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A red nodule in the umbilicus of an older man. 一位老人脐部的红色结节。
Q3 Medicine Pub Date : 2025-04-29 eCollection Date: 2025-04-01 DOI: 10.1093/skinhd/vzaf018
Sarah Winter, Sally Ashton, Daniel Housa, Avad Mughal

This case report describes an interesting example of a syringocystadenoma papilliferum lesion presenting in a 72-year-old man. He presented with a 10-month history of a red nodule in his umbilicus with unexplained weight loss and reduced appetite. The patient had a background of chronic obstructive pulmonary disease, treated prostate cancer and pemphigus vulgaris that had previously been treated with azathioprine. The nodule would occasionally bleed with trauma, but there were otherwise no associated symptoms. Physical examination revealed a 12 × 12 mm firm red nodule within the umbilicus with some creamy exudate overlying it. Given the clinical presentation, differentials at the time included Sister Mary Joseph nodule, amelanotic melanoma and pyogenic granuloma. A shave biopsy was arranged to help diagnose the nodule and further investigations including computed tomography (CT) and colonoscopy were undertaken. CT and colonoscopy did not indicate any sinister pathology. Histopathological findings demonstrated mildly cystic invaginations arising from a papillomatous epidermis that were lined by rows of cuboidal-to-columnar epithelial cells, with oval nuclei and a pale eosinophilic cytoplasm with squamous metaplasia. The stroma contained a dense mononuclear infiltrate, which was comprised predominantly of plasma cells and lymphocytes. The histopathological findings were of syringocystadenoma papilliferum. This report discusses the clinical and histopathologicial presentation of syringocystadenoma papilliferum and the investigations and management to consider with this diagnosis. We also discuss the various differentials that should be considered for a red nodule in the umbilicus.

这个病例报告描述了一个有趣的例子,一名72岁的男性出现了脊髓囊腺瘤乳头状瘤病变。患者有10个月脐部红色结节病史,体重减轻,食欲下降,原因不明。该患者有慢性阻塞性肺疾病、前列腺癌和寻常性天疱疮的背景,此前曾用硫唑嘌呤治疗。结节偶尔会出血,但没有其他相关症状。体格检查发现脐内有一个12 × 12毫米的硬红色结节,上面有乳状渗出物。鉴于临床表现,当时的鉴别包括玛丽约瑟夫修女结节、无色素黑色素瘤和化脓性肉芽肿。安排刮刀活检以帮助诊断结节,并进行进一步的检查,包括计算机断层扫描(CT)和结肠镜检查。CT和结肠镜检查未发现任何险恶病理。组织病理学结果显示,乳突状表皮呈轻微囊性内陷,上皮细胞排列成一排排的立方体到柱状上皮细胞,细胞核呈卵圆形,细胞质呈淡色嗜酸性,伴有鳞状化生。基质含有致密的单核浸润,主要由浆细胞和淋巴细胞组成。组织病理学结果为乳头状淋巴管囊腺瘤。本文讨论了乳头状囊腺瘤的临床和组织病理学表现,以及诊断时应考虑的检查和处理。我们还讨论了脐红色结节应考虑的各种差异。
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引用次数: 0
Can oral minoxidil be the game changer in androgenetic alopecia? A comprehensive review and meta-analysis comparing topical and oral minoxidil for treating androgenetic alopecia. 口服米诺地尔能改变雄激素性脱发吗?比较外用和口服米诺地尔治疗雄激素性脱发的综合综述和荟萃分析。
Q3 Medicine Pub Date : 2025-04-25 eCollection Date: 2025-04-01 DOI: 10.1093/skinhd/vzaf009
Faizan Fazal, Bilal Haider Malik, Haris Mumtaz Malik, Beenish Sabir, Haris Mustafa, Mushood Ahmed, Areesha Abid, Maham Leeza Adil, Umar Shafi, Muhammad Saad

Androgenetic alopecia (AGA) is a hair disorder seen in both sexes. Its aetiology is multifactorial. Treating AGA has always been a challenge for dermatologists. Only a few drugs such as topical minoxidil and finasteride are U.S. Food and Drug Administration-approved for treating AGA. Thus, looking for new and more effective treatment options for AGA is imperative. This review was conducted to compare the efficacy of oral with topical minoxidil in treating AGA. Only clinical trials that compared oral with topical minoxidil in treating AGA were included in this review. PubMed, Cochrane, Scopus and ClinicalTrials.gov were searched. A total of 2063 studies were retrieved from the databases. Four studies met the inclusion criteria and were included in this systematic review. Outcomes such as hair density, terminal hair density, hair count, global photographic assessment and negative hair pull were studied in this review. The results showed that there was no significant difference between oral and topical minoxidil in terms of improving the hair density of patients with AGA (overall mean difference 0.95, 95% confidence interval -24.98 to 26.87). Two studies showed that the mean difference in terminal hair density was greater in patients treated with oral minoxidil, but there was no significant difference between the two treatments in terms of improving terminal hair density. The efficacy of oral minoxidil is comparable to that of topical minoxidil in terms of improving hair density and terminal hair density in patients with AGA. Oral minoxidil can be used as an adjunct or as a second-line treatment option for AGA.

雄激素性脱发(AGA)是一种男女皆有的头发疾病。其病因是多因素的。治疗AGA对皮肤科医生来说一直是一个挑战。只有少数药物,如局部米诺地尔和非那雄胺,被美国食品和药物管理局批准用于治疗AGA。因此,寻找新的更有效的AGA治疗方案势在必行。本综述旨在比较口服米诺地尔与外用米诺地尔治疗AGA的疗效。只有比较口服米诺地尔与外用米诺地尔治疗AGA的临床试验被纳入本综述。检索了PubMed、Cochrane、Scopus和ClinicalTrials.gov。从数据库中共检索到2063项研究。四项研究符合纳入标准,被纳入本系统综述。本综述研究了发密度、终末发密度、发数、全摄评估和阴性拔毛等结果。结果显示,口服米诺地尔与外用米诺地尔在改善AGA患者毛发密度方面无显著差异(总体平均差值0.95,95%可信区间为-24.98 ~ 26.87)。两项研究表明,口服米诺地尔治疗的患者终末毛密度的平均差异更大,但两种治疗在改善终末毛密度方面无显著差异。在改善AGA患者的发密度和终末发密度方面,口服米诺地尔与外用米诺地尔的疗效相当。口服米诺地尔可作为AGA的辅助治疗或二线治疗选择。
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引用次数: 0
Efficacy and safety of microneedling with topical insulin compared with placebo in the treatment of atrophic scars: a prospective study and literature review. 外用胰岛素微针与安慰剂治疗萎缩性疤痕的疗效和安全性比较:一项前瞻性研究和文献综述。
Q3 Medicine Pub Date : 2025-04-23 eCollection Date: 2025-08-01 DOI: 10.1093/skinhd/vzaf032
Bushra Karkour, Sedra Abu Ghedda, Rashed Aljundi, Sedra Sheikh Debs, Reem Farwati, Silva Ishkhanian

Background: Atrophic scars, which affect many individuals and arise from various causes, currently lack a standardized treatment protocol. Recent studies suggest that combining microneedling with topical insulin (TI) may offer a promising new approach to improving the appearance of these scars.

Objectives: To evaluate the efficacy and safety of microneedling combined with TI for treating atrophic scars caused by acne, cutaneous leishmaniasis, striae alba and postoperative wounds. Additionally, we aimed to assess the impact of treatment on improving quality of life.

Methods: A total of 158 patients with various types of atrophic scars were divided into two groups: one received microneedling with TI and the other received microneedling with a placebo. Each participant underwent 12 monthly sessions, followed by a 1-year follow-up to assess long-term outcomes. Primary outcomes were measured via the Goodman and Baron qualitative grading system and acne scarring grading system, along with patient satisfaction and Dermatology Life Quality Index scores.

Results: A statistically significant improvement was observed in the TI group, as reported by patients and clinicians, especially regarding postacne and postleishmaniasis scars (P = 0.001). The improvement in quality of life was most pronounced in the postacne group (P = 0.002).

Conclusions: This study suggests that microneedling, when combined with TI, is a safe and effective standalone treatment for atrophic scars resulting from various causes. Additionally, this approach may enhance the quality of life for patients with this condition. However, further research with larger sample sizes is needed to validate these findings.

背景:萎缩性疤痕影响许多个体,由各种原因引起,目前缺乏标准化的治疗方案。最近的研究表明,结合微针与局部胰岛素(TI)可能提供一个有希望的新方法来改善这些疤痕的外观。目的:评价微针联合TI治疗痤疮、皮肤利什曼病、白纹及术后创面所致萎缩性疤痕的疗效和安全性。此外,我们旨在评估治疗对改善生活质量的影响。方法:将158例不同类型萎缩性瘢痕患者分为两组,一组采用TI微针治疗,另一组采用安慰剂微针治疗。每位参与者接受了12个月的疗程,随后进行了1年的随访以评估长期结果。主要结果通过Goodman和Baron定性评分系统和痤疮疤痕评分系统,以及患者满意度和皮肤科生活质量指数评分来衡量。结果:根据患者和临床医生的报告,TI组有统计学上显著的改善,特别是痤疮后和利什曼病后疤痕(P = 0.001)。痤疮后组的生活质量改善最为明显(P = 0.002)。结论:本研究提示微针联合TI治疗各种原因导致的萎缩性疤痕是一种安全有效的独立治疗方法。此外,这种方法可以提高患者的生活质量。然而,需要更大样本量的进一步研究来验证这些发现。
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引用次数: 0
Cutaneous small vessel vasculitis in the COVID-19 era: a systematic review. COVID-19时代皮肤小血管炎:系统综述
Q3 Medicine Pub Date : 2025-04-22 eCollection Date: 2025-04-01 DOI: 10.1093/skinhd/vzaf004
Katherine Oakley Olson, Siddharth Patel, Prutha Pathak, Lucy Page Kelly, Mc Anto Antony, Mrudula Thiriveedi

Background: Dermatological adverse effects may occur after COVID-19 infection or vaccine administration. Since the beginning of the pandemic, several case reports and systematic reviews have been published on vasculitis associated with both COVID-19 infection and vaccination. Fever, malaise, urticaria, and rash are common symptoms of COVID-19. These symptoms can also occur as adverse reactions to COVID-19 vaccines. However, the occurrence of serious autoimmune reactions due to COVID-19 infection or its vaccine is rare. Cutaneous small vessel vasculitis (CSVV) is an autoimmune disorder that manifests with palpable purpura and petechiae involving the extremities. It results from neutrophilic inflammation within and around dermal vessels and is usually self-limited.

Objective: We provide a thorough systematic review on CSVV occurring in the COVID-19 era.

Methods: We followed the PRISMA 2020 checklist for systematic review, searching PubMed, Google Scholar, Cochrane, and Embase. We included case reports, case series, correspondence articles, and letters to the editor written in English. Characteristics of each were then summarized and analyzed.

Results: 39 cases were included in our review - 27 due to the COVID-19 vaccine and 12 due to COVID-19 infection. Mean age of onset was similar, but mean time to onset was sooner in the vaccination group. Common treatments included systemic steroids, and almost all patients experienced complete recovery with the exception of a few patients in the COVID-19 infection cohort.

Conclusion: While most cases are self-limiting and resolve with no long-term sequalae, the occurrence of more severe reactions appears to be associated with COVID-19 infection rather than with vaccination.

背景:COVID-19感染或接种疫苗后可能发生皮肤不良反应。自大流行开始以来,已就与COVID-19感染和疫苗接种相关的血管炎发表了若干病例报告和系统综述。发烧、不适、荨麻疹和皮疹是COVID-19的常见症状。这些症状也可能是COVID-19疫苗的不良反应。然而,由于COVID-19感染或其疫苗而发生严重自身免疫反应的情况很少见。皮肤小血管炎(CSVV)是一种自身免疫性疾病,表现为可触及的紫癜和累及四肢的瘀点。它是由皮肤血管内和周围的中性粒细胞炎症引起的,通常是自限性的。目的:对COVID-19时代发生的csv进行全面系统的综述。方法:我们按照PRISMA 2020检查表进行系统评价,检索PubMed、谷歌Scholar、Cochrane和Embase。我们收录了用英语写的病例报告、病例系列、通信文章和给编辑的信。然后对每一种的特点进行总结和分析。结果:39例纳入我们的综述,其中27例因接种COVID-19疫苗,12例因COVID-19感染。平均发病年龄相似,但接种组的平均发病时间更早。常见的治疗方法包括全身性类固醇,除了COVID-19感染队列中的少数患者外,几乎所有患者都完全康复。结论:虽然大多数病例是自限性的,且无长期后遗症,但更严重的反应的发生似乎与COVID-19感染有关,而不是与疫苗接种有关。
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引用次数: 0
Oral and topical vitamin D treatment strategies in psoriasis. 口服和外用维生素D治疗银屑病的策略。
Q3 Medicine Pub Date : 2025-04-22 eCollection Date: 2025-06-01 DOI: 10.1093/skinhd/vzaf010
Michelle Mai, Ingrid Lazaridou, Fatima N Mirza, Karen H Costenbader, Abrar A Qureshi, Eunyoung Cho

Psoriasis is a prevalent skin disorder affecting approximately 2-3% of the population in the USA. Its complex and varied presentations necessitate a diverse range of available therapeutic options. While topical corticosteroid therapy is conventionally employed as first-line treatment, long-term usage increases the risk of adverse events, prompting the consideration of alternatives including steroid-sparing agents such as vitamin D. In this article, we review literature from topical and oral vitamin D trials for the treatment of psoriasis. Topically, vitamin D analogues have been well established as an effective long-term treatment, particularly when used in combination with other therapies. Moreover, combination therapy with immunomodulators such as apremilast and methotrexate has shown promise as well. Conversely, oral vitamin D supplementation trials have yielded more inconsistent results, with some supplementation clinical trials showing significant psoriasis resolution and others showing no significant changes in psoriasis outcome. Vitamin D deficiency status, seasonal variation and body mass index were factors that may have modulated the therapeutic effect of vitamin D supplementation. Further study combining vitamin D supplementation with pre-existing treatments may also augment the effect of monotherapy. Studies on the synergistic effects of combination therapies with oral vitamin D or the development of foam-based or microneedle drug delivery systems may be promising next steps.

牛皮癣是一种普遍的皮肤病,影响了美国约2-3%的人口。其复杂多样的表现需要多种可用的治疗选择。虽然局部皮质类固醇治疗通常被用作一线治疗,但长期使用会增加不良事件的风险,促使人们考虑使用类固醇保留剂(如维生素D)等替代品。在本文中,我们回顾了局部和口服维生素D治疗牛皮癣的文献。局部而言,维生素D类似物已被证实是一种有效的长期治疗方法,特别是与其他治疗方法联合使用时。此外,与免疫调节剂如阿普雷米司特和甲氨蝶呤联合治疗也显示出希望。相反,口服维生素D补充试验得出的结果更不一致,一些补充临床试验显示银屑病的显著缓解,而另一些临床试验显示银屑病的预后没有显著变化。维生素D缺乏状态、季节变化和身体质量指数可能是调节维生素D补充治疗效果的因素。进一步的研究将维生素D补充与已有的治疗结合起来也可能增强单一治疗的效果。研究口服维生素D联合疗法的协同效应或开发基于泡沫或微针的给药系统可能是有希望的下一步。
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引用次数: 0
Skin cancer screening practices of UK hairdressers and barbers for their customers: a preliminary study. 英国理发师和理发师为顾客进行皮肤癌筛查的做法:一项初步研究。
Q3 Medicine Pub Date : 2025-04-22 eCollection Date: 2025-06-01 DOI: 10.1093/skinhd/vzaf015
Helen Fleming, Chris Wells, Andrew Williams, Rebecca Stores

Background: Head-and-neck skin cancers have a worse prognosis than those that develop elsewhere on the body. Self-screening this area for suspicious skin changes can be difficult. Hairdressers and barbers observe this area closely during hair appointments and could bring their customers' attention to suspicious skin changes earlier.

Objectives: To investigate a sample of UK hairdressers' and barbers' skin cancer education, customer screening practices and influences on screening, and to compare hairdressers' and barbers' screening practices.

Methods: Stratified random sampling was utilized to select hairdressers and barbers working in a UK city. Participants were invited to complete a survey.

Results: Thirty-seven participants completed the survey. Five per cent reported having had skin cancer awareness training and 24% were screening customers. Thirty-five per cent had advised a customer of a suspicious mole or skin lesion; of these participants, 39% had had customers diagnosed with skin cancer. 'Not having received training' was reported by 65% of participants as a deterrent to screening. Knowing someone who had experienced skin cancer was significantly associated with screening and advising customers of suspicious skin changes. Most participants (92%) indicated they would like, or maybe like, skin cancer awareness training.

Conclusions: In this UK city study, perceived knowledge of the signs and symptoms of skin cancer appeared to arise from knowing someone who had experienced skin cancer rather than formal training. Lack of skin cancer education was a deterrent to screening, but most participants would like training. Trained hairdressers and barbers could potentially provide regular head-and-neck skin screening for customers.

背景:头颈部皮肤癌的预后比身体其他部位的预后差。对这一区域的可疑皮肤变化进行自我筛查是很困难的。美发师和理发师在理发时密切观察这一区域,可以让顾客更早地注意到可疑的皮肤变化。目的:调查英国理发师和理发师皮肤癌教育的样本,客户筛选实践和对筛选的影响,并比较理发师和理发师的筛选实践。方法:采用分层随机抽样的方法,对英国某城市的美发师和理发师进行调查。参与者被邀请完成一项调查。结果:37名参与者完成了调查。5%的人报告说他们接受过皮肤癌意识培训,24%的人对顾客进行筛查。35%的人曾建议客户注意可疑的痣或皮肤病变;在这些参与者中,39%的客户被诊断出患有皮肤癌。65%的参与者表示,“没有接受过培训”是他们不愿接受筛查的原因。了解一个患过皮肤癌的人与筛查和建议顾客可疑的皮肤变化有很大的关系。大多数参与者(92%)表示他们喜欢或可能喜欢皮肤癌意识培训。结论:在这项英国城市的研究中,人们对皮肤癌症状和体征的认知似乎来自于认识曾经患过皮肤癌的人,而不是接受过正式的培训。缺乏皮肤癌教育是筛查的一个障碍,但大多数参与者都愿意接受培训。受过训练的美发师和理发师可能会为顾客提供定期的头颈部皮肤检查。
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引用次数: 0
A pan-European register-based observational study of abrocitinib and conventional systemic therapies in moderate and severe atopic dermatitis: the DREAM TO TREAT AD study protocol. 一项基于登记的泛欧观察性研究,阿布替尼和常规全身疗法治疗中度和重度特应性皮炎:DREAM TO治疗AD研究方案。
Q3 Medicine Pub Date : 2025-04-22 eCollection Date: 2025-06-01 DOI: 10.1093/skinhd/vzaf020
Elizaveta Gribaleva, Niels Steen Krogh, David Prieto-Merino, Bolaji Coker, Abaigeal Jackson, Ahmet Akkoc, Thomas Birkner, Erwin Bruninx, Con Hennessy, Kaitlyn Chan, Lara Cutlar, Byron Farrell, Godfrey Fletcher, Louise Gerbens, Anne Grete Frostrup, Dan Henrohn, Ariënna Hyseni, Alan D Irvine, Rayka Malek, Caitriona McCarthy, Ida Vittrup, Wouter Ouwerkerk, Rowena Randall, Phyllis I Spuls, Simon Francis Thomsen, Dmitri Wall, Stephan Weidinger, Thomas Werfel, Jochen Schmitt, Carsten Flohr

Background: Atopic dermatitis (AD) is a common chronic inflammatory skin condition. Currently, there is a lack of real-world evidence regarding the effectiveness of systemic therapies for moderate-to-severe AD. Abrocitinib is a novel Janus kinase 1 selective inhibitor licensed for AD in adults and adolescents requiring systemic treatment. The DREAM TO TREAT AD (D2T AD) study was set up to collect real-world data on abrocitinib and conventional systemic treatment use in moderate-to-severe AD. It aims to describe treatment patterns and effectiveness within a 3-year follow-up period in five registers: Ireland [Atopic Eczema Systemic Therapy Register (A-STAR) Ireland], Denmark (SCRATCH), Germany (TREATgermany), the Netherlands and Belgium (TREAT NL/BE), and the UK (A-STAR UK).

Methods: The study protocol and methodology were developed collaboratively by academics of the participating registers with the study funder. The study follow-up timepoints and outcomes are based on an international Delphi exercise previously run by the TREAT Registry Taskforce. All five registers collect data in several domains, including patients' characteristics and treatment outcomes in patients receiving systemic treatment. Assignment to treatment was decided by the treating clinician. Data collected by the registers will be transformed into harmonized datasets and then to analytical datasets (ADS) to address research questions. Study objectives include describing patient baseline characteristics, in addition to clinician- (Eczema Area and Severity Index) and patient-reported outcomes [Patient-Reported Eczema Measure (POEM), Children's/Dermatology Life Quality Index (C/DLQI), Peak Pruritus Numeric Rate Scale (PP-NRS)] at baseline and follow-up, as well as treatment patterns while on abrocitinib and conventional systemic treatments. The ADS will be analysed using the novel DataSHIELD solution that enables centralized statistical analysis on decentralized data (i.e. without data leaving the register of origin). The DataSHIELD solution includes central analytic hubs (CAHs) and local data nodes (LDNs). CAH can remotely interrogate LDNs via an internet connection using analytical commands. Each LDN produces local statistical results that are sent back to the CAH, which can then combine the results from all LNDs without seeing any patient-level data.

Discussion: D2T AD undertakes a novel federated data analysis approach across five registers in observational dermatology research and will provide crucial information on AD treatment outcomes for clinical decision-making, in addition to proving the feasibility of this type of scientific collaboration.

Protocol registration: EMA RWD Catalogue (EU PAS no.: 108468; study ID: 199009; https://catalogues.ema.europa.eu/node/3894/administrative-details).

背景:特应性皮炎(AD)是一种常见的慢性炎症性皮肤病。目前,缺乏关于中重度AD全身治疗有效性的真实证据。Abrocitinib是一种新的Janus激酶1选择性抑制剂,被批准用于成人和青少年需要全身治疗的AD。DREAM TO treatment AD (D2T AD)研究旨在收集阿布替尼和常规全身治疗在中重度AD中的实际数据。该研究旨在描述5个注册中心3年随访期内的治疗模式和有效性:爱尔兰[特应性湿疹全身治疗注册中心(a - star) Ireland]、丹麦(SCRATCH)、德国(TREATgermany)、荷兰和比利时(TREAT NL/BE)以及英国(a - star UK)。方法:研究方案和方法由参与登记的学者与研究资助者共同制定。研究的随访时间点和结果是基于TREAT注册工作组先前运行的国际德尔菲演习。所有五个登记处收集了几个领域的数据,包括接受全身治疗的患者的特征和治疗结果。治疗的分配由治疗的临床医生决定。登记册收集的数据将转换为统一数据集,然后转换为分析数据集(ADS)以解决研究问题。研究目标包括描述患者基线特征,除了临床医生-(湿疹面积和严重程度指数)和患者报告的结果[患者报告的湿疹测量(POEM),儿童/皮肤病生活质量指数(C/DLQI),峰值瘙痒率量表(PP-NRS)]在基线和随访时,以及阿布替尼和常规全身治疗时的治疗模式。ADS将使用新颖的DataSHIELD解决方案进行分析,该解决方案可以对分散的数据进行集中统计分析(即,数据不离开原产地登记册)。DataSHIELD解决方案包括中央分析集线器(cah)和本地数据节点(ldn)。CAH可以使用分析命令通过互联网连接远程查询ldn。每个LDN生成本地统计结果,这些结果被发送回CAH, CAH然后可以将来自所有LDN的结果组合在一起,而无需查看任何患者级别的数据。讨论:D2T AD在观察性皮肤病学研究中采用了一种新颖的联合数据分析方法,除了证明这种类型的科学合作的可行性外,还将为临床决策提供有关AD治疗结果的关键信息。协议注册:EMA RWD目录(EU PAS号)。: 108468;研究编号:199009;https://catalogues.ema.europa.eu/node/3894/administrative-details)。
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引用次数: 0
Trisomy 18 with widespread calcinosis cutis. 18三体伴广泛的皮肤钙质沉着症。
Q3 Medicine Pub Date : 2025-04-22 eCollection Date: 2025-06-01 DOI: 10.1093/skinhd/vzaf023
Airin Sato, Yu Matsui, Teruhiko Makino, Tadamichi Shimizu

Trisomy 18 is the second most common autosomal trisomy, associated with high mortality, with only 5-10% of affected individuals surviving beyond the first year of life. Consequently, comorbidities in long-term survivors are rarely reported. We describe the case of a 6-year-old East Asian girl with trisomy 18 who presented with calcinosis cutis. The patient initially developed a firm, non-tender subcutaneous nodule on the left wrist, which later spread to the forearm and upper arm. Physical examination and imaging revealed extensive subcutaneous nodules in other extremities. High-frequency ultrasonography showed hypoechogenic masses with posterior acoustic shadows, while skin biopsy revealed fat necrosis and calcium deposition. No significant abnormalities were detected in the levels of calcium, phosphorus, parathyroid hormone or vitamin D. Based on laboratory findings and the patient's medical history, metabolic, nutritional, inflammatory and iatrogenic causes of calcinosis cutis were unlikely. Consequently, the condition was classified as either dystrophic or idiopathic calcinosis cutis. The patient was managed as an outpatient without specific treatment. This report discusses the mechanisms of calcinosis cutis and the reasons for the limited research on its association with trisomy 18. To our knowledge, this is the first report describing calcinosis cutis as a concomitant condition in a paediatric patient with trisomy 18, and it is anticipated that increased awareness of this disease may lead to a rise in reported cases in the future.

18三体是第二常见的常染色体三体,与高死亡率相关,只有5-10%的受影响个体存活过一岁。因此,长期幸存者的合并症很少被报道。我们描述的情况下,6岁的东亚女孩与三体18谁提出了皮肤钙质沉着症。患者最初在左手腕出现一个坚硬、无压痛的皮下结节,后来扩散到前臂和上臂。体格检查和影像学显示其他四肢有广泛的皮下结节。高频超声显示低回声肿块伴后侧声影,皮肤活检显示脂肪坏死及钙沉积。钙、磷、甲状旁腺激素或维生素d水平未检测到明显异常。根据实验室检查结果和患者的病史,不太可能是皮肤钙质沉着症的代谢、营养、炎症和医源性原因。因此,这种情况被归类为营养不良或特发性皮肤钙质沉着症。该患者作为门诊病人进行治疗,没有特殊治疗。本文讨论皮肤钙质沉着症的发病机制及其与18三体相关性研究有限的原因。据我们所知,这是第一个将皮肤钙质沉着症描述为小儿18三体患者的伴随疾病的报告,预计对这种疾病的认识的提高可能会导致未来报告病例的增加。
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引用次数: 0
Dyschromatosis universalis hereditaria with SASH1 mutation improved with picosecond laser treatment. 皮秒激光治疗可改善SASH1突变的遗传性普遍色素异常症。
Q3 Medicine Pub Date : 2025-04-22 eCollection Date: 2025-06-01 DOI: 10.1093/skinhd/vzaf024
Liyan Yuan, Ying Luo, Chao Yang, Mao-Qiang Man, Bin Yang, Zhenfeng Liu

Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant pigmentary skin disorder characterized by hypo- and hyperpigmented macules over the body. Although DUH is associated with mutations in ABCB6 and SASH1, other factors also contribute to the pathogenesis of DUH, as the lesions typically appear on the exposed areas of the skin and do not develop in all individuals with SASH1 mutations. Most reported cases of SASH1 mutations are in Chinese or Japanese patients who do not require treatment. Herein, we report a rare case of an 11-year-old boy presenting with an 8-year history of widespread brown spots. The lesions, which began on his face and spread to the trunk, limbs and oral mucosa, developed without photosensitivity. Whole-exome sequencing helped identify a heterozygous SASH1 mutation (c.1529G > A; exon13, NM_015278.5). Initial treatment with intense pulsed light did not result in any improvement; however, subsequent picosecond laser treatment led to significant improvement. Hence, this case highlights the phenotypic variability of DUH associated with SASH1 mutations and the potential role played by additional genetic or environmental factors in disease expression. Furthermore, picosecond laser treatment may be effective against hyperpigmented lesions, although further studies are required to assess its long-term efficacy and safety.

普遍遗传性色素沉着症(DUH)是一种罕见的常染色体显性色素沉着皮肤病,其特征是全身色素沉着和色素沉着。虽然DUH与ABCB6和SASH1突变有关,但其他因素也有助于DUH的发病机制,因为病变通常出现在皮肤暴露区域,并不是所有SASH1突变个体都发生病变。大多数报道的SASH1突变病例发生在不需要治疗的中国或日本患者中。在此,我们报告一例罕见的11岁男孩,表现为8年广泛的棕色斑点病史。病变从面部开始,扩散到躯干、四肢和口腔黏膜,无光敏性发展。全外显子组测序帮助鉴定了一个杂合的SASH1突变(c.1529G > a;exon13 NM_015278.5)。最初用强脉冲光治疗没有任何改善;然而,随后皮秒激光治疗导致显著改善。因此,该病例强调了与SASH1突变相关的DUH的表型变异性,以及其他遗传或环境因素在疾病表达中发挥的潜在作用。此外,皮秒激光治疗可能对色素沉着病变有效,尽管需要进一步的研究来评估其长期疗效和安全性。
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引用次数: 0
Investigating the potential of oncolytic viruses in the treatment of melanoma: where do we go from here? 研究溶瘤病毒在黑色素瘤治疗中的潜力:我们将何去何从?
Q3 Medicine Pub Date : 2025-04-22 eCollection Date: 2025-04-01 DOI: 10.1093/skinhd/vzaf022
Michaela Houghton, Annwyne Houldsworth

Oncolytic viruses (OVs) can destroy cancer cells without harming healthy cells. This review explores the mechanisms by which OVs operate and the methods of delivering them. Melanoma is a common type of skin cancer with increasing prevalence in the UK; therefore, finding effective strategies to combat the disease is paramount. To understand the potential of OVs in treating melanoma, different types of viruses will be reviewed. Talimogene laherparepvec (T-VEC) is the only OV to be approved for treating melanoma; this review aims to understand the efficacy of T-VEC as a monotherapy and combined with other treatments. There is substantial evidence to support the use of OVs in treating melanoma by synthesizing the current perspectives of their use where they proved to be effective in clinical trials, as monotherapies and in combination with other treatments, as well as exciting innovative ventures using novel virus species. Gaps are also highlighted in the research, such as determining the influence that cancer gene mutational status has on how the tumour cells react to treatment, a concept that should also be considered in future research.

溶瘤病毒(OVs)可以在不伤害健康细胞的情况下摧毁癌细胞。这篇综述探讨了OVs运作的机制和提供它们的方法。黑色素瘤是一种常见的皮肤癌类型,在英国发病率越来越高;因此,找到对抗这种疾病的有效策略是至关重要的。为了了解OVs治疗黑色素瘤的潜力,我们将对不同类型的病毒进行综述。Talimogene laherparepvec (T-VEC)是唯一被批准用于治疗黑色素瘤的OV;本综述旨在了解T-VEC作为单一疗法和与其他疗法联合使用的疗效。有大量证据支持使用OVs治疗黑色素瘤,综合目前的使用观点,在临床试验中证明OVs有效,作为单一疗法和与其他疗法联合使用,以及使用新病毒物种的令人兴奋的创新企业。研究中还强调了一些空白,例如确定癌症基因突变状态对肿瘤细胞对治疗的反应的影响,这一概念也应该在未来的研究中加以考虑。
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引用次数: 0
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Skin health and disease
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