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Non-invasive Analysis of Skin in Recessive Dystrophic Epidermolysis Bullosa Using High-Frequency Ultrasound: A First Case Report. 高频超声对隐性营养不良大疱性表皮松解症皮肤无创分析1例。
IF 3.7 4区 医学 Q1 DERMATOLOGY Pub Date : 2026-01-28 DOI: 10.2340/actadv.v106.adv-2025-0261
Karl Wallblom, Katja Holmgren, Sigrid Lundgren, Torborg Hoppe, Enikö Sonkoly, Artur Schmidtchen
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引用次数: 0
The Role of the Cysteamine Dioxygenase (ADO) Gene in Atopic Dermatitis. 半胱胺双加氧酶基因在特应性皮炎中的作用。
IF 3.7 4区 医学 Q1 DERMATOLOGY Pub Date : 2026-01-27 DOI: 10.2340/actadv.v106.43770
Sailan Wang, Raquel Vaz, Josefin Lysell, Jesper Eisfeldt, Pelin Sahlén, Samina Asad, Carl-Fredrik Wahlgren, Magnus Nordenskjöld, Maria Bradley, Isabel Tapia-Paez

Atopic dermatitis is a chronic inflammatory skin disorder influenced by genetic and environmental factors. A chromosome conformation capture study identified the cysteamine dioxygenase (ADO) gene as being associated with atopic dermatitis in differentiating keratinocytes. We aimed to evaluate the causal and pathophysiological roles of ADO in atopic dermatitis. This study utilized transcriptomic data and immunostaining techniques to analyse ADO expression. Human keratinocyte cell line (HaCat), and zebrafish models were employed to explore the functional role of ADO. RNA sequencing and immunostainings indicated higher ADO expression in lesional skin than in non-lesional skin in atopic dermatitis patients. Moreover, atopic dermatitis patients carrying the risk allele (C) exhibited increased levels of ADO in lesional skin. In vivo, zebrafish embryos with dysregulated ADO expression displayed impaired epidermal morphogenesis, particularly in their tails, along with increased neutrophil infiltration, indicating an inflammatory response. In vitro, alterations in ADO expression in HaCaT cells led to expression changes of proinflammatory cytokines and skin barrier markers. Further, both upregulation and downregulation of ADO were associated with enhanced reactive oxygen species production. These findings suggest that the ADO gene plays a critical role in maintaining skin homeostasis, and its dysregulation contributes to inflammation and compromised skin barrier function in the pathogenesis of atopic dermatitis.

特应性皮炎是一种受遗传和环境因素影响的慢性炎症性皮肤病。一项染色体构象捕获研究发现,半胱胺双加氧酶(ADO)基因与分化角化细胞中的特应性皮炎有关。我们的目的是评估ADO在特应性皮炎中的因果和病理生理作用。本研究利用转录组学数据和免疫染色技术分析ADO的表达。采用人角化细胞系(HaCat)和斑马鱼模型探讨ADO的功能作用。RNA测序和免疫染色显示,在特应性皮炎患者的病变皮肤中,ADO的表达高于非病变皮肤。此外,携带风险等位基因(C)的特应性皮炎患者在病变皮肤中表现出更高的ADO水平。在体内,ADO表达失调的斑马鱼胚胎表现出表皮形态发生受损,特别是在它们的尾巴,同时中性粒细胞浸润增加,表明炎症反应。在体外,HaCaT细胞中ADO表达的改变导致促炎细胞因子和皮肤屏障标志物的表达改变。此外,ADO的上调和下调都与活性氧产生的增强有关。这些发现表明,ADO基因在维持皮肤稳态中起着关键作用,其失调有助于炎症和皮肤屏障功能受损,在特应性皮炎的发病机制中。
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引用次数: 0
National Learning Objectives in Dermatology and Venereology for the New Swedish Medical Programme. 瑞典新医疗方案皮肤病和性病学国家学习目标。
IF 3.7 4区 医学 Q1 DERMATOLOGY Pub Date : 2026-01-23 DOI: 10.2340/actadv.v106.44059
Sam Polesie, John Paoli, Kari Nielsen, Andreas Sonesson, Alexander Shayesteh, Anna Josefson, Charlotta Enerbäck, Emma K Johansson, Torborg Hoppe

Effective medical education relies on clearly defined learning objectives that foster deep and meaningful learning. This article presents a consensus-driven proposal for national learning objectives in dermatology and venereology within Sweden's new medical programme qualifying for licensure. The primary aim is to harmonize educational standards across all medical faculties and to establish a common understanding of the expected level of knowledge and competence at the point of medical licensure. Using a structured approach, existing curricula were analysed and categorized according to a modified version of Bloom's taxonomy. The initial list of objectives and core conditions was then expanded through input from invited educators at all participating medical faculties as well as practising GPs. One designated assessor from each institution independently reviewed the expanded material to determine the expected knowledge level for each condition and to assess whether any items fell outside the intended scope. This process resulted in the identification of 36 learning objectives, along with a list of 124 core diagnoses and/or medications. The learning objectives encompass knowledge, practical skills, and professional attitudes in the management of dermatological and sexually transmitted diseases. The next step is to implement them with the aim of evaluating their impact on dermatology and venereology education. In this future work, student involvement should be prioritized to ensure a learner-centred approach throughout the process.

有效的医学教育依赖于明确定义的学习目标,以促进深入和有意义的学习。这篇文章提出了一个共识驱动的建议,在瑞典的新医疗方案中,皮肤病和性病学的国家学习目标符合执照资格。其主要目的是协调所有医学院的教育标准,并在获得医疗执照时对预期的知识和能力水平达成共识。使用结构化的方法,现有课程根据布鲁姆分类法的修改版本进行分析和分类。随后,通过邀请所有参与的医学院和执业全科医生的教育工作者提供意见,扩大了最初的目标和核心条件清单。每个机构都有一名指定的评估员独立审查扩展的材料,以确定每种情况的预期知识水平,并评估是否有任何项目超出了预期范围。这一过程确定了36个学习目标,以及124项核心诊断和/或药物清单。学习目标包括皮肤病和性传播疾病管理方面的知识、实践技能和专业态度。下一步是实施它们,目的是评估它们对皮肤病学和性病教育的影响。在未来的工作中,应优先考虑学生的参与,以确保在整个过程中采用以学习者为中心的方法。
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引用次数: 0
Higher Doses of Oral Propranolol for Resistant Infantile Haemangio-mas. 高剂量口服心得安治疗顽固性婴儿血管瘤。
IF 3.7 4区 医学 Q1 DERMATOLOGY Pub Date : 2026-01-23 DOI: 10.2340/actadv.v106.43152
Isabelle Dreyfus, Charlène Dénos, Olivia Boccara, Sébastien Barbarot, Véronique Gagey-Caron, Annabel Maruani, Juliette Miquel, Catherine Droitcourt, Michèle Bigorre, Ludovic Martin, Christine Leauté-Labrèze, Juliette Mazereeuw-Hautier

Propranolol at 3 mg/kg/day is considered the gold standard for treating infantile haemangiomas. Nevertheless, the management of propranolol-resistant infantile haemangiomas (PRIH) remains challenging. This national multicentre retrospective observational study includes all PRIHs who received propranolol > 3 mg/kg/day. The study aims to investigate the pattern of PRIHs, assess the effects and tolerance of a higher dose, and identify predictive factors for response to this increased dosage. Fifteen PRIHs were included (prevalence 0.45%), mainly females, and most presented with a large lesion. Three distinct patterns of PRIH were identified: facial segmental lesions (47%), facial localized lesions with a subcutaneous component (40%), and body-localized mixed and ulcerated lesions (13%). Six PRIH (40%) responded to the higher dose (from 3.75 to 4 mg/kg/day). Three predictive factors were significantly associated with a good response: IGIc-IH1 at the end of 3 mg/kg/day regimen (OR = 22.9, 95% CI [1.2-1844.1]), a duration of 3.5 months or more at 3 mg/kg/day (OR = 17.5, 95% CI [1.22-250.37]), and 7 months or more at > 3 mg/kg/day (OR = 17.5, 95% CI [1.22-250.37]). Tolerance was generally good, although one patient experienced severe hypotension during dose escalation. Propranolol doses higher than 3 mg/kg/day may therefore be considered a potential treatment option for PRIHs.

每日3mg /kg的心得安被认为是治疗婴儿血管瘤的黄金标准。然而,治疗耐普萘洛尔的婴儿血管瘤(PRIH)仍然具有挑战性。这项全国性多中心回顾性观察性研究包括所有接受心得安3mg /kg/天的PRIHs患者。本研究旨在探讨prhs的模式,评估高剂量的影响和耐受性,并确定对增加剂量的反应的预测因素。包括15例(患病率0.45%),主要为女性,多数表现为大病变。发现了三种不同类型的PRIH:面部节段性病变(47%),面部局部病变伴有皮下成分(40%),以及身体局部混合和溃疡性病变(13%)。6例(40%)对较高剂量(从3.75至4 mg/kg/天)有反应。三个预测因素与良好反应显著相关:3 mg/kg/天方案结束时IGIc-IH1 (OR = 22.9, 95% CI [1.2-1844.1]), 3 mg/kg/天方案持续3.5个月或更长时间(OR = 17.5, 95% CI [1.22-250.37]), 3 mg/kg/天方案持续7个月或更长时间(OR = 17.5, 95% CI[1.22-250.37])。耐受性一般良好,尽管有一名患者在剂量增加期间出现了严重的低血压。因此,普萘洛尔的剂量高于3mg /kg/天,可被认为是PRIHs的潜在治疗选择。
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引用次数: 0
Patient-reported Itch Outcome Measures for Chronic Pruritus in Dystrophic Epidermolysis Bullosa: Exploratory Analysis of a Phase 2 Randomized Controlled Trial. 营养不良大疱性表皮松解症慢性瘙痒患者报告的瘙痒结果:一项2期随机对照试验的探索性分析。
IF 3.7 4区 医学 Q1 DERMATOLOGY Pub Date : 2026-01-21 DOI: 10.2340/actadv.v106.adv-2025-0139
Utako Okata-Karigane, Emily S Gorell, Pirunthan Pathmarajah, Shufeng Li, Albert S Chiou
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引用次数: 0
An Elderly Man with Fever and a Pustular Eruption: A Quiz. 一位发烧并有脓疱的老人:一个小测验。
IF 3.7 4区 医学 Q1 DERMATOLOGY Pub Date : 2026-01-21 DOI: 10.2340/actadv.v106.adv-2025-0192
Jakob Lillemoen Drivenes, Dag Sollesnes Holsen, Ingeborg Margrethe Bachmann
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引用次数: 0
Unilateral Blaschkolinear Agminated Pigmented Lesion in an 11-year-old Girl: A Quiz. 一个11岁女孩的单侧blaschkol线状膨化色素性病变:一个小测验。
IF 3.7 4区 医学 Q1 DERMATOLOGY Pub Date : 2026-01-21 DOI: 10.2340/actadv.v106.adv-2025-0099
Çetinarslan Tubanur, Şule Yıldız Sağcan Tercan, Peyker Temiz, Mustafa Turhan Şahin, Aylin Türel Ermertcan
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引用次数: 0
Desmoplastic Melanocytic Naevus in a Paediatric Patient: Dermoscopical and Histopathological Findings of a Rare Entity: An Overlooked Diagnosis or a Misnomer? 一名儿科患者的韧带增生性黑素细胞痣:一种罕见实体的皮肤镜和组织病理学发现:是被忽视的诊断还是命名不当?
IF 3.7 4区 医学 Q1 DERMATOLOGY Pub Date : 2026-01-20 DOI: 10.2340/actadv.v106.adv-2025-0074
Tubanur Çetinarslan, Aylin Türel Ermertcan, Peyker Temiz, Regina Fölster-Holst
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引用次数: 0
Primary Cutaneous Adult T-cell Leukaemia/Lymphoma Presenting as Generalized Purpura. 原发性皮肤成人t细胞白血病/淋巴瘤表现为全身性紫癜。
IF 3.7 4区 医学 Q1 DERMATOLOGY Pub Date : 2026-01-20 DOI: 10.2340/actadv.v106.adv-2025-0119
Kazuki Watanabe, Ken Natsuga, Masahiro Onozawa, Toshiro Kikuchi, Hideyuki Ujiie
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引用次数: 0
Perioperative Pembrolizumab in Locally Advanced Melanoma: A Real-world Single-centre Retrospective Study. 局部晚期黑色素瘤围手术期派姆单抗:一项真实世界单中心回顾性研究
IF 3.7 4区 医学 Q1 DERMATOLOGY Pub Date : 2026-01-19 DOI: 10.2340/actadv.v106.adv-2025-0009
Simon Goller, Tassilo Dege, Patrick Schummer, Lukas Haug, Michael Meir, Thomas Gehrke, Detlef Klein, Matthias Goebeler, Hermann Kneitz, Bastian Schilling, Anja Gesierich, Valerie Glutsch

Perioperative immune-checkpoint inhibition (ICI) using pembrolizumab (3 doses of pembrolizumab 200 mg every 3 weeks before surgery and 15 doses afterwards) in advanced resectable melanoma has shown substantial pathological response rates and improved event-free survival (EFS) compared to postoperative (adjuvant) ICI. Real-world evidence on efficacy and safety of perioperative ICI in melanoma remains limited. In this retrospective single-centre study, 20 patients with resectable stage IIIB–IV melanoma were treated with perioperative pembrolizumab. Radiological and pathological responses, early survival outcomes and treatment-related adverse events were analysed at a median follow-up of 13.9 months. Eighteen patients (18/20) underwent surgery. A pathological complete response was observed in 44% (8/18), while 56% (10/18) showed a pathological non-response. No patient (0/18) had a pathological partial response. One-year EFS was 66.5% (95% confidence interval (CI) 47.3-93.3), 1-year relapse-free survival 77.6% (95% CI 57.9-100) and 1-year overall survival 89.2% (95% CI 76.0-100, identical with 1-year melanoma-specific survival). Immune-related adverse events occurred in 50% of the patients (≥grade 3 in 15%). Our study confirms the feasibility of perioperative pembrolizumab in a real-world setting and shows promising efficacy and tolerability in melanoma. Pathological response may guide surgical and adjuvant strategies.

使用派姆单抗治疗晚期可切除黑色素瘤的围手术期免疫检查点抑制(ICI)(术前200 mg每3周3次,术后15次)与术后(辅助)ICI相比,显示出显著的病理反应率和改善的无事件生存期(EFS)。关于黑素瘤围手术期ICI的有效性和安全性的实际证据仍然有限。在这项回顾性单中心研究中,20例可切除的iiib期黑色素瘤患者接受了派姆单抗的围手术期治疗。在中位随访13.9个月时分析放射学和病理反应、早期生存结果和治疗相关不良事件。18例患者(18/20)接受手术治疗。病理完全缓解者占44%(8/18),病理无缓解者占56%(10/18)。无患者(0/18)出现病理性部分反应。1年EFS为66.5%(95%置信区间(CI) 47.3-93.3), 1年无复发生存率为77.6% (95% CI 57.9-100), 1年总生存率为89.2% (95% CI 76.0-100,与1年黑色素瘤特异性生存率相同)。50%的患者发生免疫相关不良事件(15%≥3级)。我们的研究证实了pembrolizumab在现实世界中围手术期的可行性,并显示出对黑色素瘤有希望的疗效和耐受性。病理反应可以指导手术和辅助策略。
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Acta dermato-venereologica
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