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Tocilizumab-Induced Sweet Syndrome in a Familial Mediterranean Fever Patient: A Case Report. 一名家族性地中海热患者的托珠单抗诱发甜美综合征:病例报告。
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-07-01 DOI: 10.5826/dpc.1403a190
Yusuf Can Edek, Derya Yıldırım, Melike Urgancı, Betül Öğüt, Esra Adışen
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引用次数: 0
Topical Pharmacological Treatment of Actinic Keratoses: Focus on Tirbanibulin 1% Ointment. 角化性皮肤病的局部药物治疗:聚焦 1%替巴尼布林软膏。
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-07-01 DOI: 10.5826/dpc.1403S1a145S
Mario Valenti, Matteo Bianco, Alessandra Narcisi, Antonio Costanzo, Riccardo Borroni, Marco Ardigò

Actinic keratosis (AK) is a frequent precancerous skin lesion that mostly affects chronically sun-exposed areas. Chronic sun damage leads to various mutations in onco-suppressor and oncogenic genes which cause an uncontrolled proliferation of atypical keratinocytes. Untreated AKs may evolve in cutaneous squamous cell carcinoma (cSCC), with the consequent need for dermato-surgical excision or even for systemic immunotherapy in case of invasive/metastatic cSCCs. Epidemiology data on AK prevalence are various, however, the literature unanimously reports an increasing prevalence due to the aging of the population. Clinically AKs appear as a scaly, erythematous macule or papule or hyperkeratotic plaque. Management of AKs and the field of cancerization is important to avoid the natural evolution into squamous cell carcinomas (SCCs). Both physical and topical treatments are approved for managing AKs. Patient compliance with topical regimens is usually low due to the length of the posology and frequent skin adverse events. A recently approved tirbanibulin-based ointment, showed potential for inhibiting cell proliferation and blocking SRC-kinases, implicated in the progression of AKs in SCCs. The advantage of this new treatment is the practical posology, with a daily application for 5 consecutive days on AKs of the face-scalp area. Local skin reactions are usually mild and do not require treatment discontinuation. The short course of this new therapy and its excellent tolerance massively increased patient compliance. This article reviews what is currently known about this new therapy from its mechanism of action to clinical trial outcomes regarding safety, effectiveness, and patient adherence to the treatment.

日光性角化病(AK)是一种常见的癌前皮肤病变,多发于长期暴露在阳光下的部位。慢性日光损伤会导致抑制基因和致癌基因发生各种突变,从而导致非典型角质形成细胞失控增殖。未经治疗的 AK 可能演变为皮肤鳞状细胞癌(cSCC),因此需要进行皮肤手术切除,如果是侵袭性/转移性 cSCC,甚至需要进行全身免疫治疗。有关 AK 患病率的流行病学数据多种多样,但文献一致报告称,由于人口老龄化,AK 的患病率在不断上升。临床上,AK 表现为鳞屑性红斑、丘疹或角化过度斑块。AK 的治疗和癌变领域对于避免自然演变为鳞状细胞癌(SCC)非常重要。物理和局部治疗都被批准用于治疗 AK。由于外用药疗程较长,且经常出现皮肤不良反应,患者对外用药的依从性通常较低。最近获批的一种基于替巴尼布林的软膏显示出抑制细胞增殖和阻断 SRC 激酶的潜力,SRC 激酶与 AKs 在 SCCs 中的进展有关。这种新疗法的优点是姿势实用,每天连续 5 天涂抹脸部和头皮部位的 AK。局部皮肤反应通常很轻微,无需中断治疗。这种新疗法疗程短、耐受性好,大大提高了患者的依从性。本文回顾了目前对这种新疗法的了解,从其作用机制到安全性、有效性和患者对治疗的依从性方面的临床试验结果。
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引用次数: 0
Dermoscopy Relevance in Eyelid Lentigo Maligna Melanoma. 皮肤镜与眼睑麦粒肿黑色素瘤的相关性
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-07-01 DOI: 10.5826/dpc.1403a157
Sabina Vaccari, Alice Nadia Rossi, Matilde Roda, Federico Cassini, Lorenzo Maltoni, Emi Dika
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引用次数: 0
Evaluation of Ultrasound Changes With the Use of Microneedling Versus Fractional CO2 Laser in Atrophic Acne Scars. 在萎缩性痤疮疤痕中使用微针疗法与点阵式二氧化碳激光疗法的超声变化评估
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-07-01 DOI: 10.5826/dpc.1403a168
Claudio Ñanco-Meléndez, Mathias Yagnam-Díaz, Marco Muñoz-Cáceres, Javier Contador-González, Walter Gubelin-Harcha, Fernando Chicao-Carmona, Jerry Tan, Ximena Wortsman

Introduction: Atrophic acne scarring, a common sequela of acne, can be treated by different interventions, including microneedling and laser resurfacing.

Objectives: We sought to evaluate the comparative efficacy of microneedling versus fractional CO2 laser in treating atrophic acne facial scars using imaging with high and ultra-high frequency ultrasound.

Methods: Participants received 2 sessions, separated by 1 month, of microneedling on the left side of the face and fractional CO2 laser on the right. Color Doppler ultrasound evaluations (24 and 70 MHz) were conducted at baseline and 3 months after treatment. Each patient completed questionnaires on satisfaction, pain, and adverse effects.

Results: Nine subjects were enrolled. The frequency order of scar types was boxcar, ice-pick, and rolling. At 3 months, using the acne scar clinical evaluation scale, a decrease in scar scores of both methods was observed for total scars (P = 0.0005), ice-pick scars (P = 0.0128), and rolling scars (P = 0.0007). Twenty-two scars analyzed by ultrasound demonstrated a trend to decrease in size; however, no significant changes were observed for either microneedling or CO2 laser treatments. Moreover, there were no significant differences between these methods. Both treatments were rated as good or very good by patient assessments. There was a low frequency of pain and hyperpigmentation reported with both modalities, albeit somewhat higher with microneedling.

Conclusions: Both microneedling and CO2 laser improved atrophic acne scars. Ultrasound did not show significant differences between these modalities.

导言:萎缩性痤疮瘢痕是痤疮的常见后遗症,可通过不同的干预措施进行治疗,包括微针和激光换肤:我们试图利用高频和超高频超声波成像技术,评估微针疗法与点阵式二氧化碳激光疗法在治疗面部萎缩性痤疮疤痕方面的疗效比较:参试者左侧面部接受微针治疗,右侧面部接受二氧化碳点阵激光治疗,两次治疗相隔 1 个月。在基线和治疗后 3 个月分别进行了彩色多普勒超声评估(24 和 70 MHz)。每位患者都填写了有关满意度、疼痛和不良反应的问卷:结果:九名受试者接受了治疗。疤痕类型的频率顺序为箱型、冰锥型和滚动型。3个月后,使用痤疮疤痕临床评估量表,观察到两种方法的疤痕评分均有所下降:总疤痕(P = 0.0005)、冰锥疤痕(P = 0.0128)和滚动疤痕(P = 0.0007)。用超声波分析的 22 个疤痕显示出缩小的趋势;但微针或二氧化碳激光治疗的疤痕都没有明显变化。此外,这两种方法之间也没有明显差异。两种治疗方法都被患者评为 "好 "或 "非常好"。两种方法都很少出现疼痛和色素沉着的情况,但微针疗法的疼痛和色素沉着发生率较高:结论:微针和二氧化碳激光都能改善萎缩性痤疮疤痕。结论:微针疗法和二氧化碳激光疗法都能改善萎缩性痤疮疤痕,超声波疗法在这两种疗法之间没有明显差异。
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引用次数: 0
New-Onset Blepharitis in Patient Treated with Secukinumab for Severe Psoriasis. 接受塞库单抗治疗的重症银屑病患者新发睑缘炎。
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-07-01 DOI: 10.5826/dpc.1403a185
Maria Francesca Baracca, Filippo Viviani, Alessandro Pileri, Giacomo Clarizio, Federico Bardazzi
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引用次数: 0
Gdansk Wound-QoL Questionnaire: Pilot Study on Health-Related Quality of Life of Patients with Chronic Ulcers with Emphasis on Professional Physician-Patient Relations. 格但斯克伤口生活质量问卷:关于慢性溃疡患者健康相关生活质量的试点研究,重点关注专业医患关系。
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-07-01 DOI: 10.5826/dpc.1403a138
Marcela Nowak, Dorota Piechota, Wioletta Baranska-Rybak

Introduction: Chronic wounds lower health-related quality of life (QoL), as they affect various aspects of life due to pain, odor, tedious treatment, and stigma from society. Implementing proper treatment, where patient is well informed and active is a key for best outcomes.

Objectives: The aim of the study was to evaluate health-related QoL among the patients with chronic ulcers, with the use of new scale Gdansk Wound QoL.

Methods: We enrolled 108 patients who met the inclusion criteria. Before the education on day 0 patients were asked to fill in Gdansk Wound-QoL questionnaire, that was developed in cooperation between dermatologists, general and plastic surgeons, as well as wound nurses, as well as fill the follow-up Gdansk Would-QoL questionnaire on day 30, which was also the end of the study.

Results: Study participants (N = 108) were on average 76.1 ± 10.8 years and all of whom had a venous ulcer on their lower limbs of average wound area of 10.8 cm2. QoL, according to the Gdansk Wound-QoL questionnaire, increased on average by 36.7% after 30 days trial. Moreover, on the follow-up visit 94.4% of the patients stated that their knowledge on the disease has increased and everyone was satisfied with the course of treatment proposed by the current doctor. Furthermore, 44.4% of the study group increased their activity at the end of the study.

Conclusions: This pilot descriptive observational study shows that Gdansk Wound-QoL questionnaire can provide professionals in wound care good feedback on health-related QoL of patients with chronic wounds. This information has the potential to enhance patients well-being and overall comfort.

导言:慢性伤口会降低与健康相关的生活质量(QoL),因为疼痛、异味、繁琐的治疗和社会的歧视会影响生活的各个方面。实施适当的治疗,让患者充分了解情况并积极配合治疗,是取得最佳疗效的关键:本研究旨在使用新量表 "格但斯克伤口 QoL "评估慢性溃疡患者的健康相关 QoL:我们招募了 108 名符合纳入标准的患者。在接受教育的第0天,患者被要求填写由皮肤科医生、普外科医生、整形外科医生以及伤口护士合作开发的格但斯克伤口QoL问卷,并在第30天,也就是研究结束时填写格但斯克伤口QoL随访问卷:研究参与者(N = 108)的平均年龄为(76.1 ± 10.8)岁,下肢均有静脉溃疡,平均伤口面积为 10.8 平方厘米。根据格但斯克伤口生活质量调查问卷,试验 30 天后,患者的生活质量平均提高了 36.7%。此外,94.4% 的患者在随访时表示,他们对疾病的认识有所提高,而且每个人都对当前医生提出的治疗方案感到满意。此外,44.4% 的研究小组在研究结束时增加了活动量:这项试验性描述观察研究表明,格但斯克伤口生活质量调查问卷能为伤口护理专业人员提供有关慢性伤口患者健康相关生活质量的良好反馈。这些信息有可能提高患者的幸福感和整体舒适度。
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引用次数: 0
Guselkumab - In Psoriasis and Beyond. Guselkumab - 银屑病及其他。
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-07-01 DOI: 10.5826/dpc.1403a181
Aditya Kumar Bubna, Vinayak Viplav

Introduction: Guselkumab is an interleukin 23p19 inhibitor, and the first in this group, to be approved by the US Food and Drug Administration for the management of moderate to severe psoriasis. Apart from its utility in psoriasis, there are a number of other dermatologic conditions where guselkumab has demonstrated value.

Objectives: The aim of this narrative review is to describe the utility of guselkumab in psoriasis as well as its implication in off-label dermatologic disorders.

Methods: Pubmed, Google Scholar, Scopus and ResearchGate were searched for scholarly articles related to guselkumab and its utility in dermatology using the search terms "Guselkumab" AND "Psoriasis" AND "other dermatological disorders".

Results: Guselkumab is a valuable biologic agent for the management of psoriasis and psoriatic arthropathy. It has also been used successfully for other dermatologic disorders like hidradenitis suppurativa, lichen planus, pityriasis rubra pilaris and pyoderma gangrenosum. Recently, its utility in Stewart-Treves angiosarcoma (STA) has been exemplified.

Conclusion: Guselkumab usage is not limited to psoriasis. Its benefit extends to many more dermatologic conditions. Its utility in STA could open an avenue for its application in the field of oncology. Furthermore, it has an acceptable safety profile.

简介Guselkumab 是一种白细胞介素 23p19 抑制剂,也是美国食品和药物管理局批准用于治疗中度至重度银屑病的第一种抑制剂。除了用于银屑病外,古舍库单抗在其他一些皮肤病中也有应用价值:本综述旨在描述古舍库单抗在银屑病中的应用及其在标签外皮肤病中的意义:方法:使用 "Guselkumab"、"银屑病 "和 "其他皮肤病 "等检索词,在Pubmed、Google Scholar、Scopus和ResearchGate上检索与古谢库单抗及其在皮肤病学中的应用相关的学术文章:Guselkumab是一种治疗银屑病和银屑病关节病的重要生物制剂。它还被成功用于治疗其他皮肤病,如化脓性扁平苔藓、扁平苔藓、红斑狼疮和脓皮病。最近,它在 Stewart-Treves 血管肉瘤(STA)中的应用也得到了验证:结论:古舍库单抗的使用并不局限于银屑病。结论:Guselkumab 的使用并不局限于银屑病,它还可用于更多的皮肤病。它在 STA 中的应用为其在肿瘤领域的应用开辟了一条途径。此外,它的安全性也是可以接受的。
{"title":"Guselkumab - In Psoriasis and Beyond.","authors":"Aditya Kumar Bubna, Vinayak Viplav","doi":"10.5826/dpc.1403a181","DOIUrl":"10.5826/dpc.1403a181","url":null,"abstract":"<p><strong>Introduction: </strong>Guselkumab is an interleukin 23p19 inhibitor, and the first in this group, to be approved by the US Food and Drug Administration for the management of moderate to severe psoriasis. Apart from its utility in psoriasis, there are a number of other dermatologic conditions where guselkumab has demonstrated value.</p><p><strong>Objectives: </strong>The aim of this narrative review is to describe the utility of guselkumab in psoriasis as well as its implication in off-label dermatologic disorders.</p><p><strong>Methods: </strong>Pubmed, Google Scholar, Scopus and ResearchGate were searched for scholarly articles related to guselkumab and its utility in dermatology using the search terms \"Guselkumab\" AND \"Psoriasis\" AND \"other dermatological disorders\".</p><p><strong>Results: </strong>Guselkumab is a valuable biologic agent for the management of psoriasis and psoriatic arthropathy. It has also been used successfully for other dermatologic disorders like hidradenitis suppurativa, lichen planus, pityriasis rubra pilaris and pyoderma gangrenosum. Recently, its utility in Stewart-Treves angiosarcoma (STA) has been exemplified.</p><p><strong>Conclusion: </strong>Guselkumab usage is not limited to psoriasis. Its benefit extends to many more dermatologic conditions. Its utility in STA could open an avenue for its application in the field of oncology. Furthermore, it has an acceptable safety profile.</p>","PeriodicalId":11168,"journal":{"name":"Dermatology practical & conceptual","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11314551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Interleukin-13 Inhibitors in the Treatment of Atopic Dermatitis: The Role of Tralokinumab. 治疗特应性皮炎的白细胞介素-13 抑制剂:特罗凯单抗的作用。
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-07-01 DOI: 10.5826/dpc.1403a204
Annunziata Dattola, Martina Tolone, Emanuele Amore, Luigi Bennardo, Federica Trovato, Simone Amato, Teresa Grieco, Antonio Giovanni Richetta, Giovanni Pellacani, Nevena Skroza, Steven Paul Nisticò

Introduction: The advent of biotechnological drugs has significantly changed the management of atopic dermatitis (AD) and the approach to the moderate-to-severe form of this chronic relapsing disease.

Objectives: The aim of our review is to summarize the current literature on anti-interleukin (IL)-13 in atopic dermatitis.

Methods: A literature search was organized and a systematic review was performed to summarize the most recent evidence supporting the efficacy and safety of tralokinumab.

Results: Tralokinumab (anti-IL-13) 300 mg every 2 weeks subcutaneously has proven effective in several clinical trials in adults and adolescents with moderate to severe atopic dermatitis inadequately controlled with other topical or systemic therapies. Tralokinumab was found to be significantly superior in terms of efficacy in reducing Investigator's Global Assessment (IGA), Eczema Area and Severity Index (EASI) -75, Numeric Pain Rating Scale (NRS) pruritus, and Dermatology Life Quality Index (DLQI) scale numbers. During follow-up, tralokinumab was well tolerated with limited severity of adverse events.

Conclusions: Tralokinumab leads to statistically significant improvements in disease severity and outcome scores. It represents an effective treatment option for adults with moderate to severe AD, but further large-scale studies are needed to verify long-term superiority over other treatments.

简介:生物技术药物的出现极大地改变了特应性皮炎(AD)的治疗方法以及这种慢性复发性疾病的中重度治疗方法:我们的综述旨在总结有关抗白细胞介素(IL)-13治疗特应性皮炎的现有文献:方法:组织文献检索并进行系统综述,总结支持曲洛单抗有效性和安全性的最新证据:特罗凯单抗(抗IL-13)300 毫克,每两周皮下注射一次,已在几项临床试验中证明对其他局部或全身疗法控制不佳的中重度特应性皮炎成人和青少年患者有效。研究发现,曲妥珠单抗在降低研究者总体评估(IGA)、湿疹面积和严重程度指数(EASI)-75、数字疼痛评分量表(NRS)瘙痒程度和皮肤科生活质量指数(DLQI)方面的疗效显著优于其他药物。在随访期间,曲洛单抗的耐受性良好,不良反应的严重程度有限:结论:曲妥珠单抗可在统计学上显著改善疾病的严重程度和疗效评分。结论:曲妥珠单抗能在统计学上显著改善疾病的严重程度和结果评分,是中重度成人注意力缺失症患者的有效治疗选择,但还需要进一步的大规模研究来验证其长期疗效优于其他治疗方法。
{"title":"Interleukin-13 Inhibitors in the Treatment of Atopic Dermatitis: The Role of Tralokinumab.","authors":"Annunziata Dattola, Martina Tolone, Emanuele Amore, Luigi Bennardo, Federica Trovato, Simone Amato, Teresa Grieco, Antonio Giovanni Richetta, Giovanni Pellacani, Nevena Skroza, Steven Paul Nisticò","doi":"10.5826/dpc.1403a204","DOIUrl":"10.5826/dpc.1403a204","url":null,"abstract":"<p><strong>Introduction: </strong>The advent of biotechnological drugs has significantly changed the management of atopic dermatitis (AD) and the approach to the moderate-to-severe form of this chronic relapsing disease.</p><p><strong>Objectives: </strong>The aim of our review is to summarize the current literature on anti-interleukin (IL)-13 in atopic dermatitis.</p><p><strong>Methods: </strong>A literature search was organized and a systematic review was performed to summarize the most recent evidence supporting the efficacy and safety of tralokinumab.</p><p><strong>Results: </strong>Tralokinumab (anti-IL-13) 300 mg every 2 weeks subcutaneously has proven effective in several clinical trials in adults and adolescents with moderate to severe atopic dermatitis inadequately controlled with other topical or systemic therapies. Tralokinumab was found to be significantly superior in terms of efficacy in reducing Investigator's Global Assessment (IGA), Eczema Area and Severity Index (EASI) -75, Numeric Pain Rating Scale (NRS) pruritus, and Dermatology Life Quality Index (DLQI) scale numbers. During follow-up, tralokinumab was well tolerated with limited severity of adverse events.</p><p><strong>Conclusions: </strong>Tralokinumab leads to statistically significant improvements in disease severity and outcome scores. It represents an effective treatment option for adults with moderate to severe AD, but further large-scale studies are needed to verify long-term superiority over other treatments.</p>","PeriodicalId":11168,"journal":{"name":"Dermatology practical & conceptual","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11314215/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Prevalence of CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT Pathogenic Variants in a Single-Center Retrospective Series of Patients With Melanoma and Personal or Family History Suggestive of Genetic Predisposition. 单中心回顾性系列黑色素瘤患者中 CDKN2A、CDK4、POT1、BAP1、MITF、ATM 和 TERT 致病性变异的患病率以及提示遗传倾向的个人或家族史。
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-07-01 DOI: 10.5826/dpc.1403a120
Giada Ferrara, Salvatore Paiella, Giulio Settanni, Melissa Frizziero, Paolo Rosina, Valeria Viassolo

Introduction: Approximately 20%-45% of familial melanoma (FM) cases are associated with genetic predisposition.

Objectives: This single-center retrospective study aimed to assess the frequency of pathogenic variants (PV) in the main melanoma-predisposing genes in patients with cutaneous melanoma and investigate the clinical predictors of genetic predisposition.

Methods: Patients included were those diagnosed with cutaneous melanoma at the Dermatology Unit of the University Hospital of Verona, Italy, from 2000 to 2022, presenting at least one of the followings: multiple melanomas (≥ 3); personal/family history of pancreatic cancer (PC) (up to 2nd-degree relatives); ≥ 2 1st-degree relatives with melanoma; ≥ 1 1st-degree relatives with early-onset (<45 years) melanoma and tested for CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT.

Results: During the study period, 35 out of 1320 patients (2.7%) underwent genetic testing. Four patients (11.4%) harbored a PV in a melanoma-predisposing gene, three in CDKN2A (8.6%), and one in MITF (2.9%). Variants currently classified as being of unknown clinical significance (VUS) were detected in CDKN2A (N = 1), MITF (N = 1), and ATM (N = 2). Family history of PC and ≥5 melanomas, personal history of ≥50 nevi, and ≥4 melanomas were significantly associated with PV in tested genes (P < 0.05).

Conclusions: The prevalence of PV in predisposing genes in FM was lower than previously reported in Italian registries. Possible reasons include deleterious variants in untested intermediate/low-penetrance genes or yet-to-be-discovered high-penetrance genes and environmental risk factors. A family history of PC, a high number of nevi and melanomas predict a monogenic predisposition to melanoma.

简介:约 20%-45% 的家族性黑色素瘤(FM)病例与遗传易感性有关:大约20%-45%的家族性黑色素瘤(FM)病例与遗传易感性有关:这项单中心回顾性研究旨在评估皮肤黑色素瘤患者主要黑色素瘤易感基因中致病变体(PV)的频率,并调查遗传易感性的临床预测因素:方法:纳入的患者为2000年至2022年期间在意大利维罗纳大学医院皮肤科确诊的皮肤黑色素瘤患者,至少具备以下条件之一:多发性黑色素瘤(≥3个);个人/家族有胰腺癌(PC)病史(最多2级亲属);≥2个一级亲属患有黑色素瘤;≥1个一级亲属患有早发黑色素瘤(结果:≥2个一级亲属患有黑色素瘤;≥1个一级亲属患有早发黑色素瘤;≥1个一级亲属患有早发黑色素瘤):在研究期间,1320 名患者中有 35 人(2.7%)接受了基因检测。4名患者(11.4%)携带黑色素瘤易感基因的PV,其中3人携带CDKN2A基因的PV(8.6%),1人携带MITF基因的PV(2.9%)。CDKN2A(1 例)、MITF(1 例)和 ATM(2 例)中的变异目前被归类为临床意义不明(VUS)。PC和≥5个黑色素瘤的家族史、≥50个痣的个人史以及≥4个黑色素瘤与检测基因中的PV显著相关(P<0.05):结论:FM患者易感基因中PV的发生率低于之前意大利登记处的报告。可能的原因包括未检测的中/低风险基因或尚未发现的高风险基因中的有害变异以及环境风险因素。PC家族史、大量痣和黑色素瘤预示着黑色素瘤的单基因易感性。
{"title":"Prevalence of CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT Pathogenic Variants in a Single-Center Retrospective Series of Patients With Melanoma and Personal or Family History Suggestive of Genetic Predisposition.","authors":"Giada Ferrara, Salvatore Paiella, Giulio Settanni, Melissa Frizziero, Paolo Rosina, Valeria Viassolo","doi":"10.5826/dpc.1403a120","DOIUrl":"10.5826/dpc.1403a120","url":null,"abstract":"<p><strong>Introduction: </strong>Approximately 20%-45% of familial melanoma (FM) cases are associated with genetic predisposition.</p><p><strong>Objectives: </strong>This single-center retrospective study aimed to assess the frequency of pathogenic variants (PV) in the main melanoma-predisposing genes in patients with cutaneous melanoma and investigate the clinical predictors of genetic predisposition.</p><p><strong>Methods: </strong>Patients included were those diagnosed with cutaneous melanoma at the Dermatology Unit of the University Hospital of Verona, Italy, from 2000 to 2022, presenting at least one of the followings: multiple melanomas (≥ 3); personal/family history of pancreatic cancer (PC) (up to 2<sup>nd</sup>-degree relatives); ≥ 2 1<sup>st</sup>-degree relatives with melanoma; ≥ 1 1<sup>st</sup>-degree relatives with early-onset (<45 years) melanoma and tested for CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT.</p><p><strong>Results: </strong>During the study period, 35 out of 1320 patients (2.7%) underwent genetic testing. Four patients (11.4%) harbored a PV in a melanoma-predisposing gene, three in CDKN2A (8.6%), and one in MITF (2.9%). Variants currently classified as being of unknown clinical significance (VUS) were detected in CDKN2A (N = 1), MITF (N = 1), and ATM (N = 2). Family history of PC and ≥5 melanomas, personal history of ≥50 nevi, and ≥4 melanomas were significantly associated with PV in tested genes (P < 0.05).</p><p><strong>Conclusions: </strong>The prevalence of PV in predisposing genes in FM was lower than previously reported in Italian registries. Possible reasons include deleterious variants in untested intermediate/low-penetrance genes or yet-to-be-discovered high-penetrance genes and environmental risk factors. A family history of PC, a high number of nevi and melanomas predict a monogenic predisposition to melanoma.</p>","PeriodicalId":11168,"journal":{"name":"Dermatology practical & conceptual","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11314473/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Psoriasis with Leg Involvement as the New Difficult-To-Treat Area: A Cohort Study of Patients Treated With Risankizumab. 腿部受累的银屑病成为新的治疗难点:利桑珠单抗治疗患者的队列研究。
IF 2.5 4区 医学 Q2 DERMATOLOGY Pub Date : 2024-07-01 DOI: 10.5826/dpc.1403a171
Federico Bardazzi, Federica Filippi, Martina Mussi, Claudia Lasagni, Laura Bigi, Giulia Odorici, Francesca Peccerillo, Miriam Rovesti, Francesca Satolli, Michela Tabanelli, Sandra Schianchi, Vito Di Lernia, Marco Manfredini

Introduction: Historically, difficult-to-treat areas in psoriasis included face, scalp, folds, genitalia, nails, and palmoplantar region. Recent studies have found that lower limbs behave like a "new" difficult-to-treat area as they can be the only site of residual disease even in patients undergoing biologic therapies.

Objectives: We aimed to evaluate whether legs had different response rates and response times to treatment with a new biologic drug, risankizumab, compared to other body sites.

Methods: We conducted a real-life, observational, retrospective, multicenter study including patients affected by moderate-to-severe psoriasis with leg involvement and undergoing biological therapy with risankizumab for more than 16 weeks. The Psoriasis Area Severity Index (PASI) and Leg-PASI were collected at T0 and at weeks 16, 28, 40, 52, 64, and 76. Statistical analysis using Student's t test and linear regression analysis were performed.

Results: A total of 124 patients were included. The difference between the improvement percentage compared to baseline was statistically significant at weeks 16 and 28, demonstrating that Leg-PASI improved less than PASI. From the linear regression it was deduced that the slope is statistically less steep for Leg-PASI than for overall PASI, confirming that this site responds more slowly to the therapy.

Conclusions: Leg response to risankizumab appears to differ significantly from other body sites in the first weeks of treatment, even if after 28 weeks, statistical significance is lost. Our preliminary finding suggests that risankizumab can be considered an effective treatment for leg psoriasis but with longer response times than other areas, demonstrating the relative nature of resistance to treatment of this district.

简介:一直以来,银屑病的难治部位包括面部、头皮、皱褶、生殖器、指甲和掌跖。最近的研究发现,下肢是 "新 "的难治部位,因为即使是接受生物疗法的患者,下肢也可能是唯一有残余疾病的部位:我们的目的是评估与身体其他部位相比,腿部对新型生物药物利桑珠单抗治疗的反应率和反应时间是否有所不同:我们进行了一项真实的、观察性的、回顾性的多中心研究,研究对象包括腿部受累的中重度银屑病患者,他们接受利坦珠单抗生物治疗的时间超过16周。在T0和第16、28、40、52、64和76周时收集了银屑病面积严重程度指数(PASI)和腿部PASI。统计分析采用学生 t 检验和线性回归分析:结果:共纳入 124 名患者。与基线相比,第 16 周和第 28 周的改善百分比差异具有统计学意义,这表明腿部-PASI 的改善程度低于 PASI。从线性回归中可以推断出,腿部PASI的斜率在统计学上没有整体PASI那么陡峭,这证实了该部位对治疗的反应更慢:结论:在治疗的最初几周,腿部对利桑单抗的反应似乎与身体其他部位有明显不同,即使在治疗 28 周后,统计意义已经消失。我们的初步研究结果表明,利桑珠单抗可被视为治疗腿部银屑病的有效药物,但与其他部位相比,利桑珠单抗的反应时间更长,这表明该部位的抗药性具有相对性。
{"title":"Psoriasis with Leg Involvement as the New Difficult-To-Treat Area: A Cohort Study of Patients Treated With Risankizumab.","authors":"Federico Bardazzi, Federica Filippi, Martina Mussi, Claudia Lasagni, Laura Bigi, Giulia Odorici, Francesca Peccerillo, Miriam Rovesti, Francesca Satolli, Michela Tabanelli, Sandra Schianchi, Vito Di Lernia, Marco Manfredini","doi":"10.5826/dpc.1403a171","DOIUrl":"10.5826/dpc.1403a171","url":null,"abstract":"<p><strong>Introduction: </strong>Historically, difficult-to-treat areas in psoriasis included face, scalp, folds, genitalia, nails, and palmoplantar region. Recent studies have found that lower limbs behave like a \"new\" difficult-to-treat area as they can be the only site of residual disease even in patients undergoing biologic therapies.</p><p><strong>Objectives: </strong>We aimed to evaluate whether legs had different response rates and response times to treatment with a new biologic drug, risankizumab, compared to other body sites.</p><p><strong>Methods: </strong>We conducted a real-life, observational, retrospective, multicenter study including patients affected by moderate-to-severe psoriasis with leg involvement and undergoing biological therapy with risankizumab for more than 16 weeks. The Psoriasis Area Severity Index (PASI) and Leg-PASI were collected at T0 and at weeks 16, 28, 40, 52, 64, and 76. Statistical analysis using Student's t test and linear regression analysis were performed.</p><p><strong>Results: </strong>A total of 124 patients were included. The difference between the improvement percentage compared to baseline was statistically significant at weeks 16 and 28, demonstrating that Leg-PASI improved less than PASI. From the linear regression it was deduced that the slope is statistically less steep for Leg-PASI than for overall PASI, confirming that this site responds more slowly to the therapy.</p><p><strong>Conclusions: </strong>Leg response to risankizumab appears to differ significantly from other body sites in the first weeks of treatment, even if after 28 weeks, statistical significance is lost. Our preliminary finding suggests that risankizumab can be considered an effective treatment for leg psoriasis but with longer response times than other areas, demonstrating the relative nature of resistance to treatment of this district.</p>","PeriodicalId":11168,"journal":{"name":"Dermatology practical & conceptual","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11314018/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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