Lancet Rheumatology最新文献

{"title":"Spatial frequency domain imaging for assessment of skin fibrosis in systemic sclerosis: a prospective cohort study.","authors":"Hung Vo, Aarohi M Mehendale, Martin Azzam, Anahita Pilvar, Fatima El Adili, Rutvi Patel, Benjamin Chamis, Adhithi Ramasubramanian, Benjamin Kissin, Michael York, Marcin Trojanowski, S Reza Jafarzadeh, Jeff Browning, Jag Bhawan, Darren Roblyer, Andreea M Bujor","doi":"10.1016/S2665-9913(26)00229-8","DOIUrl":"https://doi.org/10.1016/S2665-9913(26)00229-8","url":null,"abstract":"<p><strong>Background: </strong>Systemic sclerosis is an autoimmune disease with no approved skin-directed therapies. The modified Rodnan skin score (mRSS) is the standard measure of skin involvement in systemic sclerosis, but it has limitations. There is an unmet need for a non-invasive skin outcome measure that is objective, biologically anchored to dermal fibrosis, and scalable for multicentre trials. We evaluated spatial frequency domain imaging (SFDI), a wide field, non-contact optical method as a systemic sclerosis skin outcome measure.</p><p><strong>Methods: </strong>This single-centre, prospective, cohort study was done at the Division of Rheumatology at the Boston Medical Center (Boston, MA, USA). Eligible patients were aged 18 years or older with systemic sclerosis fulfilling the 2013 American College of Rheumatology-European League Against Rheumatism classification criteria. Control participants were people aged 18 years or older without autoimmune disease or known skin pathology. For all participants, exclusion criteria included skin malignancy, wounds or rashes at SFDI measurement sites (dorsal hands, forearms, and fingers). Participants in the pilot phase completed one study visit with SFDI, mRSS assessment, and optional forearm biopsy. In the expanded protocol phase, participants had a baseline visit, with follow-up visits once every 3 months during the first year and once every 6 months thereafter for 3 years. At each study visit, SFDI, high-frequency ultrasound, and durometry were done in all participants, and mRSS was assessed in patients with systemic sclerosis. Optional forearm biopsy and blood collection was done at baseline in consenting participants. Main analyses assessed baseline associations of SFDI parameters (diffuse reflectance [R<sub>d</sub>] and reduced scattering coefficient [μ<sub>s</sub>']) with mRSS and correlations with histological features of skin involvement in forearm biopsies (dermal fibrosis, collagen content, myofibroblast staining, epidermal and dermal thickness, and additional histological features). Linear mixed-effects models were used for associations and Spearman models for correlations. People with lived experience of systemic sclerosis were not involved in the study design.</p><p><strong>Findings: </strong>Between Oct 17, 2019, and June 18, 2025, 54 patients with systemic sclerosis and 30 healthy control participants were enrolled across the pilot and expanded protocol phases. The final analysis included 49 participants with systemic sclerosis and 25 control participants; biopsy samples were obtained from 34 participants with systemic sclerosis and 16 control participants. 38 (78%) of 49 participants with systemic sclerosis were female, 11 (22%) were male, 34 (69%) were White, and mean age was 50 years (SD 16). 20 (80%) of 25 control participants were female, five (20%) were male, 14 (56%) were White, and mean age was 49 years (SD 14). R<sub>d</sub> and μ<sub>s</sub>' were significantly lower in ","PeriodicalId":48540,"journal":{"name":"Lancet Rheumatology","volume":" ","pages":""},"PeriodicalIF":29.5,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149185350","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":"Rare genetic conditions can be both underdiagnosed and overdiagnosed.","authors":"Leigh Jackson","doi":"10.1016/S2665-9913(26)00284-5","DOIUrl":"https://doi.org/10.1016/S2665-9913(26)00284-5","url":null,"abstract":"","PeriodicalId":48540,"journal":{"name":"Lancet Rheumatology","volume":" ","pages":""},"PeriodicalIF":29.5,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149185331","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":"Genomic ascertainment of systemic autoinflammatory diseases: a retrospective cohort study in two population-based biobanks.","authors":"Defne Ercelen, Meghan Anderson, Jung Kim, Jeremy S Haley, Adam Cook, Wesley Hill, James Dove, Ivona Aksentijevich, David J Carey, Douglas R Stewart, David B Beck","doi":"10.1016/S2665-9913(26)00217-1","DOIUrl":"https://doi.org/10.1016/S2665-9913(26)00217-1","url":null,"abstract":"<p><strong>Background: </strong>Systemic autoinflammatory diseases are rare diseases caused by innate immune dysregulation and are often linked to single-gene variants. Diagnosis remains challenging due to incomplete penetrance and variable expressivity. This study aimed to quantify the prevalence, penetrance, and clinical spectrum of systemic autoinflammatory diseases associated with pathogenic or likely pathogenic variants in 28 genes.</p><p><strong>Methods: </strong>This retrospective cohort study applied a genome-first approach to whole exome sequencing linked to electronic health records from Geisinger MyCode Community Health Initiative (USA) and the UK Biobank (UK). From a curated list of 27 dominantly inherited and one acquired disease gene, individuals with autosomal dominant pathogenic or likely pathogenic variants or somatic pathogenic or likely pathogenic variants of UBA1 were classified as cases. Variants were classified according to American College of Medical Genetics and Genomics guidelines and assigned to tier 1 or tier 2. Controls were participants without any pathogenic or likely pathogenic variant in the 28 genes. Penetrance (≥1 systemic autoinflammatory disease-associated ICD-10 code group) and clinical spectrum were assessed in tier 1 cases by comparing inflammatory ICD-10 codes and immunosuppressant use between cases and controls, with expressivity defined as the number of enriched ICD-10 code groups. Odds ratios (ORs) were calculated using Fisher's exact test with Bonferroni-Holm correction, and cohorts were analysed separately. There was no lived experience involvement in the study design or conduct.</p><p><strong>Findings: </strong>The final dataset consisted of 640 092 participants (170 503 from Geisinger MyCode and 469 589 from the UK Biobank). 280 958 (43·9%) were male and 359 134 (56·1%) were female. We identified 159 individuals carrying rare pathogenic or likely pathogenic variants in 17 genes, corresponding to a prevalence of 0·04% (63 of 170 503) in Geisinger MyCode and 0·02% (96 of 469 589) in the UK Biobank with a combined estimated prevalence of one in 4026 individuals (0·02%). Only one participant had a documented diagnosis of an autoinflammatory disorder. Geisinger MyCode cases had a disease penetrance of 79% (50 of 63) compared with a disease penetrance of 32% (31 of 96) in the UK Biobank. Overall, disease penetrance was 51%, with 81 of 159 cases exhibiting inflammatory features across multiple organ systems, especially pulmonary and cutaneous manifestations, as well as diagnoses of vasculitis (Geisinger MyCode OR 5·06 [1·01-15·54]) and rheumatic autoimmune disorders (Geisinger MyCode OR 2·29 [0·88-5·04]; UK Biobank OR 12·28 [4·12-30·68]. We also observed increased use of immunosuppressive medications in cases compared to controls (Geisinger MyCode OR 3·98 [95% CI 1·40-9·23]) consistent with clinically relevant disease.</p><p><strong>Interpretation: </strong>These findings suggest that monogenic autoinflamma","PeriodicalId":48540,"journal":{"name":"Lancet Rheumatology","volume":" ","pages":""},"PeriodicalIF":29.5,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149185373","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":"Prehabilitation in rheumatology: a missing link in psoriatic disease management.","authors":"Ennio Lubrano, Fabio Massimo Perrotta, Mauro Fatica, Flavia Sunzini, Stefan Siebert","doi":"10.1016/S2665-9913(26)00221-3","DOIUrl":"https://doi.org/10.1016/S2665-9913(26)00221-3","url":null,"abstract":"<p><p>Rheumatic and musculoskeletal diseases are chronic, heterogeneous conditions shaped by complex interactions between immune, metabolic, behavioural, and environmental factors. Despite substantial advances in pharmacological therapies, many patients continue to have pain, fatigue, functional impairment, and accumulating comorbidity burden, highlighting the need for complementary strategies beyond inflammation control. Prehabilitation is a proactive and multimodal approach aimed at optimising physical, metabolic, and psychological health before periods of increased vulnerability. Although originally developed in surgical and oncological settings, its principles might be relevant across the continuum of chronic inflammatory diseases. Psoriatic disease represents a particularly attractive model given its identifiable preclinical phases, heterogeneous course, and strong influence of modifiable lifestyle factors. In this Personal View, we discuss the rationale for translating prehabilitation to psoriatic disease, explore potential windows of opportunity and intervention domains across the disease continuum, and consider the conceptual challenges, current evidence gaps, and uncertainties surrounding its application in this clinical setting.</p>","PeriodicalId":48540,"journal":{"name":"Lancet Rheumatology","volume":" ","pages":""},"PeriodicalIF":29.5,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148907208","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":"Reversible digital clubbing and onycholysis with severe acro-osteolysis.","authors":"Maximilian Schwarz, Jonathan London","doi":"10.1016/S2665-9913(26)00222-5","DOIUrl":"https://doi.org/10.1016/S2665-9913(26)00222-5","url":null,"abstract":"","PeriodicalId":48540,"journal":{"name":"Lancet Rheumatology","volume":" ","pages":""},"PeriodicalIF":29.5,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148820039","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":"Mutilating generalised discoid lupus erythematosus over four decades.","authors":"Kune Lu, Lin Deng, Lesi Xie, Xinyi Wang, Yingzhi Luo, Lulu Pan, Zhangyu Bu","doi":"10.1016/S2665-9913(26)00255-9","DOIUrl":"https://doi.org/10.1016/S2665-9913(26)00255-9","url":null,"abstract":"","PeriodicalId":48540,"journal":{"name":"Lancet Rheumatology","volume":" ","pages":""},"PeriodicalIF":29.5,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148799806","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":"When one joint matters: the monoarticular blind spot in inflammatory arthritis","authors":"Francesco Ursini MD,&nbsp;Jacopo Ciaffi MD,&nbsp;Salvatore D’Angelo MD,&nbsp;Prof Roberto Caporali MD,&nbsp;Prof Tom WJ Huizinga MD","doi":"10.1016/S2665-9913(26)00080-9","DOIUrl":"10.1016/S2665-9913(26)00080-9","url":null,"abstract":"<div><div>Monoarthritis is a familiar—yet systematically under-theorised—scenario in rheumatoid arthritis and psoriatic arthritis, occurring both at onset and as residual synovitis that persists despite apparently successful treat-to-target care. Contemporary composite indexes, trial eligibility criteria, and guideline algorithms were built for polyarticular disease; as a result, these tools can numerically dilute the functional and prognostic weight of a single inflamed knee, ankle, or dominant wrist. This situation results in an uncomfortable paradox: overall disease activity can meet the predefined therapeutic target (eg, remission or low disease activity), while the patient remains substantially symptomatic or functionally limited because of persistent inflammation in a single joint. When the burden is focal, the usual reflex of escalating systemic immunosuppression deserves scrutiny, because the hazards of escalation do not shrink with joint count, whereas the incremental benefit often does. In this Viewpoint, we argue that monoarthritis is not merely a measurement nuisance but a decision problem. We examine why monoarthritis remains poorly captured by current measurement systems, trial paradigms, and treatment frameworks. We also highlight key research priorities to make monoarthritis visible again—both epidemiologically and methodologically—including index-joint phenotyping, joint-centred outcomes, and comparative evaluation of local versus systemic treatment strategies.</div></div>","PeriodicalId":48540,"journal":{"name":"Lancet Rheumatology","volume":"8 7","pages":"Pages e576-e584"},"PeriodicalIF":29.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147876140","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":"Leflunomide–hydroxychloroquine: a replicable hope in Sjögren's disease?","authors":"Gaetane Nocturne","doi":"10.1016/S2665-9913(26)00143-8","DOIUrl":"10.1016/S2665-9913(26)00143-8","url":null,"abstract":"","PeriodicalId":48540,"journal":{"name":"Lancet Rheumatology","volume":"8 7","pages":"Pages e495-e497"},"PeriodicalIF":29.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147983913","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":"Enpatoran: promising mechanism, pharmacodynamic challenge","authors":"Cristina Arriens","doi":"10.1016/S2665-9913(26)00037-8","DOIUrl":"10.1016/S2665-9913(26)00037-8","url":null,"abstract":"","PeriodicalId":48540,"journal":{"name":"Lancet Rheumatology","volume":"8 7","pages":"Pages e494-e495"},"PeriodicalIF":29.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147870136","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":"Microscopic polyangiitis presenting with retinal frosted branch angiitis","authors":"Prof Tajamul H Mir DM,&nbsp;Reem Javeed MD,&nbsp;Bushra Jabeen PGD,&nbsp;Alok Sharma MD,&nbsp;Prof Afroz Khan MD,&nbsp;Prof Junaid S Wani MD,&nbsp;Murtaza R Pala MD,&nbsp;Rabia N Ahmed MD,&nbsp;Ahtesham Ahmed MD,&nbsp;Sibgatullah Chesti MBBS,&nbsp;M Omar Parvaiz MBBS","doi":"10.1016/S2665-9913(25)00159-6","DOIUrl":"10.1016/S2665-9913(25)00159-6","url":null,"abstract":"","PeriodicalId":48540,"journal":{"name":"Lancet Rheumatology","volume":"8 7","pages":"Pages e585-e586"},"PeriodicalIF":29.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530484","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}