British Journal of Dermatology最新文献

{"title":"Comprehensive single-cell chromatin and transcriptomic profiling of peripheral immune cells in nonsegmental vitiligo.","authors":"Jesus Gay-Mimbrera, Daniel Lozano-Ojalvo, Pedro J Gómez-Arias, Irene Rivera-Ruiz, Macarena Aguilar-Luque, Carmen Mochón-Jiménez, Eloísa Andújar Pulido, Mónica Pérez-Alegre, Emma Guttman-Yassky, Juan Ruano","doi":"10.1093/bjd/ljaf041","DOIUrl":"10.1093/bjd/ljaf041","url":null,"abstract":"<p><strong>Background: </strong>Nonsegmental vitiligo (NSV) is an autoimmune condition characterized by melanocyte loss. While skin-specific mechanisms have been well studied, systemic immune dysregulation contributing to NSV pathogenesis remains unclear.</p><p><strong>Objectives: </strong>To use a multi-omic single-cell approach to investigate circulating immune cells in NSV, integrating transcriptional and chromatin accessibility data.</p><p><strong>Methods: </strong>An integrative single-cell RNA sequencing (scRNAseq)/single-cell assay for transposase-accessible chromatin sequencing (scATACseq) analysis was conducted on peripheral blood mononuclear cells (PBMCs) from people with NSV (n = 11) and healthy control participants (n = 5), identifying transcriptional markers, cell-cell interactions, chromatin accessibility and transcription factor (TF) dynamics. Key findings were validated in an expanded cohort (patients with NSV, n = 16; healthy controls, n = 9) using spectral flow cytometry, with additional stratification by sex, age, disease activity, severity and duration.</p><p><strong>Results: </strong>Analysis of 59 192 PBMCs identified 8204 gene expression markers and 13 925 ATAC peaks across 25 immune cell subtypes. A broadly activated immune response was observed, characterized by cytotoxicity, antigen presentation, cell exhaustion and stress, predominantly in monocytes, natural killer cells, CD8+ T cells and dendritic cells. Multi-omic integration revealed T helper (Th)1/Th17 polarization and dysfunctional regulatory T cell [Treg/memory Treg (mTreg)] responses. Chromatin accessibility highlighted enriched TF binding sites for forkhead box O3 (FOXO3), Sp1, activator protein 1 (AP-1), signal transducer and activator of transcription (STAT)1/STAT3, interferon regulatory factor (IRF)1 and IRF4, regulating pathways linked to cytotoxicity, antigen processing, nuclear factor-κB, Toll-like receptor and Janus kinase/STAT signalling. Flow cytometry validated these findings, showing that disease activity and shorter duration were associated with heightened immune dysregulation. Robust T-cell receptor activation drove Th1/Th17 polarization and elevated interferon-γ and tumour necrosis factor-α production in CD4+ and CD8+ T cells. Cutaneous lymphocyte-associated antigen (CLA)+ skin-homing Th1/Th17-polarized CD4+ T cells, CD8+ T cells and mTregs exhibited persistent activation, marked by basal programmed cell death protein 1 (PD1)+ expression. OX40/OX40L-mediated interactions between monocytes and effector T cells amplified inflammation. Regulatory dysfunction, including reduced interleukin (IL)-4 and IL-13 production by mTregs, was prominent in moderate-to-severe and active disease.</p><p><strong>Conclusions: </strong>This is the first multi-omic single-cell study of PBMCs from people with NSV, revealing systemic immune dysregulation driven by cytotoxicity, antigen presentation, exhaustion and regulatory failure. Disease severity, activity and evolutio","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"115-124"},"PeriodicalIF":11.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143064082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Linear hypermelanosis in narrow bands: a mosaic pattern manifestation of dyskeratosis congenita?","authors":"Ran Mo, Mingming Xu, Zhiming Chen, Ruiyu Xiang, Xiaofang Li, Hongyang Li, Guoyi Zhang, Jianfang Sun, Wei Zhang, Yong Yang","doi":"10.1093/bjd/ljaf091","DOIUrl":"10.1093/bjd/ljaf091","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"178-180"},"PeriodicalIF":11.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143603943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rapid improvements in Kaposi sarcoma with metformin: a report of two cases.","authors":"Ting Su, Yongkai Yu, Zhonglan Su, Yan Lu","doi":"10.1093/bjd/ljaf090","DOIUrl":"10.1093/bjd/ljaf090","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"175-176"},"PeriodicalIF":11.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143603944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"KLF4 variants in palmoplantar, nonsyndromic and syndromic epidermal differentiation disorder phenotypes.","authors":"Robert W Gruber, Matthias Schmuth","doi":"10.1093/bjd/ljaf117","DOIUrl":"10.1093/bjd/ljaf117","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"8"},"PeriodicalIF":11.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143728673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adding arginine to the list of single amino acids important in epidermal barrier function.","authors":"Ryan F L O'Shaughnessy","doi":"10.1093/bjd/ljaf110","DOIUrl":"10.1093/bjd/ljaf110","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"7-8"},"PeriodicalIF":11.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characteristics of patients seeking skin-related minor ailment pharmacy services in Ontario, Canada: a population-based cross-sectional study.","authors":"Rita J Iskandar, Mina Tadrous, Paul Nguyen, Lisa Dolovich, Michael Green, Eliot Frymire, Aaron M Drucker","doi":"10.1093/bjd/ljaf092","DOIUrl":"10.1093/bjd/ljaf092","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"173-175"},"PeriodicalIF":11.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence, stage and outcome of malignant melanoma, keratinocyte and other cancers in individuals with vitiligo or alopecia: intraindividual or familial risks?","authors":"Benedicte Delcoigne, Josefin Lysell, Johan Askling","doi":"10.1093/bjd/ljaf074","DOIUrl":"10.1093/bjd/ljaf074","url":null,"abstract":"<p><strong>Background: </strong>Vitiligo and autoimmune alopecia (AA) are caused by T cell-mediated autoimmunity in genetically predisposed individuals. Studies in vitiligo have reported reduced risks for malignant melanoma (MM), as well as for keratinocyte cancer (KC). Similarly, in AA, reduced risks for KC and MM have been reported. The driving mechanisms (genetic predisposition, immunological or other effects of the disease phenotypes, or environmental factors) remain unclear. Whether or not the immune-related genetic predisposition in vitiligo and AA offers 'inherent' protection against other types of cancer remains unresolved.</p><p><strong>Objectives: </strong>To investigate the incidence and outcome of MM, squamous cell carcinoma (SCC) and noncutaneous cancers in vitiligo and AA, compared with the general population, and to investigate the corresponding risks in their respective siblings.</p><p><strong>Methods: </strong>We performed a population-based matched cohort study using data from linkage of Swedish registers. We used Cox proportional hazards regression to calculate hazard ratios (HRs) contrasting patients with vitiligo or AA with the general population, as well as contrasting patients' siblings with siblings of individuals from the general population.</p><p><strong>Results: </strong>Between 2006 and 2021, we included 15 030 patients with vitiligo and 18 541 with AA, along with, respectively, 17 853 and 21 821 of their siblings. Based on 17 MM events [crude incidence rate per 100 000 person-years (IR) = 16] and 23 SCC events (IR = 22) in vitiligo, along with 20 MM events (IR = 15) and 24 SCC events (IR = 18) in AA, the hazard ratio (HR) for MM was 0.53 [95% confidence interval (CI) 0.32-0.86] in vitiligo and 0.53 (95% CI 0.34-0.83) in AA. Regarding SCC, the HR was 0.81 (95% CI 0.53-1.24) in vitiligo and 0.65 (95% CI 0.43-0.98) in AA. Stage at diagnosis of MM did not differ substantially between patients and the general population. Among siblings, HRs for MM and SCC were not statistically significantly altered (0.82 ≤ HR ≤ 1.10; P > 0.05). In patients and their siblings, HRs for noncutaneous solid or haematological cancers were not reduced.</p><p><strong>Conclusions: </strong>In vitiligo and in AA the decreased risk of cutaneous cancers extends beyond the cell type targeted by the autoimmune reaction. The general tendency towards somewhat reduced skin cancer risks among patients' siblings suggests a role for factors other than the disease phenotypes per se. Neither the vitiligo and AA phenotypes nor their immune-related genetic predispositions seem to offer any 'inherent' protection against noncutaneous malignancies.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"66-73"},"PeriodicalIF":11.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143499367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PIVKA-II as a biomarker in pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency: implications for vitamin K therapy.","authors":"Suzuka Miyamoto, Satoru Shinkuma, Koji Yada, Kengo Hamada, Kohei Ogawa, Keiji Nogami, Hideo Asada","doi":"10.1093/bjd/ljaf078","DOIUrl":"10.1093/bjd/ljaf078","url":null,"abstract":"","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"171-173"},"PeriodicalIF":11.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sodium-glucose cotransporter 2 inhibitors and inverse risk of new-onset atopic dermatitis in a cohort with diabetes: a nationwide active-comparator study.","authors":"Yuan-Liang Wen, Wan-Ting Hsu, Yi-Hsien Chen, Hui-Han Kao, Chun-Cheng Liao, Sheng-Yin To, Hui-Wen Yang, Li-Ting Kao","doi":"10.1093/bjd/ljaf086","DOIUrl":"10.1093/bjd/ljaf086","url":null,"abstract":"<p><strong>Background: </strong>Sodium-glucose cotransporter-2 inhibitors (SGLT2i), a novel class of antidiabetic medication, have emerged as a key treatment option in diabetes management. Notably, SGLT2i promote glucose and sodium excretion through urine, a mechanism that may be implicated in the potential association between SGLT2i use and risk of atopic dermatitis (AD).</p><p><strong>Objectives: </strong>To investigate the relationship between SGLT2i use and new-onset AD in people with diabetes.</p><p><strong>Methods: </strong>This nationwide active-comparator cohort study used data from the Taiwan National Health Insurance database to investigate the association between SGLT2i use and AD risk. The study included adults with type 2 diabetes mellitus who initiated SGLT2i or DPP4i between May 2016 and December 2018, with no prescriptions for other SGLT2i or DPP4i in the 12 months prior to cohort entry. A total of 148 354 SGLT2i users were identified as the study group, while 322 703 DPP4i users were designated as the active comparator group. The primary outcome was the incidence of AD. To minimize potential confounding, inverse probability of treatment weighting (IPTW) was applied to balance baseline characteristics, medical history and ever having used medication between the two groups. Additionally, sensitivity analyses, subgroup analyses and sex-specific assessments were conducted to further validate the findings. Cox proportional hazards regression models were used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for the risk of developing AD.</p><p><strong>Results: </strong>SGLT2i users had a lower incidence of AD (9.742 vs. 12.070 per 1000 PY) than DPP4i users. SGLT2i users had a significantly lower risk of AD compared with DPP4i users (HR 0.847) after IPTW adjustment. Different types of SGLT2i also showed a consistent protective effect for AD. Notably, the highest SGLT2i dosage was associated with the lowest risk of AD (IPTW-adjusted HR 0.647), consistent across sensitivity analyses. Additionally, men who use SGLT2i exhibited a much lower risk of AD (IPTW-adjusted HR 0.750) than women who use SGLT2i.</p><p><strong>Conclusions: </strong>SGLT2i show a significant protective effect against AD in patients with diabetes compared with DPP4i. This robust finding, consistent across weighting and sensitivity analyses, supports SGLT2i use, with a strong protective effect also found in the dose-response analysis.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"74-84"},"PeriodicalIF":11.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of congenital ichthyoses: guidelines of care: Part one: 2024 update.","authors":"Juliette Mazereeuw-Hautier, Amy S Paller, Isabelle Dreyfus, Eli Sprecher, Edel O'Toole, Christine Bodemer, Masashi Akiyama, Andrea Diociaiuti, Maya El Hachem, Judith Fischer, Rogelio Gonzalez-Sarmiento, Carlos Gutiérrez-Cerrajero, Hagen Ott, Cristina Has, Nathalie Jonca, Céline Granier Tournier, Sarah Milesi, Hélène Texier, Ana Martinez, Heiko Traupe, Carmen Maria Salavastru, Matthias Schmuth, Kathrin Giehl, Mandy Aldwin, Ruth Anton Morales, Saturnino Santos, Marie-Anne Morren, Anne Audouze, Raman Malhotra, Karin Veldman, Joanna Narbutt, Kira Süßmuth, Angela Hernandez-Martin, Antoni Gostynski","doi":"10.1093/bjd/ljaf076","DOIUrl":"10.1093/bjd/ljaf076","url":null,"abstract":"<p><p>In 2019, a group of experts published the first European guidelines for the management of congenital ichthyoses after a multidisciplinary expert meeting held in 2016. An update of these guidelines and literature search was planned every 5 years, given the clinical, molecular and therapeutic advances, including the use of biologic therapies. We present here updated guidelines that have been developed by a reorganized multidisciplinary group of international experts. The evidence is based on a systematic review of recent literature, discussions and consensus reached at an expert conference held in June 2023. The guidelines provide summarized evidence and expert-based recommendations that aim to guide clinicians in the management of these rare and often complex diseases. These guidelines consist of two sections. This Part one covers topical and systemic therapies (including oral retinoids, biologics and Janus kinase inhibitors), future therapeutic approaches, psychosocial management, telemedicine, communicating the diagnosis and genetic counselling, prenatal diagnosis and preimplantation genetic testing.</p>","PeriodicalId":9238,"journal":{"name":"British Journal of Dermatology","volume":" ","pages":"16-27"},"PeriodicalIF":11.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}