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Systemic Therapy for Atopic Dermatitis in Children and Adolescents: A US Expert Consensus. 儿童和青少年特应性皮炎的系统治疗:美国专家共识。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-15 DOI: 10.1159/000540920
Lawrence F Eichenfield, Mark Boguniewicz, Christine T Lauren, Donald Y M Leung, Moise L Levy, Lynda C Schneider, Elaine C Siegfried, Wynnis L Tom, Amy S Paller

Atopic dermatitis (AD) is a chronic, type-2 mediated, inflammatory skin disease characterized by intense pruritus, disruption of skin barrier function, and immune dysregulation. Management strategies for AD are routinely determined based on disease severity. First-line treatment begins with basic skin care and topical anti-inflammatory medication, which is typically sufficient for the management of mild-to-moderate disease. For those patients with moderate-to-severe disease, systemic therapy is often required. This can involve off-label treatment with conventional immunosuppressant medications. However, this approach is limited by a lack of robust clinical trial data and safety concerns that necessitate close monitoring. The emergence of novel targeted biologics and small molecules to treat AD presents an opportunity to optimize AD management and patient outcomes by offering greater efficacy than traditional immunosuppressants and a favorable safety profile. As the treatment landscape shifts, clinicians can benefit from a standardized process of patient assessment and treatment, along with resources to help maintain contemporary knowledge of available therapeutic options. This US-based, expert-led consensus used a modified Delphi process to develop core recommendations for the use of systemic medications for the management of pediatric patients <18 years of age with moderate-to-severe AD.

特应性皮炎(AD)是一种由 2 型介导的慢性炎症性皮肤病,以剧烈瘙痒、皮肤屏障功能破坏和免疫调节失调为特征。特应性皮炎的治疗策略通常根据疾病的严重程度而定。一线治疗从基本的皮肤护理和局部抗炎药物开始,这通常足以治疗轻度至中度疾病。对于中度至重度患者,通常需要进行系统治疗。这可能需要使用传统的免疫抑制剂进行标签外治疗。然而,由于缺乏可靠的临床试验数据以及需要密切监测的安全性问题,这种方法受到了限制。治疗 AD 的新型靶向生物制剂和小分子药物的出现为优化 AD 管理和患者预后提供了机会,因为它们比传统的免疫抑制剂具有更高的疗效和良好的安全性。随着治疗方式的转变,临床医生可以从患者评估和治疗的标准化流程中获益,同时还可以利用各种资源帮助保持对现有治疗方案的了解。这项以美国为基地、由专家主导的共识采用了改良的德尔菲程序,为治疗18岁中重度AD儿科患者的全身用药制定了核心建议。
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引用次数: 0
Artificial intelligence-driven skin aging simulation as a novel skin cancer prevention. 人工智能驱动的皮肤老化模拟是一种新型皮肤癌预防方法。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-14 DOI: 10.1159/000541943
Lorena Gantenbein, Sara Elisa Cerminara, Julia-Tatjana Maul, Alexander A Navarini, Lara Valeska Maul

Introduction: Skin cancer, a prevalent cancer type among fair-skinned patients globally, poses a relevant public health concern due to rising incidence rates. Ultraviolet (UV) radiation poses a major risk factor for skin cancer. However intentional tanning associated with sunburns remains a common practice, notably among female adults Appropriate prevention campaigns targeting children and adolescents are needed to improve sun-protection behavior particularly in these age groups. The aim of our study is to investigate if an AI-based simulation of facial skin aging can enhance sun-protection behavior in female adults.

Methods: In this single-center prospective observational pilot study at Department of Dermatology at the University Hospital of Basel, we took photographs of healthy young females' faces with a VISIA-CR camera (Canfield Scientific Inc., Parsippany, New Jersey, Version 8.2) between February to March 2021. Digital images were performed in three angles (straight, left 45°, right 45°). All participants received an AI-based simulation of their facial skin with continuous aging to 80 years. A newly created anonymous questionnaire capturing participants' sociodemographic data and also tanning and sun-protection behavior was completed in pre- and post-aging simulation. To observe long-term effects, a 2-year follow-up was conducted between March to April 2023.

Results: The 60 participants (mean age 23.6±2.5 years) evaluated the importance of sun-protection significantly higher after skin aging simulation with VISIA-CR camera (p<0.0001; 95%-CI:8.2-8.8). Post-intervention, 91.7% (55/60) of the females were motivated to reduce UV exposure and to intensify UV protection in the future since the individual UV-dependent risk was perceived significantly higher (p<0.001; 95%-CI: 5.9-6.7). At two-year follow-up, 96% (24/25) indicated persistent effort reducing UV exposure. The preference for SPF50+ sunscreen increased to 46.7% (28/65) directly after the skin-aging simulation and continued to rise up to 60.0% (15/25) after two years.

Conclusions: Our data emphasize the potential of AI-assisted photo-aging interventions to enhance motivation for UV protection in the short and the long term We encourage that different age and gender groups are addressed in a personalized, generation-specific manner with the appropriate media and by considering the Hawthorne effect. Campaigns with visual AI support can improve the intent of cancer-preventative behavior.

导言:皮肤癌是全球皮肤白皙的患者中常见的癌症类型,由于发病率不断上升,已成为一个相关的公共卫生问题。紫外线(UV)辐射是皮肤癌的主要风险因素。然而,与晒伤相关的故意晒黑仍是一种常见的做法,尤其是在成年女性中。 需要针对儿童和青少年开展适当的预防活动,以改善他们的防晒行为,尤其是在这些年龄组中。我们的研究旨在探讨基于人工智能的面部皮肤老化模拟是否能提高成年女性的防晒行为:在巴塞尔大学医院皮肤科进行的这项单中心前瞻性观察试点研究中,我们在 2021 年 2 月至 3 月期间使用 VISIA-CR 相机(Canfield Scientific Inc.数字图像从三个角度(直线、左 45°、右 45°)进行拍摄。所有参与者都接受了基于人工智能的面部皮肤模拟,并持续衰老至 80 岁。在模拟老化前后,参与者填写了一份新制作的匿名问卷,其中包括社会人口学数据以及日晒和防晒行为。为了观察长期效果,在 2023 年 3 月至 4 月期间进行了为期 2 年的跟踪调查:60名参与者(平均年龄为23.6±2.5岁)在使用VISIA-CR相机模拟皮肤老化后,对防晒重要性的评价明显提高(p<0.0001; 95%-CI:8.2-8.8)。干预后,91.7%(55/60)的女性有动力减少紫外线照射,并在未来加强紫外线防护,因为她们认为个人紫外线依赖风险明显增加(p<0.001; 95%-CI:5.9-6.7)。在两年的随访中,96%(24/25)的受访者表示将继续努力减少紫外线照射。皮肤老化模拟后,SPF50+防晒霜的偏好直接上升到46.7%(28/65),两年后继续上升到60.0%(15/25):我们鼓励针对不同年龄和性别的群体,通过适当的媒体和考虑霍桑效应,采取个性化的、针对特定世代的方式。有视觉人工智能支持的宣传活动可以提高防癌行为的积极性。
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引用次数: 0
Factors Associated with Severe Hidradenitis Suppurativa, Using Hurley Staging and Metascore. 使用赫利分期法和 Metascore 测量与重度化脓性角膜炎相关的因素。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-11 DOI: 10.1159/000541052
Mathieu Daoud, Mariano Suppa, Farida Benhadou, Stéphanie Heudens, Anne-Sophie Sarkis, Hassane Njimi, Sara K Saunte, Lila Desmarest, Carmen Orte Cano, Céline Dandoy, Laura Nobile, Margot Fontaine, Mathilde Daxhelet, Jalila Karama, Jonathan M White, Gregor B E Jemec, Véronique Del Marmol

Introduction: Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease for which certain risk factors are well known: obesity and smoking (in particular). However, the factors associated with more severe conditions, and therefore potential aggravators of the disease, remain a matter of debate. Our study aims to determine the clinical factors associated with severe HS using several severity scores.

Methods: The data were obtained via the ERHS questionnaire from patients exclusively recruited at Erasme Hospital in Brussels. The severity of HS was firstly estimated by the Hurley score, and secondly by a metascore, a system combining the iHS4, HS-PGA, SAHS, and DLQI. Univariable and multivariable analyses were performed.

Results: Six hundred and forty-seven patients were included in the Hurley analysis, and 456 patients in the metascore analysis. In multivariable analysis, men have a more severe metascore than women (odds ratio [OR] = 1.89, p = 0.022), smoking was associated with a more severe disease according to metascore, especially in mild cases (OR = 0.76, p = 0.043), and an elevated body mass index was associated with having Hurley stage III disease compared to Hurley I or II disease (OR = 1.09, p = 0.001). A significant association is also shown between blood pressure and Hurley stage (OR = 0.97, p = 0.025). Self-reports of nonsteroidal anti-inflammatory drugs aggravating the disease is also a factor associated with greater severity according to the metascore (OR = 0.12, p = 0.008). Finally, several locations of HS lesions were associated with greater severity, in particular the armpits according to the metascore (OR = 0.29, p < 0.001), and the perianal area according to the Hurley score (OR = 0.15, p < 0.001).

Conclusion: HS seems to be more severe in men; smoking seems to aggravate mild cases of HS, while increased body mass index plays a major role in the transition from Hurley II to Hurley III.

导言化脓性扁平湿疹(HS)是一种慢性炎症性皮肤病,其某些风险因素众所周知:肥胖和吸烟(尤其是)。然而,与更严重病情相关的因素,以及因此可能导致病情加重的因素,仍是一个争论不休的问题。我们的研究旨在通过几种严重程度评分来确定与严重 HS 相关的临床因素:方法:我们通过 ERHS 问卷获得了布鲁塞尔 Erasme 医院专门招募的患者的数据。HS的严重程度首先由Hurley评分估算,其次由metascore评分估算,该系统结合了iHS4、HS-PGA、SAHS和DLQI。进行了单变量和多变量分析:有 647 名患者被纳入赫利分析,456 名患者被纳入 metascore 分析。在多变量分析中,男性的 metascore 比女性更严重(比值比 [OR] = 1.89,p = 0.022),根据 metascore,吸烟与更严重的疾病相关,尤其是在轻度病例中(OR = 0.76,p = 0.043),与 Hurley I 或 II 期疾病相比,体重指数升高与 Hurley III 期疾病相关(OR = 1.09,p = 0.001)。血压与 Hurley 分期之间也存在明显关联(OR = 0.97,p = 0.025)。自我报告使用非甾体类抗炎药会加重病情,这也是根据 metascore(OR = 0.12,p = 0.008)判断病情严重程度的一个相关因素。最后,HS病变的几个部位与病情的严重程度有关,尤其是根据 metascore(OR = 0.29,p <0.001)得出的腋窝部位和根据 Hurley 评分得出的肛周部位(OR = 0.15,p <0.001):结论:HS似乎在男性中更为严重;吸烟似乎会加重轻度HS的病情,而体重指数的增加在从Hurley II到Hurley III的转变过程中起着重要作用。
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引用次数: 0
Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals. 在 92,455 人的外显子组测序队列中发现与化脓性扁桃体炎相关的新型遗传风险变异。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-11 DOI: 10.1159/000540359
Raghu P Metpally, Sangeetha Vishweswaraiah, Sarathbabu Krishnamurthy, Nazia Saiyed, Richard C Stahl, Alicia Golden, Andrew Denisenko, Jeffrey Staples, Claudia Gonzaga-Jauregui, David J Carey, Falk Bechara, Gregor B E Jemec, Heinric Williams, Uppala Radhakrishna

Introduction: Hidradenitis suppurativa (HS) is a prevalent and persistent inflammatory skin disorder, lacking a known cure or effective biomarkers for early diagnosis at present. The genetic determinants of HS have not been fully documented, but it is believed to result from a combination of genetic and environmental factors.

Methods: To identify relevant HS gene variants in sporadic HS patients, this study utilized longitudinal electronic health records (EHRs) and whole-exome sequencing. DNA exome sequencing data from 92,455 participant samples in the MyCode biobank, linked to Geisinger's EHR, were analyzed. This cohort included 1,092 HS cases and 91,363 healthy controls. The MyCode EHR has a median longitudinal follow-up of 15 years per participant, with an average of 87 clinical encounters, 687 laboratory tests, and 7 procedures.

Results: There were 1,092 (901 females and 191 males) participants aged 14-89 years (median 47 years) with HS (L73.2), indicating a 1.18% prevalence and accounting for a 4.7:1 female-to-male ratio among the individuals presenting for clinical care. γ-secretase complex, syndromic, and autoinflammatory gene variants were assessed. Potential pathogenic variants were identified among 66 individuals in the HS genes studied. Molecularly, the estimated HS variant prevalence was 1:1,400 in the cohort, 12.3% of variant carriers had HS diagnosis in EHR.

Conclusions: Using longitudinal EHR data, genomic screening identified HS-associated gene variants in a defined group of sporadic HS patients to augment the clinical diagnosis, particularly in cases of ambiguity. Based on this study, the field of skin disorders can benefit from a personalized approach to HS diagnosis using large-scale sequencing.

简介化脓性扁平湿疹(HS)是一种常见的顽固性炎症性皮肤病,目前尚无治愈方法或有效的早期诊断生物标志物。HS的遗传决定因素尚未被完全记录,但据信它是由遗传和环境因素共同作用的结果:为了确定散发性 HS 患者的相关 HS 基因变异,本研究采用了纵向电子健康记录(EHR)和全外显子组测序技术。该研究分析了与 Geisinger 电子健康记录相连的 MyCode 生物库中 92,455 份参与者样本的 DNA 外显子组测序数据。该队列包括 1,092 例 HS 病例和 91,363 例健康对照。MyCode EHR对每位参与者的纵向随访中位数为15年,平均87次临床就诊、687次实验室检测和7次手术:共有 1,092 名(901 名女性和 191 名男性)14-89 岁(中位数 47 岁)的参与者患有 HS(L73.2),患病率为 1.18%,临床就诊者中的男女比例为 4.7:1。对γ-分泌酶复合体、综合征和自身炎症基因变异进行了评估。在所研究的 66 名患者中发现了 HS 基因的潜在致病变异。从分子角度看,估计队列中的 HS 变异发生率为 1:1,400,12.3% 的变异携带者在 EHR 中被诊断为 HS:结论:通过纵向电子病历数据,基因组筛查在一组明确的散发性HS患者中发现了HS相关基因变异,从而增强了临床诊断,尤其是在诊断不明确的情况下。基于这项研究,利用大规模测序对HS进行个性化诊断可使皮肤病领域受益匪浅。
{"title":"Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals.","authors":"Raghu P Metpally, Sangeetha Vishweswaraiah, Sarathbabu Krishnamurthy, Nazia Saiyed, Richard C Stahl, Alicia Golden, Andrew Denisenko, Jeffrey Staples, Claudia Gonzaga-Jauregui, David J Carey, Falk Bechara, Gregor B E Jemec, Heinric Williams, Uppala Radhakrishna","doi":"10.1159/000540359","DOIUrl":"https://doi.org/10.1159/000540359","url":null,"abstract":"<p><strong>Introduction: </strong>Hidradenitis suppurativa (HS) is a prevalent and persistent inflammatory skin disorder, lacking a known cure or effective biomarkers for early diagnosis at present. The genetic determinants of HS have not been fully documented, but it is believed to result from a combination of genetic and environmental factors.</p><p><strong>Methods: </strong>To identify relevant HS gene variants in sporadic HS patients, this study utilized longitudinal electronic health records (EHRs) and whole-exome sequencing. DNA exome sequencing data from 92,455 participant samples in the MyCode biobank, linked to Geisinger's EHR, were analyzed. This cohort included 1,092 HS cases and 91,363 healthy controls. The MyCode EHR has a median longitudinal follow-up of 15 years per participant, with an average of 87 clinical encounters, 687 laboratory tests, and 7 procedures.</p><p><strong>Results: </strong>There were 1,092 (901 females and 191 males) participants aged 14-89 years (median 47 years) with HS (L73.2), indicating a 1.18% prevalence and accounting for a 4.7:1 female-to-male ratio among the individuals presenting for clinical care. γ-secretase complex, syndromic, and autoinflammatory gene variants were assessed. Potential pathogenic variants were identified among 66 individuals in the HS genes studied. Molecularly, the estimated HS variant prevalence was 1:1,400 in the cohort, 12.3% of variant carriers had HS diagnosis in EHR.</p><p><strong>Conclusions: </strong>Using longitudinal EHR data, genomic screening identified HS-associated gene variants in a defined group of sporadic HS patients to augment the clinical diagnosis, particularly in cases of ambiguity. Based on this study, the field of skin disorders can benefit from a personalized approach to HS diagnosis using large-scale sequencing.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460189","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
Three-Dimensional Total Body Photography, Digital Dermoscopy, and in vivo Reflectance Confocal Microscopy for Follow-Up Assessments of High-Risk Patients for Melanoma: A Prospective, Controlled Study. 用三维全身摄影、数字皮肤镜和活体反射共聚焦显微镜对黑色素瘤高危患者进行随访评估:一项前瞻性对照研究。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-08 DOI: 10.1159/000541894
Sarah Hobelsberger, Julian Steininger, Friedegund Elke Meier, Stefan Beissert, Frank Friedrich Gellrich

Introduction: The combination of total body photography (TBP) and digital dermoscopy (DD) for monitoring patients with a high risk for melanoma can allow early detection of melanoma. This study aimed to examine if the use of three-dimensional (3D)-TBP, DD, and reflectance confocal microscopy (RCM) for regular monitoring of patients at high risk for melanoma was beneficial in comparison to monitoring using dermoscopy alone.

Methods: The intervention group (IG) underwent 3D-TBP examinations at every visit, along with DD and/or RCM for diagnosis and/or monitoring of pigmented lesions if necessary. The control group (CG) underwent dermoscopy examinations alone.

Results: A total of 600 patients (324 male and 276 female) were followed up over a median period of 23 months (mean, 2.85 visits) in the IG and 22 months (mean, 2.74 visits) in the CG (p = 0.009). DD and RCM monitoring were performed for 166 and 105 lesions, respectively. The number needed to treat (NNT) to diagnose melanoma with RCM was 2.83. The IG included more second primary melanomas (22 vs. 1, p = 0.022) and more excised nevi (186 vs. 10, p < 0.001), which consisted of more dysplastic nevi (137 vs. 2, p < 0.001). Among the melanomas diagnosed in the IG, three were diagnosed directly with RCM, nine with a combination of 3D-TBP and RCM, and 10 with dermoscopy alone.

Conclusion: Follow-up assessments with a combination of 3D-TBP, DD, and RCM led to the detection of more melanomas in comparison to the CG. The use of RCM reduced the NNT for melanocytic lesions.

简介结合全身摄影(TBP)和数字皮肤镜(DD)对黑色素瘤高危患者进行监测,可以及早发现黑色素瘤。本研究旨在探讨使用三维(3D)-TBP、DD 和反射共聚焦显微镜(RCM)对黑色素瘤高危患者进行定期监测与仅使用皮肤镜监测相比是否有益:干预组(IG)每次就诊时都接受 3D-TBP 检查,必要时还接受 DD 和/或 RCM 诊断和/或监测色素性病变。对照组(CG)仅进行皮肤镜检查:共对 600 名患者(324 名男性和 276 名女性)进行了随访,IG 组的中位随访时间为 23 个月(平均 2.85 次),CG 组为 22 个月(平均 2.74 次)(P=0.009)。分别对 166 个和 105 个病灶进行了 DD 和 RCM 监测。使用 RCM 诊断黑色素瘤的治疗需要量 (NNT) 为 2.83。IG 包括更多的第二原发性黑色素瘤(22 对 1,p=0.022)和更多的切除痣(186 对 10,p<0.001),其中包括更多的发育不良痣(137 对 2,p<0.001)。在 IG 诊断出的黑色素瘤中,3 例直接通过 RCM 诊断出,9 例结合 3D-TBP 和 RCM 诊断出,10 例仅通过皮肤镜诊 断出:结论:与 CG 相比,采用 3D-TBP 、DD 和 RCM 组合进行随访评估可发现更多黑色素瘤。使用 RCM 降低了黑色素细胞病变的 NNT。
{"title":"Three-Dimensional Total Body Photography, Digital Dermoscopy, and in vivo Reflectance Confocal Microscopy for Follow-Up Assessments of High-Risk Patients for Melanoma: A Prospective, Controlled Study.","authors":"Sarah Hobelsberger, Julian Steininger, Friedegund Elke Meier, Stefan Beissert, Frank Friedrich Gellrich","doi":"10.1159/000541894","DOIUrl":"10.1159/000541894","url":null,"abstract":"<p><strong>Introduction: </strong>The combination of total body photography (TBP) and digital dermoscopy (DD) for monitoring patients with a high risk for melanoma can allow early detection of melanoma. This study aimed to examine if the use of three-dimensional (3D)-TBP, DD, and reflectance confocal microscopy (RCM) for regular monitoring of patients at high risk for melanoma was beneficial in comparison to monitoring using dermoscopy alone.</p><p><strong>Methods: </strong>The intervention group (IG) underwent 3D-TBP examinations at every visit, along with DD and/or RCM for diagnosis and/or monitoring of pigmented lesions if necessary. The control group (CG) underwent dermoscopy examinations alone.</p><p><strong>Results: </strong>A total of 600 patients (324 male and 276 female) were followed up over a median period of 23 months (mean, 2.85 visits) in the IG and 22 months (mean, 2.74 visits) in the CG (p = 0.009). DD and RCM monitoring were performed for 166 and 105 lesions, respectively. The number needed to treat (NNT) to diagnose melanoma with RCM was 2.83. The IG included more second primary melanomas (22 vs. 1, p = 0.022) and more excised nevi (186 vs. 10, p < 0.001), which consisted of more dysplastic nevi (137 vs. 2, p < 0.001). Among the melanomas diagnosed in the IG, three were diagnosed directly with RCM, nine with a combination of 3D-TBP and RCM, and 10 with dermoscopy alone.</p><p><strong>Conclusion: </strong>Follow-up assessments with a combination of 3D-TBP, DD, and RCM led to the detection of more melanomas in comparison to the CG. The use of RCM reduced the NNT for melanocytic lesions.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142388793","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
IL36RN Mutations and Correlated Characteristics in Generalized Pustular Psoriasis Patients in Can Tho City, Vietnam: A Cross-Sectional Study. 越南芹苴市泛发性脓疱型银屑病患者的 IL36RN 基因突变及相关特征:横断面研究
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-08 DOI: 10.1159/000541886
Trang Nguyen Thi Thuy, Kien Trung Nguyen, Bang Le Nguyen, Tam Tran Thi Minh, Hung Do Tran, Hung Gia Tran

Introduction: Pustular psoriasis is a rare and severe form of psoriasis characterized by sterile pustules on an erythematous background. The disease ranges from localized to generalized forms, with the latter being particularly life-threatening and recurrent. Understanding the genetic basis of pustular psoriasis, particularly IL36RN mutations, is crucial for developing better treatments. This study aimed to determine the prevalence and types of IL36RN gene mutations and their relationship with clinical and paraclinical features in patients with pustular psoriasis in Can Tho City, Vietnam.

Methods: A cross-sectional study was conducted at Can Tho Dermatology Hospital involving 59 patients diagnosed with generalized pustular psoriasis (GPP) according to ERASPEN and Japanese Dermatological Association criteria. Data on demographic, clinical, and laboratory characteristics were collected. IL36RN gene mutations were identified through genomic DNA sequencing. Statistical analyses were performed to explore associations between IL36RN mutations and clinical features.

Results: The study included 59 participants, predominantly female (69.5%), with an average age of 39.12 years. A significant proportion (83.1%) had a history of psoriasis, with frequent recurrences (94.9%). The most common IL36RN mutation identified was p.Arg10ArgfsX1, present in 44.1% of patients. Other mutations included p.Pro76Leu (20.3%) and p.Arg102Trp (1.7%). Patients with IL36RN mutations were younger and had an earlier disease onset. Significant associations were found between IL36RN mutations and clinical features such as fever (OR = 11, p < 0.0001) and geographic tongue (OR = 14.67, p < 0.0001).

Conclusion: Our study reveals a high prevalence of IL36RN mutations, particularly p.Arg10ArgfsX1, in Vietnamese pustular psoriasis patients, strongly associating these mutations with clinical features like fever and geographic tongue.

简介脓疱型银屑病是一种罕见的严重银屑病,其特征是在红斑背景上出现无菌性脓疱。脓疱型银屑病有局部型和全身型之分,其中全身型银屑病尤其危及生命,而且容易复发。了解脓疱型银屑病的遗传基础,尤其是 IL36RN 基因突变,对于开发更好的治疗方法至关重要。本研究旨在确定越南芹苴市脓疱型银屑病患者 IL36RN 基因突变的发生率、类型及其与临床和副临床特征的关系:芹苴皮肤病医院根据 ERASPEN 和日本皮肤病协会的标准,对 59 名被诊断为泛发性脓疱型银屑病(GPP)的患者进行了横断面研究。研究人员收集了有关人口统计学、临床和实验室特征的数据。通过基因组 DNA 测序确定了 IL36RN 基因突变。对IL36RN基因突变与临床特征之间的关系进行了统计分析:研究共纳入 59 名参与者,其中女性占绝大多数(69.5%),平均年龄为 39.12 岁。相当一部分患者(83.1%)有银屑病病史,且经常复发(94.9%)。最常见的IL36RN突变是p.Arg10ArgfsX1,出现在44.1%的患者中。其他突变包括p.Pro76Leu(20.3%)和p.Arg102Trp(1.7%)。有IL36RN突变的患者更年轻,发病时间更早。IL36RN突变与发热(OR=11,p <0.0001)和地理舌(OR=14.67,p <0.0001)等临床特征之间存在显著关联:我们的研究揭示了越南脓疱型银屑病患者中IL36RN突变(尤其是p.Arg10ArgfsX1)的高患病率,这些突变与发热和地理舌等临床特征密切相关。
{"title":"IL36RN Mutations and Correlated Characteristics in Generalized Pustular Psoriasis Patients in Can Tho City, Vietnam: A Cross-Sectional Study.","authors":"Trang Nguyen Thi Thuy, Kien Trung Nguyen, Bang Le Nguyen, Tam Tran Thi Minh, Hung Do Tran, Hung Gia Tran","doi":"10.1159/000541886","DOIUrl":"10.1159/000541886","url":null,"abstract":"<p><strong>Introduction: </strong>Pustular psoriasis is a rare and severe form of psoriasis characterized by sterile pustules on an erythematous background. The disease ranges from localized to generalized forms, with the latter being particularly life-threatening and recurrent. Understanding the genetic basis of pustular psoriasis, particularly IL36RN mutations, is crucial for developing better treatments. This study aimed to determine the prevalence and types of IL36RN gene mutations and their relationship with clinical and paraclinical features in patients with pustular psoriasis in Can Tho City, Vietnam.</p><p><strong>Methods: </strong>A cross-sectional study was conducted at Can Tho Dermatology Hospital involving 59 patients diagnosed with generalized pustular psoriasis (GPP) according to ERASPEN and Japanese Dermatological Association criteria. Data on demographic, clinical, and laboratory characteristics were collected. IL36RN gene mutations were identified through genomic DNA sequencing. Statistical analyses were performed to explore associations between IL36RN mutations and clinical features.</p><p><strong>Results: </strong>The study included 59 participants, predominantly female (69.5%), with an average age of 39.12 years. A significant proportion (83.1%) had a history of psoriasis, with frequent recurrences (94.9%). The most common IL36RN mutation identified was p.Arg10ArgfsX1, present in 44.1% of patients. Other mutations included p.Pro76Leu (20.3%) and p.Arg102Trp (1.7%). Patients with IL36RN mutations were younger and had an earlier disease onset. Significant associations were found between IL36RN mutations and clinical features such as fever (OR = 11, p < 0.0001) and geographic tongue (OR = 14.67, p < 0.0001).</p><p><strong>Conclusion: </strong>Our study reveals a high prevalence of IL36RN mutations, particularly p.Arg10ArgfsX1, in Vietnamese pustular psoriasis patients, strongly associating these mutations with clinical features like fever and geographic tongue.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142388792","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
Twenty Five Years of Medical Discoveries Aboard the International Space Station: A Retrospective Discussion of Medical Translations from Space. 国际空间站医学发现二十五年:太空医学转化的回顾性讨论。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-08 DOI: 10.1159/000541885
Kristen Dean, Ryan Scheinkman, Sophie Clivio, Ricardo Cooke, Daniel Green, Sheila Sharifi, Keyvan Nouri
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引用次数: 0
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 : 2024-10-05 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。
{"title":"Validation of a Dermatoscopy-Based Algorithm for the Diagnosis of Acral Melanoma.","authors":"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","doi":"10.1159/000541591","DOIUrl":"10.1159/000541591","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380258","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
Trichophyton soudanense, Trichophyton violaceum, and Trichophyton tonsurans in Munich: Travel- and Migration-Related Cutaneous Fungal Infections. 慕尼黑的 T. soudanense、T. violaceum 和 T. tonsurans:与旅行和移民有关的皮肤真菌感染。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-10-04 DOI: 10.1159/000540360
Liv C Hoffmann, Lars E French, Markus Reinholz, Miklós Sárdy, Andreas Wollenberg, Annette Kerschnitzki, Orsolya N Horváth

Introduction: Trichophyton soudanense, Trichophyton violaceum, and Trichophyton tonsurans are considered rare pathogens in Germany. They are presumed to infect people from Germany when they are traveling to tropical and subtropical areas. The incidence and the mode of infection with these three fungal pathogens in Munich were investigated to assess their significance for clinical practice.

Methods: This monocentric study was conducted at a large European academic dermatology department in Munich from January 1, 2011, till August 30, 2020. We performed a retrospective analysis of medical data of all out- and inpatients presenting at our hospital with a suspected cutaneous fungal infection.

Results: A total of 87,229 swabs were collected from 48,916 patients; 11,513 (13.2%) cultures confirmed a fungal infection. One of the three aforementioned dermatophytes was detected in 247 (2.1%) samples. The average patient age was 15.5 years (0-84 years, SD: 15.6) at the time of infection. T. tonsurans was the confirmed pathogen in 137 (55.5%) samples with increasing frequency over time. T. tonsurans spread in 11 cases through close contact with humans (kindergarten, martial arts, accommodation for asylum seekers). T. violaceum was detected in 88 (35.6%) samples with a peak in 2016 and 2017. T. soudanense was detected in 22 (8.9%) samples. A total of 46.7% of all tinea capitis cases were caused by one of these pathogens.

Conclusion: In case of tinea capitis, a travel history should be performed and rare fungal infections should be considered in the differential diagnosis.

导言:苏旦毛癣菌、暴力毛癣菌和扁桃体毛癣菌在德国被认为是罕见的病原体。据推测,它们会在德国人前往热带和亚热带地区旅行时感染。我们调查了这三种真菌病原体在慕尼黑的发病率和感染方式,以评估它们对临床实践的意义:这项单中心研究于 2011 年 1 月 1 日至 2020 年 8 月 30 日在慕尼黑的一家大型欧洲学术皮肤科进行。我们对所有疑似皮肤真菌感染的门诊和住院患者的医疗数据进行了回顾性分析:结果:共从 48916 名患者身上采集了 87229 个拭子,其中 11513 个(13.2%)经培养证实为真菌感染。在 247 份(2.1%)样本中检测到了上述三种皮真菌中的一种。感染时患者的平均年龄为 15.5 岁(0-84 岁,SD:15.6)。在 137 份(55.5%)样本中,扁桃体毛癣菌是确诊的病原体,并且随着时间的推移,感染频率不断增加。在 11 个病例中,扁桃体毛癣菌通过与人类(幼儿园、武术馆、寻求庇护者收容所)的密切接触而传播。在 88 份(35.6%)样本中检测到了暴力毛癣菌,2016 年和 2017 年达到高峰。在 22 份(8.9%)样本中检测到苏旦毛癣菌。46.7%的头癣病例是由这些病原体之一引起的:结论:对于头癣病例,应了解旅行史,并在鉴别诊断中考虑罕见的真菌感染。
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引用次数: 0
Frequency of atopic dermatitis and psoriasis in the elderly - Cross-sectional findings from the German AugUR study. 老年人特应性皮炎和银屑病的发病率--德国 AugUR 研究的横断面结果。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-09-27 DOI: 10.1159/000541590
Karl Philipp Drewitz, Klaus J Stark, Martina E Zimmermann, Iris M Heid, Christian J Apfelbacher

Introduction Atopic Dermatitis (AD) and psoriasis appear to affect 2-3% (lifetime prevalence) people worldwide. However, there is little epidemiological data on the prevalence of those two chronic inflammatory skin diseases in the elderly. The aim of this study was to provide frequency estimates of AD and psoriasis obtained from an elderly population in Germany. Methods We examined baseline data from the AugUR study, a cohort study focusing on an aging population within the vicinity of Regensburg, Germany (comprising 1,133 participants with a median age of 76.7 years, 45% being female). We estimated raw frequencies of physician-diagnosed AD and psoriasis from participants' self-reports in personal interviews. These frequencies were adjusted to reflect the demographic distribution of the Bavarian population, considering both gender and age groupings spanning five or ten years. Results Data from 1,133 participants aged 70-95 (45.1% women) were available for analysis. Physician-diagnosed AD was reported by 3.3 % of participants (2.4% from men, 4.3% from women) and 5.6% (95%-CI: 4.3-7.1%) reported physician-diagnosed psoriasis (6.6% in men, 4.3% in women). Age- and gender-standardized frequency estimates for AD were 3.4% (95%-CI: 2.4-4.6, 2.6% in men, 4.3% in women) and 5.3% for psoriasis (95%-CI: 4.1-6.8, 6.3% in men and 4.1% in women). Conclusion This study indicates a lower than previously reported lifetime-prevalence of AD (3.4% vs. 8-10%) and a higher one regarding psoriasis (5.3% vs. 2-4%) in highly aged individuals. More epidemiological research in elderly populations using validated physician diagnoses are desirable.

导言 特应性皮炎(AD)和银屑病似乎影响着全世界 2-3%(终生患病率)的人。然而,有关这两种慢性炎症性皮肤病在老年人中发病率的流行病学数据却很少。本研究的目的是提供德国老年人口中 AD 和银屑病发病率的估计值。方法 我们检查了 AugUR 研究的基线数据,这是一项针对德国雷根斯堡附近老龄人口的队列研究(共有 1,133 名参与者,中位年龄为 76.7 岁,45% 为女性)。我们根据参与者在个人访谈中的自我报告,估算出医生诊断为注意力缺失症和银屑病的原始频率。我们对这些频率进行了调整,以反映巴伐利亚州的人口分布情况,同时考虑到跨越 5 年或 10 年的性别和年龄分组。结果 有 1,133 名 70-95 岁的参与者(45.1% 为女性)的数据可供分析。3.3%的参与者(男性 2.4%,女性 4.3%)被医生诊断为注意力缺失症,5.6%(95%-CI:4.3-7.1%)的参与者(男性 6.6%,女性 4.3%)被医生诊断为银屑病。按年龄和性别标准化的发病频率估计值为:注意力缺失症为 3.4%(95%-CI:2.4-4.6,男性为 2.6%,女性为 4.3%),银屑病为 5.3%(95%-CI:4.1-6.8,男性为 6.3%,女性为 4.1%)。结论 本研究表明,在高龄人群中,注意力缺失症的终生患病率(3.4% 对 8-10%)和银屑病的终生患病率(5.3% 对 2-4%)均低于之前的报道。我们希望在老年人群中开展更多的流行病学研究,并使用有效的医生诊断方法。
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引用次数: 0
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Dermatology
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