抗菌药物敏感性明显较低。关于时间趋势,33 项研究(54.1%)报告了 1998 年至 2010 年收集的数据。随着时间的推移,抗菌药敏感性模式没有发生变化:在这项系统回顾和荟萃分析中,金黄色葡萄球菌对β-内酰胺类、红霉素、克林霉素和夫西地酸的抗菌药敏感性可能低于特应性皮炎患者经验性用药的最佳敏感性。在高收入国家、中低收入国家和中高收入国家,某些抗生素的抗菌药敏感性模式存在显著差异。
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引用次数: 0
Clinical Application of New Risk-Based Cancer Screening in Patients With Dermatomyositis. 基于风险的新型癌症筛查在皮肌炎患者中的临床应用。
IF 11.5 1区 医学 Q1 DERMATOLOGY Pub Date : 2024-09-25 DOI: 10.1001/jamadermatol.2024.3349
Andrea D Maderal, Alisa Femia
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引用次数: 0
Treatment of Annular Elastolytic Giant Cell Granuloma With Tofacitinib. 托法替尼治疗环状溶解性巨细胞肉芽肿
IF 11.5 1区 医学 Q1 DERMATOLOGY Pub Date : 2024-09-25 DOI: 10.1001/jamadermatol.2024.3435
Tian-Yi Zhang, Tao Qu
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引用次数: 0
Dermatology Encounters After Solid Organ Transplant. 实体器官移植后的皮肤病治疗。
IF 11.5 1区 医学 Q1 DERMATOLOGY Pub Date : 2024-09-25 DOI: 10.1001/jamadermatol.2024.3173
Surya A Veerabagu, Kai-Ping Liao, Anokhi Jambusaria-Pahlajani, Lee Wheless, Mackenzie R Wehner
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引用次数: 0
Efficacy and Safety of Crisugabalin (HSK16149) in Adults with Postherpetic Neuralgia: A Phase 3 Randomized Clinical Trial. 克里斯卡巴林(HSK16149)对成人带状疱疹后神经痛的疗效和安全性:3期随机临床试验。
IF 11.5 1区 医学 Q1 DERMATOLOGY Pub Date : 2024-09-25 DOI: 10.1001/jamadermatol.2024.3410
Daying Zhang, Tiechi Lei, Lanying Qin, Chenyu Li, Xuewu Lin, Huiping Wang, Guoqiang Zhang, Shoumin Zhang, Kemei Shi, Linfeng Li, Zhenling Yang, Xiumin Yang, Xiaohong Ba, Ying Gao, Zhuobo Zhang, Guonian Wang, Liming Wu, Yaping Wang, Yu Wang, Shoumin Zhu, Jihai Shi, Zhijian Ye, Chunjun Yang, Changyi Liu, Tong Zhang, Shousi Lu, Nan Yu, Xiangkui Li, Xiuping Han, Xiaoyan Chen, Li Wan, Zhigang Cheng, Nianyue Bai, Zhehu Jin, Chunshui Yu, Weiyi Zhang, Jianyun Lu, Dongmei Wang, Hui Sun, Wenzhong Wu, Pingping Qin, Zhiying Feng, Rixin Chen, Tangde Zhang, Dong Yang, Wenhao Yin, Jianglin Zhang, Xin Li, Fangqiong Li, Tingting Wu, Qianjin Lu

Importance: China carries a heavy burden of postherpetic neuralgia, with an unmet need for novel drugs with greater efficacy and less prominent neurotoxic effects than existing calcium channel ligands.

Objective: To investigate the efficacy and safety of crisugabalin, an oral calcium channel α2δ-1 subunit ligand, for postherpetic neuralgia.

Design, setting, and participants: This randomized clinical trial, carried out between November 9, 2021, and January 5, 2023, at 48 tertiary care centers across China had 2 parts. Part 1 was a phase 3, multicenter, randomized, double-blind, placebo-controlled, parallel-group study consisting of a 2-week screening period, a 7-day run-in period, and a 12-week double-blind treatment period. Part 2 was a 14-week open-label extension study. Investigators, statisticians, trial clinicians, and patients were blinded to trial group assignments. Participants included adults with postherpetic neuralgia with an average daily pain score (ADPS) of at least 4 on the 11-point Numeric Pain Rating Scale over the preceding week, with the exclusion of patients with pain not controlled by prior therapy with pregabalin (≥300 mg/d) or gabapentin (≥1200 mg/d).

Interventions: Patients were randomized 1:1:1 to receive crisugabalin, 20 mg twice daily (ie, 40 mg/d), and crisugabalin, 40 mg twice daily (ie, 80 mg/d), or placebo for 12 weeks. Eligible patients received crisugabalin, 40 mg, twice daily during extension.

Main outcome and measure: The primary efficacy end point was the change from baseline in ADPS at week 12.

Results: The study enrolled 366 patients (121 patients receiving crisugabalin, 40 mg/d; 121 patients receiving crisugabalin, 80 mg/d; 124 patients receiving placebo; median [IQR] age, 63.0 [56.0-69.0] years; 193 men [52.7%]). At week 12, the least squares mean (SD) change from baseline in ADPS was -2.2 (0.2) for crisugabalin, 40 mg/d, and -2.6 (0.2) for crisugabalin, 80 mg/d, vs -1.1 (0.2) for placebo, with a least squares mean difference of -1.1 (95% CI, -1.6 to -0.7; P < .001) and -1.5 (-95% CI, -2.0 to -1.0; P < .001) vs placebo, respectively. No new safety concerns emerged.

Conclusions and relevance: Crisugabalin, 40 mg/d, or crisugabalin, 80 mg/d, was well tolerated and demonstrated a statistically significant improvement in ADPS over placebo.

Trial registration: ClinicalTrials.gov Identifier: NCT05140863.

重要性中国是带状疱疹后遗神经痛的重灾区,与现有的钙通道配体相比,需要疗效更好、神经毒性作用更小的新型药物:目的:研究口服钙通道α2δ-1亚基配体药物环加巴林治疗带状疱疹后神经痛的疗效和安全性:这项随机临床试验于2021年11月9日至2023年1月5日在全国48家三级医疗中心进行,分为两部分。第一部分是一项3期、多中心、随机、双盲、安慰剂对照、平行组研究,包括2周筛选期、7天磨合期和12周双盲治疗期。第二部分是一项为期 14 周的开放标签扩展研究。研究人员、统计人员、试验临床医生和患者对试验组别分配均为盲法。参与者包括患有带状疱疹后遗神经痛的成人患者,其前一周的平均每日疼痛评分(ADPS)在11点数字疼痛评分量表中至少达到4分,但不包括之前使用普瑞巴林(≥300毫克/天)或加巴喷丁(≥1200毫克/天)治疗后疼痛未得到控制的患者:患者按1:1:1的比例随机接受 crisugabalin(20 毫克,每天两次(即 40 毫克/天))和 crisugabalin(40 毫克,每天两次(即 80 毫克/天))或安慰剂治疗,为期 12 周。符合条件的患者在延长期内每天两次服用 40 毫克的 crisugabalin。主要结果和测量指标:主要疗效终点是第 12 周时 ADPS 与基线相比的变化:研究共招募了 366 名患者(121 名患者接受 crisugabalin 治疗,40 毫克/天;121 名患者接受 crisugabalin 治疗,80 毫克/天;124 名患者接受安慰剂治疗;中位数 [IQR] 年龄为 63.0 [56.0-69.0] 岁;193 名男性 [52.7%])。第 12 周时,与基线相比,40 毫克/天的 crisugabalin 和 80 毫克/天的 crisugabalin ADPS 的最小平方均值(SD)变化分别为-2.2(0.2)和-2.6(0.2),而安慰剂为-1.1(0.2),最小平方均值差异为-1.1(95% CI,-1.6 至-0.7;P 结论和相关性:40毫克/天或80毫克/天瑞舒加巴林的耐受性良好,与安慰剂相比,对ADPS的改善具有统计学意义:试验注册:ClinicalTrials.gov Identifier:试验注册:ClinicalTrials.gov Identifier:NCT05140863。
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引用次数: 0
Home- vs Office-Based Narrowband UV-B Phototherapy for Patients With Psoriasis: The LITE Randomized Clinical Trial. 针对银屑病患者的家庭与办公室窄带紫外线-B 光疗:LITE 随机临床试验。
IF 11.5 1区 医学 Q1 DERMATOLOGY Pub Date : 2024-09-25 DOI: 10.1001/jamadermatol.2024.3897
Joel M Gelfand, April W Armstrong, Henry W Lim, Steven R Feldman, Sandra M Johnson, W C Cole Claiborne, Robert E Kalb, Jeannette Jakus, Aaron R Mangold, R Hal Flowers, Tina Bhutani, John R Durkin, Jerry Bagel, Scott Fretzin, Michael P Sheehan, James Krell, Margo Reeder, Jessica Kaffenberger, Francisca Kartono, Junko Takeshita, Alisha M Bridges, Eric Fielding, Umbereen S Nehal, Kenneth L Schaecher, Leah M Howard, Guy S Eakin, Suzette Báez, Brooke E Bishop, Robert C Fitzsimmons, Maryte Papadopoulos, William B Song, Kristin A Linn, Rebecca A Hubbard, Daniel B Shin, Kristina Callis Duffin
<p><strong>Importance: </strong>Office-based phototherapy is cost-effective for psoriasis but difficult to access. Home-based phototherapy is patient preferred but has limited clinical data, particularly in patients with darker skin.</p><p><strong>Objective: </strong>To compare the effectiveness of home- vs office-based narrowband UV-B phototherapy for psoriasis.</p><p><strong>Design, setting, and participants: </strong>The Light Treatment Effectiveness study was an investigator-initiated, pragmatic, open-label, parallel-group, multicenter, noninferiority randomized clinical trial embedded in routine care at 42 academic and private clinical dermatology practices in the US. Enrollment occurred from March 1, 2019, to December 4, 2023, with follow-up through June 2024. Participants were 12 years and older with plaque or guttate psoriasis who were candidates for home- and office-based phototherapy.</p><p><strong>Interventions: </strong>Participants were randomized to receive a home narrowband UV-B machine with guided mode dosimetry or routine care with office-based narrowband UV-B for 12 weeks, followed by an additional 12-week observation period.</p><p><strong>Main outcomes and measures: </strong>The coprimary effectiveness outcomes were Physician Global Assessment (PGA) dichotomized as clear/almost clear skin (score of ≤1) at the end of the intervention period and Dermatology Life Quality Index (DLQI) score of 5 or lower (no to small effect on quality of life) at week 12.</p><p><strong>Results: </strong>Of 783 patients enrolled (mean [SD] age, 48.0 [15.5] years; 376 [48.0%] female), 393 received home-based phototherapy and 390 received office-based phototherapy, with 350 (44.7%) having skin phototype (SPT) I/II, 350 (44.7%) having SPT III/IV, and 83 (10.6%) having SPT V/VI. A total of 93 patients (11.9%) were receiving systemic treatment. At baseline, mean (SD) PGA was 2.7 (0.8) and DLQI was 12.2 (7.2). At week 12, 129 patients (32.8%) receiving home-based phototherapy and 100 patients (25.6%) receiving office-based phototherapy achieved clear/almost clear skin, and 206 (52.4%) and 131 (33.6%) achieved DLQI of 5 or lower, respectively. Home-based phototherapy was noninferior to office-based phototherapy for PGA and DLQI in the overall population and across all SPTs. Home-based phototherapy, compared to office-based phototherapy, was associated with better treatment adherence (202 patients [51.4%] vs 62 patients [15.9%]; P < .001), lower burden of indirect costs to patients, and more episodes of persistent erythema (466 of 7957 treatments [5.9%] vs 46 of 3934 treatments [1.2%]; P < .001). Both treatments were well tolerated with no discontinuations due to adverse events.</p><p><strong>Conclusions and relevance: </strong>In this randomized clinical trial, home-based phototherapy was as effective as office-based phototherapy for plaque or guttate psoriasis in everyday clinical practice and had less burden to patients.</p><p><strong>Trial registration:
重要性:办公室光疗治疗银屑病具有成本效益,但很难获得。家庭光疗是患者的首选,但临床数据有限,尤其是对肤色较深的患者:比较家用窄带 UV-B 光疗与办公室光疗对银屑病的疗效:光疗有效性研究是一项由研究者发起的、务实的、开放标签、平行组、多中心、非劣效随机临床试验,在美国 42 家学术和私人临床皮肤科诊所的常规护理中进行。入组时间为 2019 年 3 月 1 日至 2023 年 12 月 4 日,随访至 2024 年 6 月。参与者年龄在12岁及以上,患有斑块状或凹陷型银屑病,适合接受家庭和诊室光疗:干预措施:参与者被随机分配接受带有引导模式剂量计的家用窄带紫外线-B 光疗机治疗,或接受为期 12 周的诊室窄带紫外线-B 光疗常规护理,然后再进行为期 12 周的观察:主要疗效结果:主要疗效结果为干预期结束时的医生总体评估(PGA)二分法,即皮肤清晰/基本清晰(评分≤1),以及第12周时皮肤科生活质量指数(DLQI)评分为5分或更低(对生活质量无影响或影响较小):在 783 名患者(平均 [SD] 年龄为 48.0 [15.5] 岁;376 [48.0%] 为女性)中,393 人接受了家庭光疗,390 人接受了办公室光疗,其中 350 人(44.7%)为皮肤光型 (SPT) I/II,350 人(44.7%)为 SPT III/IV,83 人(10.6%)为 SPT V/VI。共有 93 名患者(11.9%)正在接受系统治疗。基线时,平均(标清)PGA 为 2.7(0.8),DLQI 为 12.2(7.2)。第 12 周时,接受家庭光疗的 129 名患者(32.8%)和接受诊室光疗的 100 名患者(25.6%)的皮肤达到透明/基本透明,DLQI 为 5 或更低的患者分别有 206 名(52.4%)和 131 名(33.6%)。在总体人群和所有 SPTs 中,家用光疗在 PGA 和 DLQI 方面均不劣于诊室光疗。与诊室光疗相比,家庭光疗的治疗依从性更好(202 名患者 [51.4%] vs 62 名患者 [15.9%];P 结论及意义:在这项随机临床试验中,在日常临床实践中,家庭光疗与诊室光疗对斑块状或凹陷型银屑病同样有效,而且对患者造成的负担更小:试验注册:ClinicalTrials.gov Identifier:试验注册:ClinicalTrials.gov Identifier:NCT03726489。
{"title":"Home- vs Office-Based Narrowband UV-B Phototherapy for Patients With Psoriasis: The LITE Randomized Clinical Trial.","authors":"Joel M Gelfand, April W Armstrong, Henry W Lim, Steven R Feldman, Sandra M Johnson, W C Cole Claiborne, Robert E Kalb, Jeannette Jakus, Aaron R Mangold, R Hal Flowers, Tina Bhutani, John R Durkin, Jerry Bagel, Scott Fretzin, Michael P Sheehan, James Krell, Margo Reeder, Jessica Kaffenberger, Francisca Kartono, Junko Takeshita, Alisha M Bridges, Eric Fielding, Umbereen S Nehal, Kenneth L Schaecher, Leah M Howard, Guy S Eakin, Suzette Báez, Brooke E Bishop, Robert C Fitzsimmons, Maryte Papadopoulos, William B Song, Kristin A Linn, Rebecca A Hubbard, Daniel B Shin, Kristina Callis Duffin","doi":"10.1001/jamadermatol.2024.3897","DOIUrl":"https://doi.org/10.1001/jamadermatol.2024.3897","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Importance: &lt;/strong&gt;Office-based phototherapy is cost-effective for psoriasis but difficult to access. Home-based phototherapy is patient preferred but has limited clinical data, particularly in patients with darker skin.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To compare the effectiveness of home- vs office-based narrowband UV-B phototherapy for psoriasis.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Design, setting, and participants: &lt;/strong&gt;The Light Treatment Effectiveness study was an investigator-initiated, pragmatic, open-label, parallel-group, multicenter, noninferiority randomized clinical trial embedded in routine care at 42 academic and private clinical dermatology practices in the US. Enrollment occurred from March 1, 2019, to December 4, 2023, with follow-up through June 2024. Participants were 12 years and older with plaque or guttate psoriasis who were candidates for home- and office-based phototherapy.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Interventions: &lt;/strong&gt;Participants were randomized to receive a home narrowband UV-B machine with guided mode dosimetry or routine care with office-based narrowband UV-B for 12 weeks, followed by an additional 12-week observation period.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main outcomes and measures: &lt;/strong&gt;The coprimary effectiveness outcomes were Physician Global Assessment (PGA) dichotomized as clear/almost clear skin (score of ≤1) at the end of the intervention period and Dermatology Life Quality Index (DLQI) score of 5 or lower (no to small effect on quality of life) at week 12.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Of 783 patients enrolled (mean [SD] age, 48.0 [15.5] years; 376 [48.0%] female), 393 received home-based phototherapy and 390 received office-based phototherapy, with 350 (44.7%) having skin phototype (SPT) I/II, 350 (44.7%) having SPT III/IV, and 83 (10.6%) having SPT V/VI. A total of 93 patients (11.9%) were receiving systemic treatment. At baseline, mean (SD) PGA was 2.7 (0.8) and DLQI was 12.2 (7.2). At week 12, 129 patients (32.8%) receiving home-based phototherapy and 100 patients (25.6%) receiving office-based phototherapy achieved clear/almost clear skin, and 206 (52.4%) and 131 (33.6%) achieved DLQI of 5 or lower, respectively. Home-based phototherapy was noninferior to office-based phototherapy for PGA and DLQI in the overall population and across all SPTs. Home-based phototherapy, compared to office-based phototherapy, was associated with better treatment adherence (202 patients [51.4%] vs 62 patients [15.9%]; P &lt; .001), lower burden of indirect costs to patients, and more episodes of persistent erythema (466 of 7957 treatments [5.9%] vs 46 of 3934 treatments [1.2%]; P &lt; .001). Both treatments were well tolerated with no discontinuations due to adverse events.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions and relevance: &lt;/strong&gt;In this randomized clinical trial, home-based phototherapy was as effective as office-based phototherapy for plaque or guttate psoriasis in everyday clinical practice and had less burden to patients.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Trial registration:","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":null,"pages":null},"PeriodicalIF":11.5,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11425190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142346994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Inherited Basaloid Neoplasms Associated With SUFU Pathogenic Variants 与 SUFU 致病变体有关的遗传性基底细胞瘤
IF 10.9 1区 医学 Q1 DERMATOLOGY Pub Date : 2024-09-18 DOI: 10.1001/jamadermatol.2024.3315
James J. Abbott, Angela J. Jiang, Rama Godse, Sarah Ahmed, Stephen C. Senft, Melissa A. Wilson, Justine V. Cohen, Tara C. Mitchell, Temitayo A. Ogunleye, H. William Higgins, Thuzar M. Shin, Christopher J. Miller, Jacquelyn J. Roth, Salvatore F. Priore, Leslie Castelo-Soccio, Rosalie Elenitsas, John T. Seykora, Katherine L. Nathanson, Emily Y. Chu
ImportanceGermline SUFU pathogenic variants (PVs) have previously been associated with basal cell nevus syndrome (BCNS) and multiple infundibulocystic basal cell carcinoma syndrome; however, a broader spectrum of cutaneous findings in patients with SUFU PVs has not been well delineated.ObjectiveTo define the clinical and histopathologic spectrum of cutaneous findings in patients with germline SUFU PVs.Design, Setting, and ParticipantsThis case series was conducted in multiple US academic dermatology, medical genetics, and medical oncology clinics between July 2014 and July 2022. The study included patients with confirmed germline SUFU PVs who were evaluated by a dermatologist. The analysis took place from March to September 2023.Main Outcomes and MeasuresHistopathologic evaluation of skin biopsies with or without immunohistochemical staining, and targeted next-generation sequencing (NGS) on tumor specimens.ResultsAll 5 patients were women. The mean (range) age at presentation was 50.2 (31-68) years, with skin manifestations initially appearing in the fourth to sixth decades of life. None had keratocystic odontogenic tumors. A total of 29 skin pathology specimens from the 5 patients were reviewed; of these, 3 (10.3%) were diagnosed as basaloid follicular hamartomas (BFHs), 10 (34.5%) classified as infundibulocystic basal cell carcinomas (iBCCs), 6 (20.7%) classified as nodular basal cell carcinomas (nBCCs), and 1 (3.4%) as infiltrative basal cell carcinoma (BCC). Targeted NGS studies on tumor specimens suggest that an increased number of UV-signature variants is associated with basal cell carcinomas compared with more indolent basaloid follicular hamartomas.Conclusions and RelevancePatients with germline SUFU PVs may present with multiple indolent basaloid neoplasms in addition to conventional basal cell carcinomas, typically appearing in the fourth to sixth decades of life. Although there are overlapping clinical manifestations, these findings help to differentiate the clinical syndrome associated with SUFU PVs from PTCH1 BCNS. Awareness of the clinicopathologic spectrum of SUFU-associated basaloid neoplasms is important for dermatologists and dermatopathologists because many (although not all) of these lesions are indolent and do not require aggressive surgical treatment. Importantly, because SUFU lies downstream of the protein smoothened, vismodegib and other smoothened inhibitors are unlikely to be effective therapies in this subset of patients.
重要性种系 SUFU 致病变异体 (PV) 以前曾与基底细胞痣综合征 (BCNS) 和多发性基底细胞癌综合征相关;但是,SUFU PV 患者更广泛的皮肤发现尚未得到很好的界定。设计、设置和参与者这项病例系列研究于 2014 年 7 月至 2022 年 7 月期间在美国多家皮肤病学、医学遗传学和肿瘤内科学诊所进行。研究对象包括经皮肤科医生评估确诊的种系 SUFU PV 患者。主要结果和测量方法对皮肤活检进行组织病理学评估,进行或不进行免疫组化染色,并对肿瘤标本进行有针对性的新一代测序(NGS)。发病时的平均年龄(范围)为 50.2(31-68)岁,皮肤表现最初出现在生命的第四至第六个十年。没有人患有角化囊性牙源性肿瘤。研究人员对 5 名患者的 29 份皮肤病理标本进行了复查,其中 3 份(10.3%)被诊断为基底型滤泡状癌 (BFH),10 份(34.5%)被归类为基底细胞内囊癌 (iBCC),6 份(20.7%)被归类为结节型基底细胞癌 (nBCC),1 份(3.4%)被归类为浸润型基底细胞癌 (BCC)。对肿瘤标本进行的靶向 NGS 研究表明,与较不活跃的基底细胞性腺泡状突变相比,基底细胞癌与 UV 信号变体数量的增加有关。虽然临床表现存在重叠,但这些发现有助于将与 SUFU PV 相关的临床综合征与 PTCH1 BCNS 区分开来。了解与 SUFU 相关的基底细胞瘤的临床病理范围对皮肤科医生和皮肤病理学家来说非常重要,因为这些病变中的许多(尽管不是全部)都是隐匿性的,不需要积极的手术治疗。重要的是,由于 SUFU 位于平滑肌蛋白的下游,vismodegib 和其他平滑肌蛋白抑制剂不太可能成为这类患者的有效疗法。
{"title":"Inherited Basaloid Neoplasms Associated With SUFU Pathogenic Variants","authors":"James J. Abbott, Angela J. Jiang, Rama Godse, Sarah Ahmed, Stephen C. Senft, Melissa A. Wilson, Justine V. Cohen, Tara C. Mitchell, Temitayo A. Ogunleye, H. William Higgins, Thuzar M. Shin, Christopher J. Miller, Jacquelyn J. Roth, Salvatore F. Priore, Leslie Castelo-Soccio, Rosalie Elenitsas, John T. Seykora, Katherine L. Nathanson, Emily Y. Chu","doi":"10.1001/jamadermatol.2024.3315","DOIUrl":"https://doi.org/10.1001/jamadermatol.2024.3315","url":null,"abstract":"ImportanceGermline <jats:italic>SUFU</jats:italic> pathogenic variants (PVs) have previously been associated with basal cell nevus syndrome (BCNS) and multiple infundibulocystic basal cell carcinoma syndrome; however, a broader spectrum of cutaneous findings in patients with <jats:italic>SUFU</jats:italic> PVs has not been well delineated.ObjectiveTo define the clinical and histopathologic spectrum of cutaneous findings in patients with germline <jats:italic>SUFU</jats:italic> PVs.Design, Setting, and ParticipantsThis case series was conducted in multiple US academic dermatology, medical genetics, and medical oncology clinics between July 2014 and July 2022. The study included patients with confirmed germline <jats:italic>SUFU</jats:italic> PVs who were evaluated by a dermatologist. The analysis took place from March to September 2023.Main Outcomes and MeasuresHistopathologic evaluation of skin biopsies with or without immunohistochemical staining, and targeted next-generation sequencing (NGS) on tumor specimens.ResultsAll 5 patients were women. The mean (range) age at presentation was 50.2 (31-68) years, with skin manifestations initially appearing in the fourth to sixth decades of life. None had keratocystic odontogenic tumors. A total of 29 skin pathology specimens from the 5 patients were reviewed; of these, 3 (10.3%) were diagnosed as basaloid follicular hamartomas (BFHs), 10 (34.5%) classified as infundibulocystic basal cell carcinomas (iBCCs), 6 (20.7%) classified as nodular basal cell carcinomas (nBCCs), and 1 (3.4%) as infiltrative basal cell carcinoma (BCC). Targeted NGS studies on tumor specimens suggest that an increased number of UV-signature variants is associated with basal cell carcinomas compared with more indolent basaloid follicular hamartomas.Conclusions and RelevancePatients with germline <jats:italic>SUFU</jats:italic> PVs may present with multiple indolent basaloid neoplasms in addition to conventional basal cell carcinomas, typically appearing in the fourth to sixth decades of life. Although there are overlapping clinical manifestations, these findings help to differentiate the clinical syndrome associated with <jats:italic>SUFU</jats:italic> PVs from <jats:italic>PTCH1</jats:italic> BCNS. Awareness of the clinicopathologic spectrum of <jats:italic>SUFU</jats:italic>-associated basaloid neoplasms is important for dermatologists and dermatopathologists because many (although not all) of these lesions are indolent and do not require aggressive surgical treatment. Importantly, because SUFU lies downstream of the protein smoothened, vismodegib and other smoothened inhibitors are unlikely to be effective therapies in this subset of patients.","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":null,"pages":null},"PeriodicalIF":10.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Precocious Puberty Among Children and Adolescents With Hidradenitis Suppurativa. 患有化脓性扁桃体炎的儿童和青少年中的性早熟。
IF 11.5 1区 医学 Q1 DERMATOLOGY Pub Date : 2024-09-18 DOI: 10.1001/jamadermatol.2024.3104
Nicole Mastacouris, Bria Midgette, Andrew Strunk, Amit Garg
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引用次数: 0
Estimating Costs in Beremagene Geperpavec for Dystrophic Epidermolysis Bullosa-Reply. 估算Beremagene Geperpavec治疗营养不良性表皮松解症的成本。
IF 11.5 1区 医学 Q1 DERMATOLOGY Pub Date : 2024-09-18 DOI: 10.1001/jamadermatol.2024.2970
Adam J N Raymakers, Aaron S Kesselheim, William B Feldman
{"title":"Estimating Costs in Beremagene Geperpavec for Dystrophic Epidermolysis Bullosa-Reply.","authors":"Adam J N Raymakers, Aaron S Kesselheim, William B Feldman","doi":"10.1001/jamadermatol.2024.2970","DOIUrl":"https://doi.org/10.1001/jamadermatol.2024.2970","url":null,"abstract":"","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":null,"pages":null},"PeriodicalIF":11.5,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142287608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Treatment of Pembrolizumab-Induced Mucocutaneous Lichen Planus With Metronidazole 用甲硝唑治疗彭博利珠单抗诱发的皮肤黏膜扁平苔藓
IF 10.9 1区 医学 Q1 DERMATOLOGY Pub Date : 2024-09-18 DOI: 10.1001/jamadermatol.2024.2722
Sierra Parkinson, Sabah Osmani, Paul B. Googe, Donna A. Culton
This case report describes a man in his 50s with a diffuse pruritic rash after initiating treatment with pembrolizumab and enfortumab vedotin for metastatic urothelial carcinoma.
本病例报告描述了一名 50 多岁的男性在开始使用 pembrolizumab 和 enfortumab vedotin 治疗转移性尿路上皮癌后出现弥漫性瘙痒皮疹的情况。
{"title":"Treatment of Pembrolizumab-Induced Mucocutaneous Lichen Planus With Metronidazole","authors":"Sierra Parkinson, Sabah Osmani, Paul B. Googe, Donna A. Culton","doi":"10.1001/jamadermatol.2024.2722","DOIUrl":"https://doi.org/10.1001/jamadermatol.2024.2722","url":null,"abstract":"This case report describes a man in his 50s with a diffuse pruritic rash after initiating treatment with pembrolizumab and enfortumab vedotin for metastatic urothelial carcinoma.","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":null,"pages":null},"PeriodicalIF":10.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","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
JAMA dermatology
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