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Retinal Vulnerability to Light Pollution in Vitiligo: A Narrative Review of the Role of Melanin Loss in Ocular Phototoxicity. 白癜风患者视网膜对光污染的易感性:黑色素损失在眼部光毒性中的作用的综述。
IF 2.7 3区 医学 Q2 DERMATOLOGY Pub Date : 2025-12-04 DOI: 10.1159/000549698
Maria Ana Contin, Manuel G Bruera, Mohd Nasir Mat Nor, Monica L Acosta

Background: Vitiligo is a condition characterized by the loss of pigmentation in certain areas of the body. It occurs when pigment-producing cells, called melanocytes, die or stop producing melanin, the pigment responsible for skin color. This loss of pigmentation can affect any part of the body, including the lips, hair, and eyes. In the eyes, individuals with vitiligo may present a reduction or absence of pigmentation in the protective pigmentary layer, thereby increasing their susceptibility to light exposure, which raises the question of how does light pollution may affect the vision of individuals with vitiligo.

Summary: This review examines the intersection between light pollution from light-emitting diode (LED) sources and vitiligo, highlighting experimental findings from adult albino rats as a model of ocular depigmentation, exposed to white LED light.

Key messages: We discuss the biological mechanisms of retinal vulnerability in the absence of melanin and the implications for understanding subclinical retinal changes in individuals with vitiligo.

背景:白癜风是一种以身体某些部位色素沉着丧失为特征的疾病。当产生色素的细胞,即黑色素细胞死亡或停止产生黑色素(负责皮肤颜色的色素)时,就会发生这种情况。这种色素沉着的丧失会影响身体的任何部位,包括嘴唇、头发和眼睛。在眼睛中,白癜风患者可能在保护性色素层中出现色素沉着减少或缺失,从而增加了他们对光暴露的易感性,这就提出了光污染如何影响白癜风患者视力的问题。摘要:本文综述了发光二极管(LED)光源的光污染与白癜风之间的关系,重点介绍了成年白化大鼠暴露于白光LED光下的眼部色素沉着模型的实验结果。关键信息:我们讨论了在缺乏黑色素的情况下视网膜易感性的生物学机制,以及理解白癜风患者亚临床视网膜变化的意义。
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引用次数: 0
Application of Skin Barrier Monitoring Technology in the Early Prediction of Incontinence-Associated Dermatitis: A Prospective Observational Study. 应用皮肤屏障监测技术早期预测失禁相关性皮炎:一项前瞻性观察研究。
IF 2.7 3区 医学 Q2 DERMATOLOGY Pub Date : 2025-12-04 DOI: 10.1159/000548722
Lulu Lin, Yuxin Wang, Jijie Jin, Yingyu Wang, Jiaying Lou, Pan Huang, Xiaoqiong Jiang, Qixia Zhang, Fuman Cai

Introduction: Assessing the risk of incontinence-associated dermatitis (IAD) in clinical settings can be subjective, which makes early detection difficult. We aim to verify the ability of skin barrier monitoring technology (SBMT) in predicting IAD.

Methods: This was a cohort study. Using a convenience sampling method, 282 patients who were admitted to adult intensive care units were included in the study and were monitored for 7 days or until the day of IAD (less than 7 days). The risk of IAD was assessed with the perineal assessment tool (PAT), and skin barrier indicators of the perianal area were measured with a skin barrier instrument once a day.

Results: SBMT was better at predicting early IAD than the perineal assessment tool. Relative transepidermal water loss (R-TEWL) was positively correlated with the risk of IAD. Based on the optimal cutoff value for R-TEWL (47.5 g/m2h), the Kaplan-Meier survival curve showed that the incidence of IAD in the high-risk group was 9.701-fold higher than that in the low-risk group (hazard ratio: 9.701, 95% confidence interval: 4.560-20.640; p < 0.001).

Conclusion: SBMT can objectively and accurately predict IAD.

背景:在临床环境中评估尿失禁相关性皮炎(IAD)的风险可能是主观的,这使得早期发现变得困难。我们的目的是验证皮肤屏障监测技术(SBMT)预测IAD的能力。方法:这是一项队列研究。采用方便抽样方法,将330例入住成人重症监护病房的患者纳入研究,监测7天。使用会阴评估工具(PAT)评估IAD的风险,使用皮肤屏障仪(sbi)测量肛周区域皮肤屏障指标(sbi),每天1次。结果:皮肤屏障监测技术比会阴评估工具更能预测早期失禁相关性皮炎。相对经皮失水(R-TEWL)与IAD的发病风险呈正相关。基于R-TEWL最佳临界值(47.5 g/m2h), Kaplan-Meier生存曲线显示,高危组IAD的发生率比低危组高9.701倍(风险比:9.701,95%可信区间:4.56 ~ 20.640);P结论:皮肤屏障监测技术可以客观准确地预测尿失禁相关性皮炎。
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引用次数: 0
Using Artificial Intelligence to Automate the Analysis of Psoriasis Severity: A Pilot Study. 使用人工智能自动分析牛皮癣严重程度:一项试点研究。
IF 2.7 3区 医学 Q2 DERMATOLOGY Pub Date : 2025-11-21 DOI: 10.1159/000549640
Chia-Lun Chou, Chien-Kun Su, Shermein Kyra Dela Cruz, Syu-Jyun Peng

Introduction: The Psoriasis Area and Severity Index (PASI) score is widely used to assess psoriasis severity; however, manual PASI scoring is susceptible to environmental variability and subjective interpretation. This study leverages artificial intelligence to improve the consistency and objectivity of psoriasis severity classification based on features extracted from 2D clinical images.

Methods: This study employed the YOLOv8 deep learning model to classify psoriatic lesions according to the severity of erythema, thickness, and scaling - key subcomponents of the PASI scoring system. Severity was assessed as follows: (0), mild (1), moderate (2), severe (3), or very severe (4). Model training and analysis were conducted in a cloud-based environment (Google Colab) using three different datasets. Stratified k-fold cross-validation was employed to ensure robustness by preserving the distribution of PASI scores across folds. Model performance was assessed using a confusion matrix and accuracy metrics.

Results: In experiments, the YOLOv8 model proved highly effective in classifying psoriasis images based on PASI scores. Stratified k-fold cross-validation was shown to enhance model reliability across diverse datasets.

Conclusions: This study represents a significant advancement in the application of AI to the automated classification of lesion severity based on erythema, thickness, and scaling - key subcomponents of PASI.

银屑病面积和严重程度指数(PASI)评分被广泛用于评估银屑病的严重程度;然而,手动PASI评分容易受到环境变化和主观解释的影响。本研究利用人工智能技术,基于二维临床图像提取特征,提高银屑病严重程度分类的一致性和客观性。方法:本研究采用YOLOv8深度学习模型,根据红斑的严重程度、厚度和分级(PASI评分系统的关键子成分)对银屑病病变进行分类。严重程度评估如下:(0)、轻度(1)、中度(2)、重度(3)或极重度(4)。在基于云的环境(谷歌Colab)中使用三个不同的数据集进行模型训练和分析。采用分层k折交叉验证,通过保留PASI评分跨折分布来确保稳健性。使用混淆矩阵和准确性指标评估模型性能。结果:实验证明,YOLOv8模型基于PASI评分对银屑病图像进行分类是非常有效的。分层k-fold交叉验证被证明可以提高模型在不同数据集上的可靠性。结论:本研究代表了人工智能应用于基于红斑、厚度和PASI关键子成分的病变严重程度自动分类的重大进展。
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引用次数: 0
High-Frequency Ultrasound Quantification of Endophytic Growth Pattern: A Potential Imaging Indicator for Grading Cutaneous Squamous Cell Carcinoma Differentiation. 内生生长模式的高频超声定量:皮肤鳞状细胞癌分化分级的潜在影像学指标。
IF 2.7 3区 医学 Q2 DERMATOLOGY Pub Date : 2025-11-17 DOI: 10.1159/000549537
Dandan Shan, Nanhui Wu, Qiao Wang, Weiwei Ren, Yeqiang Liu, Lehang Guo, Liping Sun

Introduction: Cutaneous squamous cell carcinoma (cSCC) is the second most common type of skin cancer. While most tumors have a positive prognosis, poorly differentiated tumors increase the risk of negative outcomes. Few studies are available on noninvasive methods to determine the level of differentiation of cSCC before surgery. The objective of this study was to determine the degree of differentiation of cSCC using high-frequency ultrasound (HFUS).

Methods: This study included 117 lesions from 117 patients, of which 68 were well-differentiated, 30 were moderately differentiated, and 19 were poorly differentiated cSCC. We analyzed the clinical, appearance, histopathological, and HFUS characteristics of cSCC. The thickness characteristics measured by HFUS included the overall thickness of the tumor, the thickness of the tumor's endophytic part, and the proportion of endophytic thickness to the overall thickness.

Results: The three groups did not show significant differences in their clinical and appearance features (all p > 0.017). However, on HFUS, the lesion total thickness, endophytic proportion, and surface keratinization were the significant features for identifying poorly differentiated cSCC. While a single indicator is not as effective as the combination of all three (all p > 0.05), the diagnostic accuracy of any two or all three indicators together did not show significant differences (p < 0.05).

Conclusions: HFUS can reveal internal morphological details of cSCC lesions, identifying poorly differentiated cSCC by analyzing total lesion thickness, endophytic proportion, and surface hyperkeratinization. Any two of these features can be as effective as using all three to diagnose poorly differentiated cSCC.

背景:皮肤鳞状细胞癌(cSCC)是第二常见的皮肤癌类型。虽然大多数肿瘤预后良好,但低分化肿瘤增加了预后不良的风险。很少有研究可用无创方法确定术前cSCC的分化水平。目的:利用高频超声(HFUS)确定cSCC的分化程度。方法:117例患者117个病变,其中高分化cSCC 68例,中分化cSCC 30例,低分化cSCC 19例。我们分析了cSCC的临床、外观、组织病理学和HFUS特征。HFUS测量的厚度特征包括肿瘤的整体厚度、肿瘤内生部分的厚度以及内生厚度占整体厚度的比例。结果:三组患者临床及外观特征差异无统计学意义(P < 0.05)。然而,在HFUS上,病变总厚度、内生比例和表面角化是鉴别低分化cSCC的重要特征。虽然单一指标不如三者联合有效(均P < 0.05),但任何两个或三个指标一起诊断的准确性没有显着差异(P < 0.05)。结论:HFUS可以揭示cSCC病变内部形态学细节,通过分析病变总厚度、内生比例和表面角化过度来识别低分化cSCC。在诊断低分化cSCC时,其中任何两种特征都可以与全部三种特征一样有效。
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引用次数: 0
Plant Extracts in Rosacea Management: A Narrative Review. 植物提取物在酒渣鼻治疗中的应用综述。
IF 2.7 3区 医学 Q2 DERMATOLOGY Pub Date : 2025-10-03 DOI: 10.1159/000548793
Mathieu Leti, Lucile Garidou, Stéphane V Cuisiat, Aline Stennevin, Gautier Doat, Fabrice Lestienne

Background: Rosacea is a prevalent, chronic inflammatory skin disorder increasingly affecting middle-aged individuals worldwide. Characterized by facial erythema, flushing, papules, pustules, and telangiectasia, rosacea arises from complex, dysregulated immune responses with chronic inflammation and vascular instability. Given its multifactorial nature, treatment approaches focus on managing symptoms and often require a multidisciplinary strategy that integrates targeted skincare, topical and systemic therapies, and physical modalities to address the condition's diverse clinical manifestations, subtypes, and severity effectively. Validated conventional treatments, like metronidazole and azelaic acid, offer symptom relief to varying extents; however, many patients find these therapies insufficient, leading to a growing interest in alternative therapies.

Summary: Dermocosmetic products containing natural ingredients, particularly botanicals, are gaining in popularity, driven not only by their reported anti-inflammatory properties and perceived favorable tolerability, but also because they often appear to align with the personal values and beliefs of many individuals, and offer a more holistic approach to care. This review provides an up-to-date summary of advancements in the use of botanical ingredients for the management of rosacea. By exploring both well-studied botanicals and emerging plant extracts, this review highlights the growing role of natural adjunctive treatments in rosacea care.

Key messages: Emerging clinical evidence suggests that plant-based ingredients may help alleviate rosacea symptoms by modulating inflammation, regulating keratinization, and supporting vascular health, thereby promoting skin restoration, vessel stability, and reduced sensitivity.

酒渣鼻是一种普遍的慢性炎症性皮肤病,越来越多地影响全世界的中年人。酒痤疮以面部红斑、潮红、丘疹、脓疱和毛细血管扩张为特征,是由复杂的、失调的免疫反应与慢性炎症和血管不稳定引起的。鉴于其多因素性质,治疗方法侧重于控制症状,并且通常需要多学科策略,将靶向护肤,局部和全身治疗以及物理模式结合起来,以有效地解决疾病的各种临床表现,亚型和严重程度。经过验证的传统治疗方法,如甲硝唑和壬二酸,可以在不同程度上缓解症状;然而,许多患者发现这些疗法不足,导致对替代疗法的兴趣日益浓厚。含有天然成分的皮肤化妆品,尤其是植物成分,越来越受欢迎,不仅是因为它们具有抗炎特性和良好的耐受性,还因为它们往往与许多人的个人价值观和信仰相一致,并提供更全面的护理方法。新出现的临床证据表明,植物性成分可能通过调节炎症、调节角化和支持血管健康来帮助缓解酒渣鼻症状,从而促进皮肤修复、血管稳定和降低敏感性。这篇综述提供了最新的进展总结在使用植物成分管理酒渣鼻。通过探索充分研究的植物药物和新兴植物提取物,本综述强调了天然辅助治疗在酒渣鼻护理中的作用。
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引用次数: 0
Strategic Targets in Acne, Update 2025: The Microcomedone Is Not Just a Plug, It Is an Egg. 痤疮的战略目标,更新2025:微型粉刺不只是一个插头,它是一个鸡蛋。
IF 2.7 3区 医学 Q2 DERMATOLOGY Pub Date : 2025-09-09 DOI: 10.1159/000547515
Bénédicte Oulès, Jean Hilaire Saurat

Background: Maintaining homeostasis in the upper pilosebaceous unit in acne-prone skin has emerged as the primary goal for effective and long-term acne management.

Summary: In this review, we describe advances in acne research that have helped redefine the strategic targets for new topical acne treatments, providing the basis for new therapeutic strategies that may allow this goal to be achieved.

Key messages: First, we describe the results of studies analyzing apparently uninvolved skin from individuals with acne, using sequential skin surface biopsies. These studies led to the identification of subclinical lesions, referred to as microcomedones, as the root of all subsequent acne lesions, and thus clinically non-lesional acne skin as the strategic target for new acne therapies. We then describe the concept of the comedo switch, in which exposure of progenitor cells in the pilosebaceous unit to comedogenic factors in acne-prone skin leads to the formation of microcomedones. Previously considered as an "inert plug", the microcomedone rather appears to be "an egg" that can grow into acne lesions.

背景:维持痤疮易发皮肤上毛囊皮脂腺单位的稳态已成为有效和长期痤疮管理的主要目标。摘要:在这篇综述中,我们描述了痤疮研究的进展,这些进展有助于重新定义新的局部痤疮治疗的战略目标,为新的治疗策略提供了基础,可能使这一目标得以实现。关键信息:首先,我们描述了使用连续皮肤表面活检分析痤疮个体明显未涉及皮肤的研究结果。这些研究确定了亚临床病变,即微粉刺,是所有后续痤疮病变的根源,因此临床非病变性痤疮皮肤作为新的痤疮治疗的战略目标。然后我们描述了粉刺开关的概念,其中毛囊皮脂腺单位的祖细胞暴露于痤疮易发皮肤中的粉刺形成因素导致微粉刺的形成。以前被认为是“惰性堵塞”的微粉刺看起来更像是“一个鸡蛋”,可以生长成痤疮病灶。
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引用次数: 0
Angiopausin® and Angiopoietin: Unveiling New Mechanisms in Rosacea Treatment through Kinetic Erythema Analysis with the AAREA® Algorithm. 血管生成素®和血管生成素:通过动态红斑分析与AAREA®算法揭示玫瑰痤疮治疗的新机制。
IF 2.7 3区 医学 Q2 DERMATOLOGY Pub Date : 2025-09-05 DOI: 10.1159/000547545
Rayan Arnaout, Oliver Sorg, Nathalie Satta, Cathy Seilaz, Martine von Englebrechten, Jean-Hilaire Saurat

Introduction: Non-transient erythema (NTE) is a major feature of rosacea, but its clinical evaluation is subject to human investigator variability. The angiopoietin-TIE2 receptor tyrosine kinase pathway plays a key role in regulating vascular homeostasis, but was previously overlooked as a target for rosacea therapy. Angiopausin® is a patented plant-based ingredient identified through a molecular phytotherapy screening program as a positive inducer of the angiopoietin-TIE2 pathway, which is the "gatekeeper of vascular quiescence." The objective of this preliminary study was to compare traditional clinical NTE scoring methods with a novel algorithm-assisted approach (AAREA®) aimed at both assessing erythema and exploring the potential scientific interest of analyzing erythema regression patterns in patients with rosacea treated with topical Angiopausin.

Methods: Data were obtained from the regular follow-up of patients with mild-to-moderate rosacea, monitored as part of the real-world "homeostasis in chronic facial dermatosis" registry cohort. Patients were managed exclusively with Angiopausin (applied twice daily) for up to 64 weeks. Facial redness was evaluated clinically using the global investigator erythema assessment (IEA) score and compared to data generated using the algorithm-assisted approach using an ANOVA with post hoc Tukey tests.

Results: Forty-four patients (9 men, 35 women) were included (average follow-up: 29 ± 3 weeks per patient). Reductions in total IEA scores were observed at week 4 (W4; p < 0.05) and through W8 to W64 (p < 0.001). Decreases in individual scores were also observed for flushing, NTE and edema (W4 to W64: p < 0.001), and telangiectasia (W8 to W32; p < 0.001). A high level of agreement (R2 = 0.9566) was observed between the clinical IEA scores and the algorithm-assisted approach. The algorithm-assisted approach also provided quantitative data on redness area and intensity, detected early reductions in NTE, and identified distinctive NTE regression patterns.

Conclusion: This study demonstrated the real-world effectiveness of targeting the angiopoietin-TIE2 pathway for managing rosacea, with topical Angiopausin resulting in significant and long-lasting reductions in NTE and other vascular manifestations. It also highlighted how advances in rosacea therapy can be studied by profiling the clinical effects of treatments using artificial intelligence. The AAREA tool provided valuable data for clinical scoring and research into understanding rosacea pathogenesis.

简介:非短暂性红斑(NTE)是酒渣鼻的主要特征,但其临床评价受制于人类研究者的可变性。血管生成素- tie2受体酪氨酸激酶途径在调节血管稳态中起关键作用,但以前被忽视为酒渣鼻治疗的靶点。Angiopausin®是一种专利植物成分,通过分子植物疗法筛选程序鉴定为血管生成素- tie2途径的积极诱导剂,这是“血管静止的守门人”。这项初步研究的目的是比较传统的临床NTE评分方法与一种新的算法辅助方法(AAREA®),旨在评估红斑,并探索分析局部血管ausin治疗的酒sacea患者红斑消退模式的潜在科学兴趣。方法:数据来自轻至中度酒渣鼻患者的定期随访,作为现实世界“慢性面部皮肤病动态平衡”登记队列的一部分进行监测。患者只接受血管舒张素治疗(每日两次),疗程长达64周。使用全球研究者红斑评估(IEA)评分对面部红肿进行临床评估,并使用随机方差分析和事后Tukey检验将算法辅助方法生成的数据进行比较。结果:共纳入44例患者(男9例,女35例),平均随访时间为29±3周。在第4周(W4; p < 0.05)和W8至W64 (p < 0.001)观察到总IEA评分降低。在潮红、NTE和水肿(W4至W64: p < 0.001)和毛细血管扩张(W8至W32; p < 0.001)方面,个体评分也有所下降。在临床IEA评分和算法辅助方法之间观察到高度一致(R2 = 0.9566)。该算法辅助方法还提供了红肿面积和强度的定量数据,检测了NTE的早期减少,并确定了独特的NTE回归模式。结论:本研究证明了靶向血管生成素- tie2途径治疗酒糟鼻的实际有效性,局部血管生成素可显著且持久地减少NTE和其他血管表现。它还强调了如何通过分析使用人工智能治疗的临床效果来研究酒渣鼻治疗的进展。AAREA工具为临床评分和了解酒渣鼻发病机制的研究提供了有价值的数据。
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引用次数: 0
Plant Extracts in Acne Management: A Narrative Review. 植物提取物在痤疮管理:叙述回顾。
IF 2.7 3区 医学 Q2 DERMATOLOGY Pub Date : 2025-07-07 DOI: 10.1159/000547149
Mathieu Leti, Lucile Garidou, Stéphane V Cuisiat, Aline Stennevin, Gautier Doat, Céline Mias

Background: Acne is a chronic inflammatory skin disease associated with impaired pilosebaceous unit function, leading to the development of noninflammatory and inflammatory lesions and, in some cases, persistent post-inflammatory erythema, hyperpigmentation, and scarring. Acne pathophysiology is complex, involving altered sebum production and composition, abnormal keratinization, microbiome dysbiosis, and skin inflammation. Conventional therapies, such as topical retinoids, antibiotics, and benzoyl peroxide, are the first-line treatments for mild-to-moderate acne, but antibiotic resistance and local adverse effects can have a negative impact on therapeutic outcomes, leading to a growing interest in alternative strategies for disease management. The use of dermocosmetics is increasingly being recognized as a useful strategy to improve treatment outcomes and patient adherence. In particular, there has been a recent increase in research aiming to identify natural plant-based ingredients with properties that target the multiple pathogenic mechanisms involved in acne but which have less impact on skin barrier function.

Summary: This review provides a summary of the anti-acne properties of the most well-characterized plant extracts and phytocompounds used in dermocosmetic anti-acne products, based on insights gained from in vitro, ex vivo, and in vivo studies. Evidence gained from clinical trials evaluating the effectiveness and safety of topical formulations containing these herbal ingredients is also presented. Finally, several less well-characterized herbal extracts and phytocompounds with promising anti-acne properties are described.

Key messages: Although research is ongoing for many of the anti-acne herbal ingredients identified so far, this review highlights the effectiveness of topical plant-based formulations for reducing lesion counts and disease severity in acne patients, as well as the rebalancing effects of herbal ingredients on sebum composition, microbial diversity, and pilosebaceous unit cell differentiation. Taken together with the antibiofilm, anti-inflammatory, antioxidant, and skin barrier repair properties demonstrated for many of these extracts, current evidence suggests that dermocosmetics with plant-based ingredients show great promise for acne management, either as monotherapies, maintenance treatments, or in combination with conventional drugs.

背景:痤疮是一种慢性炎症性皮肤病,与毛囊皮脂腺单位功能受损相关,可导致非炎症性和炎症性病变的发展,在某些情况下,可导致持续的炎症后红斑、色素沉着和瘢痕形成。痤疮的病理生理是复杂的,包括皮脂生成和组成的改变、角化异常、微生物群失调和皮肤炎症。常规疗法,如局部类维生素a、抗生素和过氧化苯甲酰,是轻度至中度痤疮的一线治疗方法,但抗生素耐药性和局部不良反应可能对治疗结果产生负面影响,导致人们对疾病管理替代策略的兴趣日益浓厚。皮肤化妆品的使用越来越被认为是改善治疗结果和患者依从性的有效策略。特别是,最近有越来越多的研究旨在确定天然植物成分,这些成分具有针对痤疮涉及的多种致病机制的特性,但对皮肤屏障功能的影响较小。摘要:本综述基于体外、离体和体内研究的见解,总结了皮肤美容抗痤疮产品中最具特征的植物提取物和植物化合物的抗痤疮特性。从临床试验中获得的证据评估的有效性和安全性的局部配方含有这些草药成分也提出。最后,几种不太好表征的草药提取物和植物化合物与有希望的抗痤疮特性进行了描述。虽然到目前为止,许多抗痤疮草药成分的研究仍在进行中,但这篇综述强调了局部植物性配方在减少痤疮患者病变计数和疾病严重程度方面的有效性,以及草药成分对皮脂成分、微生物多样性和皮脂腺单位细胞分化的再平衡作用。结合这些提取物所显示的抗菌膜、抗炎、抗氧化和皮肤屏障修复特性,目前的证据表明,含有植物成分的皮肤化妆品无论是作为单一疗法、保养治疗,还是与传统药物联合使用,对痤疮的治疗都有很大的希望。
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引用次数: 0
Ehlers-Danlos Syndromes and Related Disorders: Diagnostic Challenges and the Need for an Interdisciplinary Patient Care in Germany. 埃勒-丹洛斯综合征和相关疾病:诊断挑战和需要跨学科的病人护理在德国。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2025-01-01 Epub Date: 2024-12-10 DOI: 10.1159/000542026
Nikolaus Kernich, Franziska Peters, Julia Schreml, Oliver Semler, Manuel Koch, Eckhard Schönau, Michael Huntgeburth, Peer Eysel, Thomas Krieg, Esther von Stebut-Borschitz, Iliana Tantcheva-Poór

Introduction: Ehlers-Danlos syndromes (EDS) represent a group of heritable connective tissue disorders characterized by skin hyperelasticity, joint hypermobility and generalized tissue fragility. Many patients remain undiagnosed years after initial symptoms and an accurate diagnosis is difficult despite all efforts. Currently, Germany lacks a patient registry and a specialized EDS centre.

Methods: In early 2020, a dermatological-orthopaedic EDS outpatient service was established at the University Hospital of Cologne. Medical records of all patients presenting in 2020 were retrospectively analysed.

Results: Forty-three adults were examined. Fifteen patients were diagnosed with EDS (different types), 13 with hypermobility spectrum disorder, and 1 with likely Loeys-Dietz syndrome (LDS) based on patient history and a suspicious variant in the gene TGFBR1. Excluding hypermobile EDS (6 patients), molecular confirmation was achieved in a total of 4 of 9 patients. The combination of symptomatic generalized hypermobility and skin manifestations was diagnostic in more than two-thirds of the EDS patients. Arterial involvement (aneurysms, dissection and rupture) and distinctive cutaneous signs (thin translucent skin with haematomas) indicated vascular EDS and LDS in altogether 3 patients.

Conclusion: With the present analysis, we discuss our diagnostic approach in patients with a suspected diagnosis of EDS in order to raise awareness of this rare group of genodermatoses and review recent developments in EDS nosology.

简介:ehers - danlos综合征(EDS)是一组遗传性结缔组织疾病,其特征是皮肤过度弹性、关节过度活动和全身组织脆弱。许多患者在出现最初症状数年后仍未得到诊断,尽管做出了所有努力,但准确诊断仍很困难。目前,德国缺乏患者登记和专门的EDS中心。方法:2020年初,在科隆大学医院建立了皮肤科骨科EDS门诊。回顾性分析2020年所有患者的医疗记录。结果:共检查43例成人。根据患者病史和TGFBR1和TGFBR1基因的可疑变异,15例患者被诊断为EDS(不同类型),13例患有多动谱系障碍(HSD), 1例可能患有Loeys-Dietz综合征(LDS)。排除过度移动EDS(6例),9例患者中有4例获得分子确证。在超过三分之二的EDS患者中,症状性全身性多动和皮肤表现的结合是诊断性的。动脉受累(动脉瘤,夹层和破裂)和独特的皮肤征象(薄半透明的皮肤有血肿)表明血管性EDS和LDS共3例。结论:通过本文的分析,我们讨论了疑似EDS患者的诊断方法,以提高人们对这一罕见的遗传性皮肤病的认识,并回顾了EDS分类学的最新进展。
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引用次数: 0
Identification of Risk Factors Associated with Metabolic Dysfunction-Associated Steatotic Liver Disease in Psoriatic Patients. 确定与银屑病患者代谢功能障碍相关的脂肪肝风险因素。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2025-01-01 Epub Date: 2024-11-13 DOI: 10.1159/000541796
Kirley Küçük, Christophe Moreno, Hassane Nijmi, Mathieu Daoud, Dillon Mintoff, Fabienne Willaert, Farida Benhadou

Introduction: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a common cause of chronic liver disease. Patients suffering from psoriasis are at an increased risk of developing MASLD. Psoriasis and MASLD share a pro-inflammatory cytokine milieu; however, it is still unclear whether these conditions are related through shared metainflammatory processes or shared comorbidities such as obesity, diabetes, insulin resistance, and metabolic syndrome. The aim of our study was to better characterize the anthropometric and metabolic profile of psoriatic patients with MASLD.

Methods: We conducted a prospective, single-center, cross-sectional study between June 2014 and August 2017. Recruitment was restricted to adult patients with psoriasis. Blood analysis, liver ultrasonography, and a FibroScan were performed. Blood investigations, baseline anthropometric measurements, and components of fatty liver disease (hepatic ultrasound, FibroScan) were assessed.

Results: A total of 100 patients were recruited, of which, 43% (65.1% men, n = 28) were diagnosed with MASLD. The mean BMI was significantly higher in MASLD than in non-MASLD (27.7 kg/m2 vs. 30.1 kg/m2, p =< 0.001). The mean waist circumference in MASLD patients was significantly higher than in non-MASLD patients (105.6 cm vs. 97.2 cm, p = 0.005). There was no significant difference between the mean age of both patient groups (50.4 vs. 47.3 years, p = 0.26). Psoriatic arthritis was more prevalent in MASLD than in the non-MASLD group (14.3% vs. 1.8%, p = 0.004). Biochemical analysis revealed significantly higher C-peptide level in patients with MASLD compared with patients without MASLD (2.5 vs. 1.6 ng/mL, p = 0.036). Moreover, MASLD patients were found to have a lower HDL level and higher glycemia, triglyceridemia, cholesterol, and LDL levels than non-MASLD patients. A total of 16.3% of patients with MASLD had fibrosis stage ranging from F2 to F4 based on liver stiffness measurement compared with only 10.6% of patients without MASLD.

Discussion: We identified parameters which were more prevalent in patients with psoriasis having MASLD, specifically a high BMI, elevated triglyceride levels, decreased HDL levels, and an elevated level of C-peptide. Patients with psoriasis and MASLD were more likely to suffer from comorbid psoriatic arthritis, despite having similar psoriasis disease severity as measured by PASI.

Conclusion: This study highlights the importance of screening patients with psoriasis for MASLD to prevent the progression to liver fibrosis.

简介代谢功能障碍相关性脂肪性肝病(MASLD)是慢性肝病的常见病因。银屑病患者罹患代谢性脂肪肝的风险增加。银屑病和脂肪性肝病具有共同的促炎细胞因子环境,但目前还不清楚这两种疾病是否通过共同的变态反应过程或共同的合并症(如肥胖、糖尿病、胰岛素抵抗和代谢综合征)而相互关联。我们的研究旨在更好地描述 MASLD 银屑病患者的人体测量和代谢特征:我们在 2014 年 6 月至 2017 年 8 月期间开展了一项前瞻性、单中心、横断面研究。招募对象仅限于成年银屑病患者。进行了血液分析、肝脏超声波检查和纤维扫描。对血液检查、基线人体测量和脂肪肝的组成部分(肝脏超声波、纤维扫描)进行了评估:结果:共招募了 100 名患者。结果:共招募了 100 名患者,其中 43%(65.1% 为男性,n=28)被确诊为 MASLD。MASLD患者的平均体重指数(BMI)明显高于非MASLD患者(27.7kg/m2 vs 30.1kg/m2,p=讨论:我们发现了在患有银屑病的 MASLD 患者中更为普遍的参数,特别是高体重指数、甘油三酯水平升高、高密度脂蛋白水平降低和 C 肽水平升高。银屑病患者和MASLD患者更有可能同时患有银屑病关节炎,尽管根据PASI衡量的银屑病病情严重程度相似:本研究强调了对银屑病患者进行MASLD筛查以防止其发展为肝纤维化的重要性。
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