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Novel CYLD pathogenic variant associated with multiple cylindromas of the scalp-A case report. 与头皮多发性圆柱状瘤相关的新型 CYLD 致病变体--病例报告。
Q3 Medicine Pub Date : 2024-08-10 eCollection Date: 2024-10-01 DOI: 10.1002/ski2.436
Inês P Amaral, Ivânia Soares, Madalena P Correia, Catarina Correia, Pedro Vasconcelos, Luis S Almeida, Paulo Filipe

Cylindromas are rare, benign adnexal neoplasms primarily found on the scalp and face, with a higher incidence in women and typically manifesting in the second or third decade of life. These tumours can present as single or multiple nodules, with the latter form often linked to CYLD gene mutations, particularly in the context of CYLD cutaneous syndrome. Here, we report a case of a 61-year-old male presenting with multiple cylindromas of the scalp, prompting genetic testing that revealed a novel pathogenic variant in the CYLD gene.

圆柱状瘤是一种罕见的良性附件肿瘤,主要发生在头皮和面部,女性发病率较高,通常表现为生命的第二或第三个十年。这些肿瘤可表现为单发或多发结节,后者通常与 CYLD 基因突变有关,尤其是在 CYLD 皮肤综合征的背景下。在此,我们报告了一例 61 岁男性头皮多发性圆柱状瘤病例,该病例通过基因检测发现了 CYLD 基因中的一种新型致病变体。
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引用次数: 0
Comparison of 3D facial photographs and clinical documentation in patients with craniofacial morphea 颅面病变患者面部 3D 照片与临床文件的比较
Q3 Medicine Pub Date : 2024-08-10 DOI: 10.1002/ski2.438
Tyler T. Nguyen, Stephanie M. Cohen, Katharina S. Shaw, Fatma Dedeoglu, R. A. Vleugels, Ingrid M. Ganske
Diagnosis of craniofacial morphea (CM) relies upon clinical examination of progressive craniofacial changes. We assess the utility of 3D stereophotogrammetry in documenting asymmetry of the face compared to clinical notetaking. This retrospective study of 3D images and clinical documentation included 32 patients (mean age 15.7 years) with CM. A panel of specialists identified additional areas of asymmetry (those highlighted in 3D photographs that were not noted in clinical documentation) and categorised them as likely, ambiguously or unlikely related to CM. 28 patients (87.5%) had asymmetries noted on 3D photos that were not documented in clinical notes. In 46.4% of them, additional areas were deemed consistent with CM. In the remaining patients, additional asymmetries were ambiguous (42.9%) or not thought to be related to CM (10.7%). Our results suggest that adjunctive use of 3D stereophotogrammetry enhances the documentation of CM at discrete clinical time points and therefore could be a better comparative reference during later re‐examination.
颅面病变(CM)的诊断依赖于颅面进行性变化的临床检查。与临床记录相比,我们评估了三维立体摄影测量在记录面部不对称方面的实用性。这项三维图像和临床记录的回顾性研究包括 32 名 CM 患者(平均年龄 15.7 岁)。专家小组确定了额外的不对称区域(三维照片中突出显示但临床记录中未注意到的区域),并将其分为可能、模糊或不可能与 CM 有关。有 28 名患者(87.5%)在三维照片中发现了不对称的部位,但临床记录中并未提及。其中 46.4% 的患者的其他部位被认为与 CM 一致。在其余患者中,额外的不对称部位不明确(42.9%)或被认为与 CM 无关(10.7%)。我们的研究结果表明,辅助使用三维立体摄影测量法可增强在离散临床时间点上对 CM 的记录,因此可作为日后复查时更好的对比参考。
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引用次数: 0
Increased physical activity promotes skin clearance, improves cardiovascular and psychological health, and increases functional capacity in patients with psoriasis 增加体育锻炼可促进皮肤清除,改善心血管和心理健康,提高银屑病患者的功能能力
Q3 Medicine Pub Date : 2024-08-09 DOI: 10.1002/ski2.426
Rory Sheppard, W. K. Gan, Gladys L. Onambele‐Pearson, Helen S. Young
Patients with psoriasis are less physically active compared to age‐matched controls, due to psoriasis‐specific barriers, which significantly limits their ability to benefit from health‐promoting levels of physical activity (PA). In addition, long‐term health outcomes for people with psoriasis are poor and include depression, metabolic syndrome and cardiovascular disease (CVD); presenting a significant challenge to healthcare services.We designed a PA intervention in partnership with patients with psoriasis hypothesising this may have therapeutic utility in the management of psoriasis.Participants with chronic plaque psoriasis were recruited to a single‐centre, 20‐week, prospective cohort study. A wrist‐worn accelerometer (GENEActiv Original; Activinsights Ltd) and a hip‐worn pedometer (Onwalk 900; Decathlon Group) were used objectively measure levels of PA. Our 10‐week PA intervention comprised twice weekly 60‐min walks within three different greenspaces in Greater Manchester, each led by a Sports and Exercise Scientist to deliver a pre‐specified volume/dose of activity. During weeks‐11–20 of the study, participants followed independent activities. Clinical evaluation, including assessment of psoriasis severity, cardiometabolic parameters, psychological wellbeing and functional capacity was made at baseline, week‐10 and ‐20.Sixteen patients with psoriasis completed the study. We observed significantly reduced Psoriasis Area and Severity Index at week‐10 (p = 0.01) and ‐20 (p = 0.001) compared to baseline, with 50% of participants achieving PASI‐50 at week‐20. Dermatology Life Quality Index (DLQI) was significantly reduced at week‐20 (p = 0.04), compared to baseline. Significant reduction in blood pressure at week‐10 (systolic: −7.4 mmHg, p = 0.002; diastolic: −4.2 mmHg, p = 0.03) and ‐20 (systolic: −8.8 mmHg, p = 0.001; diastolic: 4.1 mmHg, p = 0.008) was observed and pulse wave velocity was significantly reduced by week‐20 (p = 0.02), suggesting improvement in cardiovascular health. Despite high prevalence of anxiety and depression at baseline, we documented a significant improvement in wellbeing and psychological health. Functional capacity was significantly enhanced following completion of the study.Increasing PA constitutes a promising therapeutic intervention in the management of psoriasis. Evaluation of our intervention in a clinical trial would help determine clinical utility and establish PA guidelines for patients with psoriasis.
与年龄匹配的对照组相比,银屑病患者由于银屑病特有的障碍而较少参加体育锻炼,这大大限制了他们从促进健康的体育锻炼(PA)中获益的能力。此外,银屑病患者的长期健康状况很差,包括抑郁、代谢综合征和心血管疾病(CVD);这给医疗服务带来了巨大挑战。我们与银屑病患者合作设计了一项体育锻炼干预措施,假设这可能对银屑病的管理有治疗作用。腕戴式加速度计(GENEActiv Original;Activinsights Ltd)和臀部计步器(Onwalk 900;Decathlon Group)用于客观测量患者的活动量水平。我们为期 10 周的活动量干预包括每周两次在大曼彻斯特地区三个不同的绿地中进行 60 分钟的步行,每次都由一名运动和锻炼科学家带领,提供预先指定的活动量/剂量。在研究的第 11-20 周,参与者独立开展活动。16 名银屑病患者完成了这项研究。我们观察到,与基线相比,第 10 周(P = 0.01)和第 20 周(P = 0.001)的银屑病面积和严重程度指数明显降低,50% 的参与者在第 20 周达到 PASI-50。与基线相比,第 20 周时皮肤科生活质量指数(DLQI)明显降低(p = 0.04)。观察到血压在第 10 周(收缩压:-7.4 mmHg,p = 0.002;舒张压:-4.2 mmHg,p = 0.03)和第 20 周(收缩压:-8.8 mmHg,p = 0.001;舒张压:4.1 mmHg,p = 0.008)显著下降,脉搏波速度在第 20 周显著下降(p = 0.02),表明心血管健康得到改善。尽管基线时焦虑和抑郁的发生率很高,但我们记录了福祉和心理健康的显著改善。研究完成后,患者的功能能力明显增强。在临床试验中对我们的干预措施进行评估,将有助于确定临床效用,并为银屑病患者制定PA指南。
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引用次数: 0
Safety and efficacy of ruxolitinib cream for the treatment of vitiligo: A randomised controlled trial secondary analysis at 3 years. 鲁索利替尼乳膏治疗白癜风的安全性和有效性:一项为期3年的随机对照试验二次分析。
Q3 Medicine Pub Date : 2024-08-07 eCollection Date: 2024-12-01 DOI: 10.1002/ski2.404
John E Harris, Amit G Pandya, Mark Lebwohl, Iltefat H Hamzavi, Pearl Grimes, Alice B Gottlieb, Howard L Sofen, Angela Y Moore, Mingyue Wang, Deanna Kornacki, Kathleen Butler, David Rosmarin
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引用次数: 0
Sunscreens: A narrative review. 防晒霜:叙述性回顾。
Q3 Medicine Pub Date : 2024-08-07 eCollection Date: 2024-12-01 DOI: 10.1002/ski2.432
Hamisha Salih, Cristina Psomadakis, Susannah M C George

Sunscreens are topical formulations incorporating filters that protect our skin against ultraviolet radiation (UVR) emitted by the sun. Sunscreen use has been increasingly encouraged to protect against sunburn, skin cancer and photoaging that can occur because of prolonged and cumulative sun exposure. However, sunscreens and their constituent UVR filters have been purported to be problematic themselves. In this narrative review, we will describe the history of sunscreens, types of UVR filters and how sunscreens are classified and rated. We will also explore some of the controversies regarding sunscreens, including concerns about their safety and environmental impact. Awareness of these potential consequences is paramount to the process of informed decision-making.

防晒霜是含有过滤器的局部配方,可以保护我们的皮肤免受太阳发出的紫外线辐射(UVR)。越来越多的人鼓励使用防晒霜来防止晒伤、皮肤癌和光老化,这些都是由于长时间和累积的阳光照射造成的。然而,防晒霜及其成分紫外线过滤器本身就存在问题。在这篇叙述性的回顾中,我们将描述防晒霜的历史,紫外线过滤器的类型以及防晒霜是如何分类和评级的。我们还将探讨一些关于防晒霜的争议,包括对其安全性和环境影响的担忧。对这些潜在后果的认识对知情决策过程至关重要。
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引用次数: 0
Expanding subcutaneous mass on the scalp of an immunocompromised woman. 免疫功能低下的妇女头皮上皮下肿块不断扩大。
Q3 Medicine Pub Date : 2024-08-07 eCollection Date: 2024-12-01 DOI: 10.1002/ski2.437
Ivan Rodriguez, Karen Lam, Simone Montgomery, Shanice McKenzie, Scott Worswick

Acute cutaneous presentations in immunocompromised patients demand careful and thorough evaluation. Here, we present the case of a 26-year-old female with acute myeloid leukaemia undergoing salvage chemotherapy, who developed an acutely expanding subcutaneous mass starting on the frontotemporal scalp to the angle of the jaw. Histopathologic evaluation was consistent with sclerosing fat necrosis with overlying psoriasiform spongiotic dermatitis. Tissue cultures revealed multi-drug resistant Pseudomonas aeruginosa. Given these findings, the patient was diagnosed with infectious panniculitis. This case underscores the necessity of comprehensive diagnostic approaches and multidisciplinary collaboration in managing unusual cutaneous presentations in immunocompromised individuals.

免疫功能低下患者的急性皮肤表现需要仔细和彻底的评估。在此,我们报告一例26岁的女性急性髓性白血病患者,她正在接受补救性化疗,她出现了从额颞叶头皮到下颌角的急性扩张皮下肿块。组织病理学评估与硬化性脂肪坏死相一致,并伴有银屑病海绵状皮炎。组织培养显示多重耐药铜绿假单胞菌。鉴于这些发现,患者被诊断为感染性膜炎。该病例强调了综合诊断方法和多学科合作在处理免疫功能低下个体异常皮肤表现的必要性。
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引用次数: 0
A diagnostic challenge of tongue botryomycosis miming mycetoma-A case report. 模仿真菌瘤的舌肉孢子菌病的诊断难题--病例报告。
Q3 Medicine Pub Date : 2024-08-05 eCollection Date: 2024-10-01 DOI: 10.1002/ski2.433
Emmanuel Edwar Siddig, Ayman Ahmed

Botryomycosis of the tongue is a rare chronic bacterial infection that presents as nodular masses, mimicking other infectious or neoplastic conditions such as mycetoma. A case of an 80-year-old male was presented with painless swelling on the right lateral side of his tongue to the outpatient clinic. Biopsy and microbiological investigations revealed an unexpected Staphylococcus aureus-related botryomycosis. This case highlights the diagnostic challenge for unusual clinical presentations of bacterial infections. Healthcare providers in countries endemic with diseases that manifest similarly should investigate thoroughly to ensure a positive clinical outcome through early diagnosis and effective case management.

舌霉菌病是一种罕见的慢性细菌感染,表现为结节性肿块,与霉菌瘤等其他感染性或肿瘤性疾病相似。门诊接诊了一例 80 岁男性患者,他的舌头右外侧出现无痛性肿胀。活组织检查和微生物学检查显示,他意外患上了与金黄色葡萄球菌相关的肉孢子菌病。本病例凸显了临床表现异常的细菌感染在诊断上的挑战。在有类似表现的疾病流行的国家,医疗服务提供者应进行彻底调查,通过早期诊断和有效的病例管理,确保临床结果良好。
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引用次数: 0
A sporadic diffuse multiple cutaneous leiomyomatosis mimicking plexiform neurofibromatosis: A surgical challenge. 模仿丛状神经纤维瘤病的散发性弥漫性多发性皮肤线粒体病:手术挑战。
Q3 Medicine Pub Date : 2024-08-01 eCollection Date: 2024-10-01 DOI: 10.1002/ski2.414
Gajanand M Antakanavar, Bijaylaxmi Sahoo, Aneet Kaur, Ishu Ghiloria, Ajay Jangid, Bhavishya Shetty

A 32-year-old male presented with diffuse plaques accompanied by multiple large, painful swellings predominantly distributed over the trunk, face and both upper and lower extremities for 11 years. There was no family history of similar complaints. The histopathological examination (HPE), supplemented with special stains confirmed the diagnosis of cutaneous leiomyoma (CL). The immunohistochemical analysis showed a strong expression of smooth muscle actin. The final diagnosis of sporadic diffuse multiple cutaneous leiomyomatosis was made. This presentation of CL is uncommon and resembled plexiform neurofibroma. The clinical diagnosis of this presentation was challenging. Therefore, HPE combined with special stains aided in confirming this surgically challenging rare tumour. In resource-poor settings regular screening is required for early detection of renal cancer and other associated complications.

一名 32 岁的男性出现弥漫性斑块,伴有多处大面积疼痛性肿胀,主要分布在躯干、面部和上下肢,已有 11 年之久。家族中没有类似病史。经组织病理学检查(HPE)并辅以特殊染色,确诊为皮肤良性肌瘤(CL)。免疫组化分析显示,平滑肌肌动蛋白表达很强。最终诊断为散发性弥漫多发性皮肤黏液瘤病。CL的这种表现并不常见,与丛状神经纤维瘤相似。这种表现的临床诊断具有挑战性。因此,HPE结合特殊染色有助于确诊这种具有手术挑战性的罕见肿瘤。在资源匮乏的地区,需要定期进行筛查,以便早期发现肾癌和其他相关并发症。
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引用次数: 0
Angry back 愤怒的背影
Q3 Medicine Pub Date : 2024-07-25 DOI: 10.1002/ski2.428
R.W.D. Ottevanger, Roel E. Genders
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引用次数: 0
Trends in disease severity and quality of life outcome measures in pemphigus clinical trials: A scoping review 丘疹性荨麻疹临床试验中疾病严重程度和生活质量结果测量的趋势:范围综述
Q3 Medicine Pub Date : 2024-07-24 DOI: 10.1002/ski2.429
G. Pathak, Kush Patel, Christopher Wachuku, T. Truong, Priya Agarwal, Babar K. Rao
Pemphigus represents a spectrum of autoimmune‐mediated blistering diseases associated with high morbidity, mortality and reduced quality of life (QoL). Despite an increase in pemphigus clinical trials, the varied instrument measurements of disease severity and QoL outcomes make comparisons between studies challenging. This study aimed to evaluate trends in the use of disease severity and QoL outcome measurements in pemphigus clinical trials. A review of pemphigus clinical trials was conducted using the PubMed, Embase, Cochrane Reviews and ClinicalTrials.gov databases up until September 2023. Only pemphigus randomized clinical trials that assessed at least one disease severity and/or QoL outcome were included. Overall, 53 clinical trials were eligible for this review. All clinical trials evaluated a disease severity outcome, with the Pemphigus Disease Area Index being the most used validated questionnaire (28.3% of trials) and more popular after 2015 (47.8% of trials since). The autoimmune bullous skin disorder intensity score (7.6%) and visual analogue measurements (7.6%) have fallen out of favour. Most studies now include lab parameters (56.5% of trials after 2015), with anti‐desmoglein 1 and 3 antibody levels (30.2%), immunoglobulins (IgG and/or IgM and IgA) (11.3%), and anti‐drug antibody levels (7.6%) being frequently evaluated. A small portion of trials evaluated QoL (26.5% of studies), with the autoimmune bullous quality of life being the most common (15.1%), however QoL utilization as an outcome measure has been increasing since 2015 (61.1% of trials since). Standardising the use of validated outcome measurements allows for better data interpretation, comparability and clinical application of results.
丘疹性荨麻疹是一种由自身免疫介导的水疱性疾病,具有发病率高、死亡率高和生活质量(QoL)下降的特点。尽管丘疹性荨麻疹的临床试验越来越多,但由于疾病严重程度和 QoL 结果的测量工具各不相同,因此对不同研究进行比较具有挑战性。本研究旨在评估丘疹性荨麻疹临床试验中疾病严重程度和 QoL 结果测量方法的使用趋势。我们使用 PubMed、Embase、Cochrane Reviews 和 ClinicalTrials.gov 数据库对截至 2023 年 9 月的丘疹性荨麻疹临床试验进行了回顾。仅纳入了评估至少一种疾病严重程度和/或 QoL 结果的丘疹性荨麻疹随机临床试验。共有 53 项临床试验符合本综述的要求。所有临床试验都评估了疾病严重程度结果,其中丘疹性荨麻疹疾病面积指数是使用最多的有效问卷(占试验的28.3%),在2015年后更受欢迎(占此后试验的47.8%)。自身免疫性大疱性皮肤病强度评分(7.6%)和视觉模拟测量(7.6%)已不再受欢迎。目前,大多数研究都包括实验室参数(2015年后的试验占56.5%),其中抗去疱疹蛋白1和3抗体水平(30.2%)、免疫球蛋白(IgG和/或IgM和IgA)(11.3%)和抗药物抗体水平(7.6%)是经常评估的项目。一小部分试验对生活质量进行了评估(占研究的26.5%),其中自身免疫性牛皮癣患者的生活质量是最常见的(15.1%),但自2015年以来,将生活质量作为结果测量指标的情况一直在增加(自2015年以来占试验的61.1%)。规范使用经过验证的结果测量指标可以更好地解释数据,提高结果的可比性和临床应用。
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引用次数: 0
期刊
Skin health and disease
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