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Validation of a Dermatoscopy-Based Algorithm for the Diagnosis of Acral Melanoma. 验证基于皮肤镜的尖锐湿疣黑色素瘤诊断算法。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-01-01 Epub Date: 2024-10-05 DOI: 10.1159/000541591
Christoph Müller, Harald Kittler, Philipp Tschandl, Christoph Rinner, Marie-Luise Grausenburger, Athanassios Kyrgidis, Hiroshi Koga, Elvira Moscarella, Zoe Apalla, Alessandro Di Stefani, Ken Kobayashi, Elisabeth Lazaridou, Caterina Longo, Alice Phan, Toshiaki Saida, Elena Sotiriou, Masaru Tanaka, Luc Thomas, Iris Zalaudek, Giuseppe Argenziano, Aimilios Lallas

Introduction: Diagnosis of acral melanocytic lesions can be challenging. The BRAAFF checklist was introduced as a tool to help differentiate between acral nevi and melanoma but has not been validated.

Methods: We asked raters with varying expertise in dermatoscopy to diagnose dermatoscopic images of 533 acral nevi and 144 melanomas via an online platform with and without use of the BRAAFF checklist. From the ratings, we calculated sensitivity, specificity, and interrater agreement. Additionally, a new simplified version of the checklist was also tested.

Results: We collected 6,880 ratings from 175 readers. The BRAAFF checklist achieved a sensitivity of 92.5% and a specificity of 65.0%, which was similar to diagnosis from pattern recognition (sensitivity 90.0%, specificity: 72.1%). Interrater agreement for the BRAAFF criteria ranged from fair to moderate, with lowest agreement for parallel ridge and fibrillar pattern (alpha = 0.31) and highest for asymmetry of colors and structures (alpha = 0.46). Agreement and diagnostic accuracy were higher for more experienced readers. A simplified version with only two criteria achieved similar sensitivity (95.0%) and lower specificity (60.0%) as the original BRAAFF checklist.

Conclusion: The BRAAFF checklist is a useful tool for the diagnosis of melanocytic acral lesions with acceptable sensitivity and reasonable specificity but is not superior to pattern recognition. A simplified version of the checklist could be easier to use with equal sensitivity while exhibiting a modest reduction in specificity.

简介尖锐湿疣黑色素细胞病变的诊断具有挑战性。BRAAFF核对表作为一种工具被引入以帮助区分尖锐痣和黑色素瘤,但尚未得到验证:方法:我们请具有不同皮肤镜专业知识的评分员通过在线平台,在使用或不使用 BRAAFF 核对表的情况下,对 533 个尖锐痣和 144 个黑色素瘤的皮肤镜图像进行诊断。根据评分结果,我们计算出了灵敏度、特异性和评分者之间的一致性。此外,我们还测试了新的简化版核对表:结果:我们收集了 175 位读者的 6880 个评分。BRAAFF 检查表的灵敏度为 92.5%,特异性为 65.0%,与模式识别诊断(灵敏度 90.0%,特异性 72.1%)相似。BRAAFF标准的互译一致性从一般到中等不等,其中平行脊和纤维模式的一致性最低(α=0.31),颜色和结构不对称的一致性最高(α=0.46)。经验丰富的读者的一致性和诊断准确性更高。只有两个标准的简化版与原始 BRAAFF 核对表的灵敏度(95.0%)相似,特异性(60.0%)较低。结论:BRAAFF 检查表是诊断黑素细胞性尖锐湿疣病变的有用工具,具有可接受的灵敏度和合理的特异性,但并不优于模式识别。简化版核对表更易于使用,敏感性相同,但特异性略有降低。
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引用次数: 0
Fast Itch Relief during Dupilumab Predicts Clinical Efficacy in Bullous Pemphigoid: A Retrospective Cohort Study. 一项回顾性队列研究:杜匹单抗治疗期间快速止痒可预测大疱性类天疱疮的临床疗效。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-01-01 Epub Date: 2024-07-29 DOI: 10.1159/000540590
Jeivicaa Thevan, Eloi Schmauch, Jakob Nilsson, Carole Florence Guillet, Andrea Boesch, Lukas Krähenbühl, Barbara Meier-Schiesser, Peter Schmid-Grendelmeier, Thomas Kündig, Antonios G A Kolios

Introduction: Dupilumab has emerged as a promising treatment option for bullous pemphigoid (BP). Rapid identification of responders could avoid the need for additional immunosuppressive treatments that are associated with increased morbidity and mortality.

Methods: To investigate the course of itch as an early indicator of treatment response, data of 12 BP patients treated with dupilumab at the University Hospital of Zurich were retrospectively evaluated. Disease severity was assessed by bullous pemphigoid disease area index (BPDAI) and pruritus by a numeric rating scale (NRS, 0-10) at baseline; days 1, 3, 14; months 1, 2; and the last follow-up.

Results: A total of 8/12 patients (67%) had complete response, and 4/12 patients (33%) had partial response during dupilumab treatment. Notably, a highly significant reduction of pruritus (p < 0.0001) was observed already on day 1 with further improvement at later time points. Moreover, fast relief of itch could predict treatment response with a significant correlation to clinical response on day 14 (Spearman correlation R 0.70, p value 0.025), with a positive but non-significant trend on day 3 (R 0.63, p value 0.091). Additionally, 92% (11/12 patients) were on dupilumab monotherapy at the last follow-up without any concomitant systemic or topical treatment for BP.

Conclusions: The rapid and significant decline in BP-associated pruritus observed with dupilumab correlated significantly with disease remission. Early evaluation of pruritus response could change how BP is treated in the future and avoid additional immunosuppressive treatment in BP.

简介杜比鲁单抗已成为治疗大疱性类天疱疮(BP)的一种很有前途的选择。快速识别应答者可避免额外的免疫抑制治疗,而这种治疗会增加发病率和死亡率:方法:为了研究作为治疗反应早期指标的瘙痒过程,我们回顾性评估了苏黎世大学医院用杜比鲁单抗治疗的12例丘疹性荨麻疹患者的数据。在基线、第1天、第3天、第14天、第1个月、第2个月和最后一次随访时,用大疱性类天疱疮疾病面积指数(BPDAI)评估疾病严重程度,用数字评分量表(NRS,0-10)评估瘙痒程度:8/12(67%)名患者在杜匹单抗治疗期间获得了完全应答,4/12(33%)名患者获得了部分应答。值得注意的是,瘙痒症在第一天就有了非常明显的减轻(p < 0.0001),并在随后的时间点得到进一步改善。此外,瘙痒的快速缓解可预测治疗反应,与第 14 天的临床反应有显著相关性(Spearman 相关性 R 0.70,p 值 0.025),第 3 天的趋势为正但不显著(R 0.63,p 值 0.091)。此外,92%的患者(11/12 例)在最后一次随访时接受了杜比单抗单药治疗,没有同时接受任何系统或局部降压治疗:结论:使用杜比单抗后,BP相关性瘙痒症迅速明显减轻,这与疾病缓解密切相关。对瘙痒反应的早期评估可能会改变今后治疗大疱性类天疱疮的方法,并避免对BP进行额外的免疫抑制治疗。
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引用次数: 0
Letter to the Editor on "Comparison of Social Media Content on Hidradenitis Suppurativa: A Cross-Sectional Study". 致编辑的信,主题为 "关于扁平苔藓的社交媒体内容比较:一项横断面研究
IF 3.4 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-01-01 Epub Date: 2024-01-16 DOI: 10.1159/000536251
Sophia Fruechte, Ronda Farah, Noah Goldfarb
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引用次数: 0
Bridging Molecular Mechanism and Clinical Practice in Vitiligo Treatment: An Updated Review. 连接白癜风治疗的分子机制与临床实践:最新综述。
IF 3.4 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-01-01 Epub Date: 2024-02-28 DOI: 10.1159/000537810
Hyun Jeong Ju, Jung Min Bae

Background: Treatment of vitiligo seeks to achieve three goals: cessation of disease progression, regeneration of pigmentation, and prevention of recurrence.

Summary: Number of nonsurgical interventions are available that suppress the autoimmune response and regenerate the melanocytes from the reservoir: phototherapy including psoralen and ultraviolet A, narrowband ultraviolet B, and 308-nm excimer and 311-nm Titanium:Sapphire lasers; topical agents including topical calcineurin inhibitors, topical corticosteroids, and topical 5-fluorouracil; and systemic agents including corticosteorids, mycophenolate mofetil, cyclosporine, methotrexate, minocycline, afamelanotide, and antioxidants. In recent years, a great advance has been made in the understanding of pathogenesis of vitiligo, and JAK inhibitors are being investigated as a new treatment. Minimally invasive procedures such as fractional lasers or microneedling can help achieve the optimal treatment outcome when used properly.

Key messages: Our review describes various treatment modalities for vitiligo based on their molecular mechanism of action. Bridging the gap between molecular mechanisms and therapeutic options would be a valuable reference for physicians in clinical practice.

背景:摘要:白癜风的治疗力求达到三个目标:停止疾病进展、色素再生和预防复发。为实现这些目标,目前有多种非手术干预方法,可抑制自身免疫反应,并从储库中再生剩余的黑色素细胞,只要每种方法使用得当,就能达到最佳治疗效果:我们的综述介绍了基于分子作用机制的各种白癜风治疗方法。弥合分子机制与治疗方案之间的差距将为医生的临床实践提供有价值的参考。
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引用次数: 0
Short Version of the Quality of Life Relevance-Acne Questionnaire. 生活质量相关性--痤疮问卷简版。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-01-01 Epub Date: 2024-09-13 DOI: 10.1159/000541444
Pavel V Chernyshov, Christos C Zouboulis, Servando E Marron, Michael J Boffa, Liana Manolache, Nives Pustišek, Vincenzo Bettoli, Dimitra Koumaki, Lucia Tomas-Aragones

Introduction: The goal of the present study was to develop a short version (SV) of the Quality of Life Relevance-Acne (QOLRELEVANCE-ACNE) based on the identified most relevant items for acne patients.

Methods: Members of the international internet group for acne patients were asked to fill in the short prototype version of the QOLRELEVANCE-ACNE. Internal consistency was measured using Cronbach's alpha.

Results: The answers of 684 acne patients were collected. The analysis revealed that the internal consistency of the instrument could be improved by removing a single item. That item was removed and the final four-item short version of the QOLRELEVANCE-ACNE-SV was formed. There is minimal or no overlapping of the QOLRELEVANCE-ACNE-SV with other brief forms of acne-specific HRQoL instruments.

Conclusion: The four-item QOLRELEVANCE-ACNE-SV questionnaire was developed and showed good internal consistency. An international validation study of the QOLRELEVANCE-ACNE-SV will be performed.

简介:本研究的目的是根据已确定的与痤疮患者最相关的项目,开发生活质量相关性-痤疮(QOLRELEVANCE-ACNE)的简短版本(SV):方法:要求痤疮患者国际互联网小组成员填写 QOLRELEVANCE-ACNE 的简短原型版本。结果:684 名痤疮患者的答案均符合问卷要求:结果:共收集了 684 名痤疮患者的答案。分析结果表明,去掉一个项目可以提高问卷的内部一致性。该项目被删除后,QOLRELEVANCE-ACNE-SV 最终形成了由四个项目组成的简短版本。QOLRELEVANCE-ACNE-SV与其他针对痤疮的简短型HRQoL工具的重叠极少或没有重叠:结论:QOLRELEVANCE-ACNE-SV问卷由四个项目组成,具有良好的内部一致性。将对 QOLRELEVANCE-ACNE-SV 进行国际验证研究。
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引用次数: 0
Electronic Patient-Reported Outcomes in Hidradenitis Suppurativa: Content Validity and Usability of the Electronic Hidradenitis Suppurativa Symptom Daily Diary, Hidradenitis Suppurativa Symptom Questionnaire, and Hidradenitis Suppurativa Quality of Life Questionnaire. 电子患者报告的慢性疲劳综合征结果:电子慢性疲劳综合症症状日记、慢性疲劳综合症状问卷和生活质量问卷的内容有效性和可用性。
IF 3.4 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-01-01 Epub Date: 2023-10-11 DOI: 10.1159/000534463
John R Ingram, Valerie Ciaravino, Robert Rolleri, Ingrid Pansar, Carla Dias-Barbosa, Joslyn S Kirby

Background: Hidradenitis suppurativa (HS), a chronic skin condition that causes pain and physical dysfunction, can impact significantly on quality of life. Disease-specific tools have been designed to assess the impact of HS on patients, including the HS Symptom Daily Diary (HSSDD), the HS Symptom Questionnaire (HSSQ), and the HS Quality of Life (HiSQOL©) questionnaire, which have been developed into electronic instruments (eHSSDD, eHSSQ, and eHiSQOL©).

Objectives: The objective of this study was to establish the content validity of the electronic version of the HSSDD and HSSQ, and the acceptability and usability of the HSSDD, HSSQ, and HiSQOL©, using concept elicitation and cognitive debriefing interviews.

Methods: This was a non-interventional qualitative video interview study involving participants aged ≥18 years with moderate to severe HS recruited from a single clinical site in the USA. Interviews gathered feedback on participants' symptom experience, followed by training and completion of the eHSSDD, eHSSQ, and eHiSQOL© questionnaires on electronic handheld devices. Participants were then interviewed on the content of the eHSSDD and eHSSQ and the acceptability and usability of all three instruments. Interviews were transcribed and qualitatively analysed.

Results: Twenty participants with moderate to severe HS (median age: 41.5 [range: 20.0-64.0]; n = 16/20 female) were included. All participants found the eHSSDD, eHSSQ, and eHiSQOL© instructions clear and described the instruments as "easy", "simple" and "self-explanatory". Overall understanding of individual items within the eHSSDD and eHSSQ was high; however, 6/20 participants had difficulty in understanding the average skin pain item in the eHSSDD. All participants were able to accurately recall their symptoms within the recall periods of the eHSSDD and eHSSQ, although 4/20 participants found the 24-h recall period of the eHSSDD limiting. Completion time was quick across all instruments, and usability was high, with the majority of participants reporting no difficulty in completing questionnaires on electronic devices.

Conclusion: The concepts covered in the eHSSDD and eHSSQ are relevant and important to patients, supporting their content validity. The findings also provide evidence of acceptability and usability of the eHSSDD, eHSSQ, and eHiSQOL©. A limitation was that all participants were recruited from a single site, which may have introduced selection bias and thus limited the generalisability of results.

背景:化脓性手足口炎(HS)是一种引起疼痛和身体功能障碍的慢性皮肤病,会对生活质量产生重大影响。疾病特异性工具已被设计用于评估HS对患者的影响,包括HS症状每日日记(HSSDD)、HS症状问卷(HSSQ)和HS生活质量问卷(HiSQOL©),这些问卷已被开发成电子仪器(eHSSDD、eHSSQ和eHiSQOL)。目的:建立HSSDD和HSSQ电子版的内容有效性,以及使用概念启发和认知汇报访谈的HSSDD、HSSQ和HiSQOL©的可接受性和可用性。方法:这是一项非介入性定性视频访谈研究,参与者年龄≥18岁,患有中度至重度HS,从美国的一个临床站点招募。访谈收集了参与者症状体验的反馈,然后在电子手持设备上培训并完成eHSSDD、eHSSQ和eHiSQOL©问卷。然后就eHSSDD和eHSSQ的内容以及所有三种工具的可接受性和可用性对参与者进行了采访。对访谈进行了转录和定性分析。结果:包括20名患有中度至重度HS的参与者(中位年龄:41.5[范围:20.0-64.0];n=16/20女性)。所有参与者都发现eHSSDD、eHSSQ和eHiSQOL©说明清晰明了,并将仪器描述为“简单”、“简单”和“不言自明”。对eHSSDD和eHSSQ中的单个项目的总体理解很高;然而,6/20名参与者难以理解eHSSDD中的“平均皮肤疼痛”项目。所有参与者都能够在eHSSDD和eHSSQ的回忆期内准确回忆自己的症状,尽管4/20的参与者发现eHSSDD的24小时回忆期有限。所有仪器的完成时间都很快,可用性也很高,大多数参与者报告在电子设备上完成问卷调查没有困难。结论:eHSSDD和eHSSQ中涵盖的概念对患者来说是相关和重要的,支持其内容的有效性。调查结果还提供了eHSSDD、eHSSQ和eHiSQOL的可接受性和可用性的证据。一个限制是,所有参与者都是从一个地点招募的,这可能引入了选择偏见,从而限制了结果的普遍性。
{"title":"Electronic Patient-Reported Outcomes in Hidradenitis Suppurativa: Content Validity and Usability of the Electronic Hidradenitis Suppurativa Symptom Daily Diary, Hidradenitis Suppurativa Symptom Questionnaire, and Hidradenitis Suppurativa Quality of Life Questionnaire.","authors":"John R Ingram, Valerie Ciaravino, Robert Rolleri, Ingrid Pansar, Carla Dias-Barbosa, Joslyn S Kirby","doi":"10.1159/000534463","DOIUrl":"10.1159/000534463","url":null,"abstract":"<p><strong>Background: </strong>Hidradenitis suppurativa (HS), a chronic skin condition that causes pain and physical dysfunction, can impact significantly on quality of life. Disease-specific tools have been designed to assess the impact of HS on patients, including the HS Symptom Daily Diary (HSSDD), the HS Symptom Questionnaire (HSSQ), and the HS Quality of Life (HiSQOL©) questionnaire, which have been developed into electronic instruments (eHSSDD, eHSSQ, and eHiSQOL©).</p><p><strong>Objectives: </strong>The objective of this study was to establish the content validity of the electronic version of the HSSDD and HSSQ, and the acceptability and usability of the HSSDD, HSSQ, and HiSQOL©, using concept elicitation and cognitive debriefing interviews.</p><p><strong>Methods: </strong>This was a non-interventional qualitative video interview study involving participants aged ≥18 years with moderate to severe HS recruited from a single clinical site in the USA. Interviews gathered feedback on participants' symptom experience, followed by training and completion of the eHSSDD, eHSSQ, and eHiSQOL© questionnaires on electronic handheld devices. Participants were then interviewed on the content of the eHSSDD and eHSSQ and the acceptability and usability of all three instruments. Interviews were transcribed and qualitatively analysed.</p><p><strong>Results: </strong>Twenty participants with moderate to severe HS (median age: 41.5 [range: 20.0-64.0]; n = 16/20 female) were included. All participants found the eHSSDD, eHSSQ, and eHiSQOL© instructions clear and described the instruments as \"easy\", \"simple\" and \"self-explanatory\". Overall understanding of individual items within the eHSSDD and eHSSQ was high; however, 6/20 participants had difficulty in understanding the average skin pain item in the eHSSDD. All participants were able to accurately recall their symptoms within the recall periods of the eHSSDD and eHSSQ, although 4/20 participants found the 24-h recall period of the eHSSDD limiting. Completion time was quick across all instruments, and usability was high, with the majority of participants reporting no difficulty in completing questionnaires on electronic devices.</p><p><strong>Conclusion: </strong>The concepts covered in the eHSSDD and eHSSQ are relevant and important to patients, supporting their content validity. The findings also provide evidence of acceptability and usability of the eHSSDD, eHSSQ, and eHiSQOL©. A limitation was that all participants were recruited from a single site, which may have introduced selection bias and thus limited the generalisability of results.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"65-76"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41194459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Molecular Profile of Subungual Melanoma: A MelaNostrum Consortium Study of 68 Cases Reporting BRAF, NRAS, KIT, and TERT Promoter Status. 蹄下黑色素瘤的分子特征:一项由68例报告BRAF、NRAS、KIT和TERT启动子状态的MelaNostrum联合研究。
IF 3.4 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-01-01 Epub Date: 2023-11-02 DOI: 10.1159/000534955
David Millan-Esteban, Zaida García-Casado, Anna Macià, Inés de la Rosa, Clara Torrecilla-Vall-Llossera, Rosa Maria Penin, Esperanza Manrique-Silva, Stefania Pellegrini, Maria Raffaella Biasin, Piera Rizzolo, Alicia Gavillero, Alessandro Di Stefani, Cristina Pellegrini, Celia Requena, Maria Concetta Fargnoli, Ketty Peris, Carlo Cota, Chiara Menin, Maria Teresa Landi, Eduardo Nagore

Background: Subungual melanoma (SM) is an unusual type of melanocytic tumor affecting the nail apparatus. The mutational prevalence of the most prominently mutated genes in melanoma has been reported in small cohorts of SM, with unclear conclusions on whether SM is different from the rest of melanomas arising in acral locations or not. Hence, the molecular profile of a large series of SM is yet to be described.

Objectives: The aim of this study was to describe the molecular characteristics of a large series of SM and their association with demographic and histopathological features.

Methods: Patients diagnosed with SM between 2001 and 2021 were identified from six Spanish and Italian healthcare centers. The mutational status for BRAF, NRAS, KIT, and the promoter region of TERT (TERTp) were determined either by Sanger sequencing or next-generation sequencing. Clinical data were retrieved from the hospital databases to elucidate potential associations.

Results: A total of 68 SM cases were included. Mutations were most common in BRAF (10.3%) and KIT (10%), followed by NRAS (7.6%), and TERTp (3.8%). Their prevalence was similar to that of non-subungual acral melanoma but higher in SM located on the hand than on the foot.

Conclusions: To date, this study represents the largest cohort of SM patients with data on the known driver gene mutations. The low mutation rate supports a different etiopathogenic mechanism for SM in comparison of non-acral cutaneous melanoma, particularly for SM of the foot.

背景:蹄下黑色素瘤(SM)是一种不常见的影响指甲器官的黑色素细胞肿瘤。黑色素瘤中最显著突变基因的突变流行率已在SM的小队列中报道,关于SM是否与其他发生在肢端的黑色素瘤不同的结论尚不清楚。因此,一大系列SM的分子谱尚待描述。目的:本研究的目的是描述一系列SM的分子特征及其与人口统计学和组织病理学特征的关系。方法:从西班牙和意大利的六个医疗中心确定2001年至2021年间诊断为SM的患者。BRAF、NRAS、KIT和TERT启动子区(TERTp)的突变状态通过Sanger测序或下一代测序确定。从医院数据库中检索临床数据,以阐明潜在的相关性。结果:共纳入68例SM病例。突变在BRAF(10.3%)和KIT(10%)中最常见,其次是NRAS(7.6%)和TERTp(3.8%)。它们的患病率与非舌下肢端黑色素瘤相似,但位于手上的SM比位于脚上的SM更高。结论:到目前为止,这项研究代表了有已知驱动基因突变数据的最大SM患者队列。与非肢端皮肤黑色素瘤相比,低突变率支持SM的不同病因机制,特别是足部SM。
{"title":"Molecular Profile of Subungual Melanoma: A MelaNostrum Consortium Study of 68 Cases Reporting BRAF, NRAS, KIT, and TERT Promoter Status.","authors":"David Millan-Esteban, Zaida García-Casado, Anna Macià, Inés de la Rosa, Clara Torrecilla-Vall-Llossera, Rosa Maria Penin, Esperanza Manrique-Silva, Stefania Pellegrini, Maria Raffaella Biasin, Piera Rizzolo, Alicia Gavillero, Alessandro Di Stefani, Cristina Pellegrini, Celia Requena, Maria Concetta Fargnoli, Ketty Peris, Carlo Cota, Chiara Menin, Maria Teresa Landi, Eduardo Nagore","doi":"10.1159/000534955","DOIUrl":"10.1159/000534955","url":null,"abstract":"<p><strong>Background: </strong>Subungual melanoma (SM) is an unusual type of melanocytic tumor affecting the nail apparatus. The mutational prevalence of the most prominently mutated genes in melanoma has been reported in small cohorts of SM, with unclear conclusions on whether SM is different from the rest of melanomas arising in acral locations or not. Hence, the molecular profile of a large series of SM is yet to be described.</p><p><strong>Objectives: </strong>The aim of this study was to describe the molecular characteristics of a large series of SM and their association with demographic and histopathological features.</p><p><strong>Methods: </strong>Patients diagnosed with SM between 2001 and 2021 were identified from six Spanish and Italian healthcare centers. The mutational status for BRAF, NRAS, KIT, and the promoter region of TERT (TERTp) were determined either by Sanger sequencing or next-generation sequencing. Clinical data were retrieved from the hospital databases to elucidate potential associations.</p><p><strong>Results: </strong>A total of 68 SM cases were included. Mutations were most common in BRAF (10.3%) and KIT (10%), followed by NRAS (7.6%), and TERTp (3.8%). Their prevalence was similar to that of non-subungual acral melanoma but higher in SM located on the hand than on the foot.</p><p><strong>Conclusions: </strong>To date, this study represents the largest cohort of SM patients with data on the known driver gene mutations. The low mutation rate supports a different etiopathogenic mechanism for SM in comparison of non-acral cutaneous melanoma, particularly for SM of the foot.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"164-169"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71421559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Genetic Polymorphisms of rs9949644 in MAPK4 Are Associated with Clinical Response to Methotrexate in Patients with Psoriasis. MAPK4中rs9949644的基因多态性与银屑病患者对甲氨蝶呤的临床反应有关。
IF 3.4 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-01-01 Epub Date: 2023-07-26 DOI: 10.1159/000533260
Zhijia Fan, Qiong Huang, Zhenghua Zhang, Ling Han, Xu Fang, Ke Yang, Guiqin Huang, Zhizhong Zheng, Nikhil Yawalkar, Yong Lin, Zhicheng Wang, Kexiang Yan

Background: The study aimed to investigate the relationship of MAPK4 genetic variants with the efficacy of methotrexate (MTX) in psoriasis patients.

Methods: Patients treated with MTX were classified as responders or nonresponders if the Psoriasis Area and Severity Index (PASI) at week 12 was reduced to greater than 75% or lower than 75%, respectively. The genotypes of 14 MAPK4 single-nucleotide polymorphisms in 310 patients were analyzed. The expression levels of MAPK4 protein were detected by Western blot.

Results: Only rs9949644 polymorphisms were associated with the efficacy after adjusting for the confounding factors. Patients with the rs9949644 AG or GG genotype had a better clinical response compared to patients with the AA genotype. Rs9949644 polymorphisms were significantly associated with the PASI improvement rate. Besides, the protein level of MAPK4, positively associated with the psoriasis severity, was higher in patients. There were no significant differences of MAPK4 protein levels among the three groups. While after treatment, MAPK4 levels in the AG or GG group showed a significantly down-regulated trend.

Conclusion: By demonstrating the significant association of MAPK4 with the efficacy of MTX, this study indicates that MAPK4 may be involved in the psoriasis progression and act as a predictor of therapeutic response.

背景:该研究旨在探讨MAPK4基因变异与银屑病患者甲氨蝶呤(MTX)疗效的关系:该研究旨在探讨MAPK4基因变异与甲氨蝶呤(MTX)对银屑病患者疗效的关系:方法:接受MTX治疗的患者在第12周时的银屑病面积和严重程度指数(PASI)降至大于75%或小于75%,则分别被归类为应答者或无应答者。研究分析了 310 名患者中 14 个 MAPK4 单核苷酸多态性的基因型。结果发现,只有 rs9949644 多态性基因的表达水平高于 MAPK4 蛋白的表达水平,而 rs9949644 多态性基因的表达水平低于 MAPK4 蛋白:结果:调整混杂因素后,只有rs9949644多态性与疗效相关。与 AA 基因型患者相比,rs9949644 AG 或 GG 基因型患者的临床反应更好。Rs9949644 多态性与 PASI 改善率显著相关。此外,患者体内与银屑病严重程度呈正相关的 MAPK4 蛋白水平较高。三组患者的 MAPK4 蛋白水平无明显差异。治疗后,AG 或 GG 组的 MAPK4 水平呈明显下调趋势:本研究表明,MAPK4与MTX的疗效有明显相关性,MAPK4可能参与了银屑病的进展,并可作为治疗反应的预测因子。
{"title":"Genetic Polymorphisms of rs9949644 in MAPK4 Are Associated with Clinical Response to Methotrexate in Patients with Psoriasis.","authors":"Zhijia Fan, Qiong Huang, Zhenghua Zhang, Ling Han, Xu Fang, Ke Yang, Guiqin Huang, Zhizhong Zheng, Nikhil Yawalkar, Yong Lin, Zhicheng Wang, Kexiang Yan","doi":"10.1159/000533260","DOIUrl":"10.1159/000533260","url":null,"abstract":"<p><strong>Background: </strong>The study aimed to investigate the relationship of MAPK4 genetic variants with the efficacy of methotrexate (MTX) in psoriasis patients.</p><p><strong>Methods: </strong>Patients treated with MTX were classified as responders or nonresponders if the Psoriasis Area and Severity Index (PASI) at week 12 was reduced to greater than 75% or lower than 75%, respectively. The genotypes of 14 MAPK4 single-nucleotide polymorphisms in 310 patients were analyzed. The expression levels of MAPK4 protein were detected by Western blot.</p><p><strong>Results: </strong>Only rs9949644 polymorphisms were associated with the efficacy after adjusting for the confounding factors. Patients with the rs9949644 AG or GG genotype had a better clinical response compared to patients with the AA genotype. Rs9949644 polymorphisms were significantly associated with the PASI improvement rate. Besides, the protein level of MAPK4, positively associated with the psoriasis severity, was higher in patients. There were no significant differences of MAPK4 protein levels among the three groups. While after treatment, MAPK4 levels in the AG or GG group showed a significantly down-regulated trend.</p><p><strong>Conclusion: </strong>By demonstrating the significant association of MAPK4 with the efficacy of MTX, this study indicates that MAPK4 may be involved in the psoriasis progression and act as a predictor of therapeutic response.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"111-118"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10252591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Atypical and Typical Presentation of Erythema Nodosum: Clinical Differences in Treatment and Outcome. 结节性红斑的非典型和典型表现:治疗和结果的临床差异。
IF 3.4 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-01-01 Epub Date: 2024-01-05 DOI: 10.1159/000535617
Nina Meienberger, Julia-Tatjana Maul, Fabienne Fröhlich, Lara Valeska Maul, Thomas Kündig, Thierry Nordmann, Florian Anzengruber

Introduction: Erythema nodosum (EN) is the most common form of panniculitis that predominantly affects the shins. While EN in atypical sites has been described by many authors, there are currently only case studies published on this topic. This study aimed to evaluate clinical differences between patients suffering from EN on the shins, compared to patients with EN in atypical locations.

Methods: We analyzed 105 patients in a retrospective, single-center study at a university hospital in Switzerland. Typical EN was defined as lesions, found only on the lower legs, while atypical EN as lesions on the upper legs, trunk, arms, or face, only or in addition to lesions on the lower legs. The patients were assessed for age, gender, dermatologic history, time until first medical consultation, time to diagnosis, and time until remission. Further, etiology, symptoms, and applied therapies were investigated. Findings were then compared between the typical and atypical EN cohorts.

Results: Overall, we included 70 patients (37.99 ± 15.67 [3-81] years) with EN solely on the shins and 35 patients (41.27 ± 16.85 [9-76] years) with EN on other locations. Interestingly, time until diagnosis was significantly shorter in atypical EN (p = 0.034, 1.14 ± 4.68 vs. 0.46 ± 1.14 months). Time to remission was similar in both groups (3.61 ± 2.73 vs. 3.05 ± 2.86 months, respectively). Sarcoidosis was the only etiologic factor significantly more frequent in atypical EN compared to typical EN (23% vs. 9%, p = 0.042). Besides that, solely subtle differences were seen regarding etiology, gender, age at onset, course of the disease, and symptoms.

Conclusions: Our study suggests that only minor alterations between both study populations exist. Significant differences were found in time to diagnosis (shorter for atypical EN), as well as in sarcoidosis as an etiologic factor (more frequent in atypical EN). While adalimumab was only prescribed in atypical EN cases, prognosis seems to be similar for typical and atypical EN (similar time to remission, similar amount of reoccurring cases). Due to the limited sample size, however, our study population may have been too small to detect the relevant differences, and bigger studies may be needed.

导言:结节性红斑(EN)是最常见的泛发性皮肤炎,主要影响胫骨。虽然许多作者都描述过非典型部位的结节性红斑,但目前仅有相关的病例研究。本研究旨在评估胫部EN患者与非典型部位EN患者的临床差异。方法 我们对瑞士一家大学医院的 105 名患者进行了回顾性单中心研究分析。典型EN的定义是仅在小腿上发现的病变,而非典型EN的定义是仅在小腿上发现或除了小腿上的病变外,还在上肢、躯干、手臂或面部发现的病变。对患者的年龄、性别、皮肤病史、首次就诊时间、确诊时间和缓解时间进行了评估。此外,还对病因、症状和应用疗法进行了调查。然后对典型和非典型 EN 患者的调查结果进行比较。结果 我们共收治了 70 例(37.99 ± 15.67 [3-81]岁)仅在胫骨部位出现 EN 的患者,以及 35 例(41.27 ± 16.85 [9-76]岁)在其他部位出现 EN 的患者。有趣的是,非典型EN的诊断时间明显较短(P=0.034,1.14 ± 4.68 vs. 0.46 ± 1.14个月)。两组患者的缓解时间相似(分别为 3.61 ± 2.73 对 3.05 ± 2.86 个月)。与典型EN相比,肉样瘤病是非典型EN中唯一明显更常见的病因(23% vs. 9%,P=0.042)。除此以外,病因、性别、发病年龄、病程和症状等方面均存在细微差别。结论 我们的研究表明,两个研究人群之间仅存在微小的差异。在诊断时间(非典型耳鼻咽喉炎的诊断时间较短)和作为病因的肉样瘤病(非典型耳鼻咽喉炎的发病率较高)方面存在显著差异。虽然阿达木单抗仅用于非典型EN病例,但典型EN和非典型EN的预后似乎相似(缓解时间相似,复发病例数量相似)。然而,由于样本量有限,我们的研究人群可能太小,无法检测到相关差异,因此可能需要更大规模的研究。
{"title":"Atypical and Typical Presentation of Erythema Nodosum: Clinical Differences in Treatment and Outcome.","authors":"Nina Meienberger, Julia-Tatjana Maul, Fabienne Fröhlich, Lara Valeska Maul, Thomas Kündig, Thierry Nordmann, Florian Anzengruber","doi":"10.1159/000535617","DOIUrl":"10.1159/000535617","url":null,"abstract":"<p><strong>Introduction: </strong>Erythema nodosum (EN) is the most common form of panniculitis that predominantly affects the shins. While EN in atypical sites has been described by many authors, there are currently only case studies published on this topic. This study aimed to evaluate clinical differences between patients suffering from EN on the shins, compared to patients with EN in atypical locations.</p><p><strong>Methods: </strong>We analyzed 105 patients in a retrospective, single-center study at a university hospital in Switzerland. Typical EN was defined as lesions, found only on the lower legs, while atypical EN as lesions on the upper legs, trunk, arms, or face, only or in addition to lesions on the lower legs. The patients were assessed for age, gender, dermatologic history, time until first medical consultation, time to diagnosis, and time until remission. Further, etiology, symptoms, and applied therapies were investigated. Findings were then compared between the typical and atypical EN cohorts.</p><p><strong>Results: </strong>Overall, we included 70 patients (37.99 ± 15.67 [3-81] years) with EN solely on the shins and 35 patients (41.27 ± 16.85 [9-76] years) with EN on other locations. Interestingly, time until diagnosis was significantly shorter in atypical EN (p = 0.034, 1.14 ± 4.68 vs. 0.46 ± 1.14 months). Time to remission was similar in both groups (3.61 ± 2.73 vs. 3.05 ± 2.86 months, respectively). Sarcoidosis was the only etiologic factor significantly more frequent in atypical EN compared to typical EN (23% vs. 9%, p = 0.042). Besides that, solely subtle differences were seen regarding etiology, gender, age at onset, course of the disease, and symptoms.</p><p><strong>Conclusions: </strong>Our study suggests that only minor alterations between both study populations exist. Significant differences were found in time to diagnosis (shorter for atypical EN), as well as in sarcoidosis as an etiologic factor (more frequent in atypical EN). While adalimumab was only prescribed in atypical EN cases, prognosis seems to be similar for typical and atypical EN (similar time to remission, similar amount of reoccurring cases). Due to the limited sample size, however, our study population may have been too small to detect the relevant differences, and bigger studies may be needed.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"226-232"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10997255/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139377338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Atopic Dermatitis Severity and Risk for Psoriasis: A Nationwide Population-Based Study. 特应性皮炎严重程度与牛皮癣风险:一项基于全国人口的研究。
IF 3.4 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-01-01 Epub Date: 2024-01-16 DOI: 10.1159/000536143
Hyun Ji Lee, Yong Jun Hong, Kyung Do Han, Ji Hyun Lee

Introduction: As research on the role of the Th17/IL-23 pathway gains importance, the relationship between atopic dermatitis (AD) and psoriasis is becoming elucidated.

Objective: The objective of this study wasto evaluate whether AD and its severity affect the risk for psoriasis.

Methods: This retrospective population-based study used the database from the 2009 National Health Insurance Services-Health Screening Cohort in Korea. A total of 3,957,922 adult subjects were included and observed until 2018. The primary outcome was newly diagnosed psoriasis.

Results: After adjusting for possible confounding factors, the moderate-to-severe AD group had the highest hazard ratio (HR) for psoriasis (HR = 2.50; 95% confidence interval (CI), 2.40-2.61), followed by the mild AD group (HR = 2.31; 95% CI: 2.19-2.44) compared with the non-AD group during a median 8.11 ± 1.19 years of follow-up.

Limitations: It is difficult to define AD, which is not standardized, using a claims database and exclude patients who were misdiagnosed with AD.

Conclusion: Patients with severe AD showed an increased risk for psoriasis compared to controls, and the risk for psoriasis was increased according to AD severity. This suggests that psoriasis and AD could share inflammatory, immune, and genetic features.

背景:随着对Th17/IL-23通路作用的研究日益受到重视,特应性皮炎(AD)与银屑病之间的关系也逐渐被阐明:评估特应性皮炎及其严重程度是否会影响银屑病的发病风险:这项基于人群的回顾性研究使用了 2009 年韩国国民健康保险服务-健康筛查队列的数据库。共纳入 3957922 名成年受试者,并观察至 2018 年。主要结果是新诊断的银屑病:调整可能的混杂因素后,在中位 8.11 ± 1.19 年的随访期间,与非 AD 组相比,中重度 AD 组的银屑病危险比(HR)最高(HR = 2.50;95% 置信区间(CI),2.40-2.61),其次是轻度 AD 组(HR = 2.31;95% CI,2.19-2.44):局限性:很难使用索赔数据库来定义未标准化的注意力缺失症,也很难排除被误诊为注意力缺失症的患者:结论:与对照组相比,严重注意力缺失症患者患银屑病的风险增加,而且患银屑病的风险随注意力缺失症的严重程度而增加。这表明银屑病和注意力缺失症可能具有共同的炎症、免疫和遗传特征。
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Dermatology
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