JAMA dermatology最新文献

{"title":"Evolution of Subacute Cutaneous Lupus Erythematosus.","authors":"Jeffrey P Callen, Courtney R Schadt","doi":"10.1001/jamadermatol.2025.1781","DOIUrl":"10.1001/jamadermatol.2025.1781","url":null,"abstract":"","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":" ","pages":"872-873"},"PeriodicalIF":11.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484414","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":"Use of the Ichthyosis Scoring System for Equitable Care in Individuals With Skin of Color.","authors":"Maria Teresa García-Romero, Mya L Roberson","doi":"10.1001/jamadermatol.2025.1963","DOIUrl":"10.1001/jamadermatol.2025.1963","url":null,"abstract":"","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":" ","pages":"854"},"PeriodicalIF":11.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591284","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":"Retrieval Augmented Generation-Enabled Large Language Model for Risk Stratification of Cutaneous Squamous Cell Carcinoma.","authors":"Neil K Jairath, Vartan Pahalyants, Shayan Cheraghlou, Derek Maas, Nayoung Lee, Maressa C Criscito, Mary L Stevenson, Apoorva Mehta, Zachary Leibovit-Reiben, Alyssa Stockard, Nicole Doudican, Aaron Mangold, John A Carucci","doi":"10.1001/jamadermatol.2025.1614","DOIUrl":"10.1001/jamadermatol.2025.1614","url":null,"abstract":"<p><strong>Importance: </strong>There exists substantial heterogeneity in outcomes within T stages for patients with cutaneous squamous cell carcinoma (cSCC).</p><p><strong>Objective: </strong>To determine whether a customized generative pretrained transformer model, trained on a comprehensive dataset with more than 1 trillion parameters and equipped with relevant focused context and retrieval augmented generation (RAG), could excel in aggregating and interpreting vast quantities of data to develop a novel class-based risk stratification system that outperforms the current standards.</p><p><strong>Design, setting, and participants: </strong>To build the RAG knowledge base, a systematic review of the literature was conducted that addressed risk factors for poor outcomes in cSCC. Using the RAG-enabled generative pretrained transformer (GPT) model, we developed a novel class-based risk stratification system that assigned point values for risk factors, culminating in a GPT-based prognostication system called the artificial intelligence-derived risk score (AIRIS). The system's performance was validated on a combined prospective and retrospective cohort of 2379 primary cSCC tumors (1996-2023) with at least 36 months of follow-up, against Brigham and Women's Hospital (BWH) and American Joint Committee on Cancer Staging Manual, eighth edition (AJCC8) systems in stratifying risk for locoregional recurrence (LR), nodal metastasis (NM), distant metastasis (DM), and disease-specific death (DSD).</p><p><strong>Main outcomes and measures: </strong>Performance metrics evaluated included distinctiveness, homogeneity, and monotonicity, as defined by the AJCC8, as well as sensitivity, specificity, positive predictive value, negative predictive value, accuracy, the area under the receiver operating characteristic curve, and concordance.</p><p><strong>Results: </strong>The median age at diagnosis was 73 (IQR, 64-81) years, with 38.5% female patients and 61.5% male patients. The AIRIS prognostication system demonstrated superior sensitivity across all outcomes (LR, 49.1%; NM, 73.7%; DM, 82.5%; and DSD, 72.2%) and the highest area under the receiver operating characteristic curve values (LR, 0.69; NM, 0.81; DM, 0.85; and DSD, 0.80), indicating significantly enhanced discriminative capability compared with the BWH and AJCC8 systems. While all systems were comparably distinctive, the AIRIS prognostication system consistently demonstrated the lowest proportion of tumors exhibiting poor outcomes in low-risk categories, suggesting its improved homogeneity and monotonicity.</p><p><strong>Conclusions and relevance: </strong>The results of this diagnostic study suggest that the AIRIS system outperforms the existing BWH and AJCC8 prognostication systems, potentially providing a more effective tool for predicting poor outcomes in cSCC. This study illustrates the potential of large language models in refining prognostic tools, offering implications for treating patients with can","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":" ","pages":"796-804"},"PeriodicalIF":11.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12159850/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nonlesional Skin and Blood Interferon Scores Among Patients With a History of Cutaneous Lupus.","authors":"Svenja Henning, Lam C Tsoi, Benjamin Klein, Craig Dobry, Celine C Berthier, Amber N Young, Mitra P Maz, Amy Hurst, Rachael Bogle, Johann E Gudjonsson, J Michelle Kahlenberg","doi":"10.1001/jamadermatol.2025.1697","DOIUrl":"10.1001/jamadermatol.2025.1697","url":null,"abstract":"<p><strong>Importance: </strong>Interferons (IFNs) play a crucial role in systemic lupus erythematosus (SLE) pathophysiology and are increased in cutaneous lupus erythematosus (CLE) lesions and blood. Recently, IFN-stimulated genes (ISGs) have been shown to be expressed in nonlesional skin of patients with SLE, suggesting that the nonlesional skin functions as an immune-activated site. Whether this is the case in all patients with SLE remains to be understood.</p><p><strong>Objective: </strong>To compare nonlesional skin and peripheral blood mononuclear cell (PBMC) ISG expression in patients with lupus with and without a history of cutaneous lupus erythematosus.</p><p><strong>Design, setting, and participants: </strong>This cross-sectional study at a single-center at a tertiary referral center included patients with a history of cutaneous lupus without SLE (CLEwoSLE), patients with SLE with CLE (SLEwCLE), patients with SLE without CLE (SLEwoCLE), and healthy controls (HCs). All SLE patients met the European League Against Rheumatism (EULAR) and the American College of Rheumatology (ACR) classification criteria and cutaneous lupus was diagnosed by a dermatologist. Data analysis occurred from January 2024 to May 2025.</p><p><strong>Main outcomes and measures: </strong>ISG expression in PBMCs and nonlesional skin was assessed via calculation of IFN score.</p><p><strong>Results: </strong>Overall, 74 of 101 participants were female individuals (73%), and the median (IQR) age varied between 44 (41-50) and 64 (53-68) years between groups. IFN scores in PBMCs were higher in SLEwCLE compared with patients with SLEwoCLE. Similarly, SLEwCLE patients showed highest levels of IFN scores in nonlesional skin. IFN scores in PBMCs and nonlesional skin were strongly correlated (r = 0.83, P < .001).</p><p><strong>Conclusion and relevance: </strong>This cross-sectional study found that ISGs, as represented by IFN scores, in nonlesional skin and PBMCs were elevated in patients with lupus with a history of CLE compared with patients without CLE, suggesting that patients with lupus with and without CLE comprise 2 endotypes, with stronger IFN dysregulation occurring in patients with CLE.</p>","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":" ","pages":"822-827"},"PeriodicalIF":11.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12159849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autoimmune Skin Diseases and Survival Outcomes After Antineoplastic Treatment in Patients With Cancer.","authors":"Sheng-Yin To, Cho-Hao Lee, Yi-Hsien Chen, Li-Fan Hsu, I-Wen Chen, Hui-Wen Yang, Yuan-Liang Wen, Li-Ting Kao","doi":"10.1001/jamadermatol.2025.1949","DOIUrl":"10.1001/jamadermatol.2025.1949","url":null,"abstract":"<p><strong>Importance: </strong>Autoimmune skin diseases (ASDs) and cancer both involve immune system dysregulation, with ASDs characterized by heightened immune activity, and cancer associated with immune evasion; however, their impact on cancer prognosis remains unclear.</p><p><strong>Objective: </strong>To investigate the association of ASDs with cancer prognosis and survival outcomes after antineoplastic treatment in patients with cancer.</p><p><strong>Design, setting, and participants: </strong>This population-based cohort study used data from Taiwan's Nationwide Cancer Registry and National Health Insurance Database to evaluate survival outcomes in patients with cancer who received antineoplastic treatment (ie, chemotherapy, targeted therapy, or immunotherapy) between January 1, 2019, and June 30, 2021. Data were analyzed from July 2023 to April 2025.</p><p><strong>Exposures: </strong>ASDs, including alopecia areata, Sjögren syndrome, vitiligo, cutaneous lupus erythematosus, psoriasis, lichen planus, autoimmune bullous diseases, systemic sclerosis, morphea, hidradenitis, and dermatomyositis.</p><p><strong>Main outcome and measures: </strong>All-cause mortality and cancer-specific mortality were assessed during the follow-up period. To account for potential confounding, both inverse probability of treatment weighting (IPTW) and propensity score matching strategies were applied. Cox proportional hazards regression models were applied to estimate hazard ratios (HRs) for all-cause mortality, while the Fine-Gray hazard model was used to estimate subdistribution HRs (SHRs) for cancer-specific mortality, with noncancer-related deaths considered as competing events.</p><p><strong>Results: </strong>Of 197 895 patients included in the analysis, 26 008 were in the ASD group (mean [SD] age, 64.0 [13.3] years; 14 969 female [57.6%]) and 171 887 were in the non-ASD group (mean [SD] age, 62.8 [13.0] years; 80 525 female [46.9%]). Patients with ASDs had significantly better survival outcomes than those without ASDs, with an IPTW-adjusted HR of 0.94 (95% CI, 0.92-0.96) for all-cause mortality and an SHR of 0.94 (95% CI, 0.92-0.96) for cancer-specific mortality. These associations remained consistent in propensity score-matched analyses. Among ASD subtypes, alopecia areata and Sjögren syndrome were consistently associated with lower mortality risk.</p><p><strong>Conclusions and relevance: </strong>This population-based cohort study found that patients with ASDs had significantly better cancer survival outcomes than those without ASDs. This finding suggests that there is a potential immunological association between ASDs and cancer prognoses, highlighting the need for further investigation into the underlying mechanisms and the implications for oncologic management.</p>","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":" ","pages":"840-848"},"PeriodicalIF":11.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12224047/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypertrophic Tongue Papillae in Cowden Syndrome/PTEN Hamartoma Tumor Syndrome.","authors":"Javier de la Iglesia-Martin, Josep Riera-Monroig","doi":"10.1001/jamadermatol.2025.1474","DOIUrl":"10.1001/jamadermatol.2025.1474","url":null,"abstract":"","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":" ","pages":"870-871"},"PeriodicalIF":11.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266262","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":"Prognostication System for Squamous Cell Carcinoma Using Retrieval Augmented Generation-Enabled Large Language Model.","authors":"Emily S Ruiz, William Lotter","doi":"10.1001/jamadermatol.2025.1601","DOIUrl":"10.1001/jamadermatol.2025.1601","url":null,"abstract":"","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":" ","pages":"793-795"},"PeriodicalIF":11.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266265","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 and Therapeutic Strategies for Diffuse Cutaneous Mastocytosis.","authors":"Paula Pernea, Cecile Méni, Julien Rossignol, Hélène Aubert, Sébastien Barbarot, Nathalia Bellon, Anne-Claire Bing-Lecointe, Julie Bonigen, Anne-Claire Bursztejn, Delphine Carré, Alice Phan, Eve Puzenat, François Skowron, Pierre Vabres, Anne Welfringer-Morin, Philippe Drabent, Sylvie Fraitag, Nicolas Garcelon, Julie Agopian, Patrice Dubreuil, Stéphanie Mallet, Stéphane Barete, Michel Arock, Olivier Hermine, Christine Bodemer, Laura Polivka","doi":"10.1001/jamadermatol.2025.1488","DOIUrl":"10.1001/jamadermatol.2025.1488","url":null,"abstract":"<p><strong>Importance: </strong>Diffuse cutaneous mastocytosis (DCM) is a rare and severe subtype of pediatric mastocytosis, characterized by extensive skin involvement. Comprehensive studies on the clinical and molecular features of DCM remain limited.</p><p><strong>Objective: </strong>To describe the clinical, molecular, and treatment-related characteristics and outcomes of a cohort of pediatric patients with a clinical presentation of DCM.</p><p><strong>Design, setting, and participants: </strong>This retrospective study analyzed pediatric patients with a clinical presentation of DCM from January 1996 to October 2023 at Necker Children's Hospital in Paris, France.</p><p><strong>Main outcome and measures: </strong>Data on clinical presentation, laboratory results, and KIT sequencing from skin biopsies and bone marrow, if available, were collected and analyzed. These data were compared with previously published findings from a pediatric cohort with maculopapular cutaneous mastocytosis (MPCM).</p><p><strong>Results: </strong>The study included 33 pediatric patients, 18 (54.5%) of whom were male, with a clinical presentation of DCM, including 4 with aggressive systemic mastocytosis (ASM) and 29 with DCM. The mean (SD) age at the onset of the first clinically significant signs was 2.2 (2.2) months. A disease-revealing massive bullous eruption was noted in 9 patients (27.2%). Compared to MPCM, patients with a clinical presentation of DCM had a higher mean baseline serum tryptase level (47.5 μg/L [SD, 38.7; range, 5.0-178.0 μg/L] vs 7.4 μg/L [SD, 6.4; range, 1-45.2]; P < .001), a higher prevalence of anaphylaxis (4 [12.1%] vs 5 [2.4%]; P = .02), and a more frequent association with ASM (4 [12.1%] vs 2 [0.9%]; P = .004). KIT codon 816 variants were identified in 4 patients (19.0%), other KIT variants in 14 patients (66.7%), and wild-type KIT in 3 patients (14.3%). All 4 patients with KIT codon 816 variants had ASM. Seven patients (21.2%) received early systemic treatment (imatinib, midostaurin, or sirolimus depending on the type of KIT variants), starting at a mean (SD) age of 80.8 (135.6) months and continuing for a mean (SD) of 4.0 (2.6) years, with generally good tolerance and efficacy. Of the 15 patients without systemic treatment for more than 6 years, 13 (86.6%) exhibited spontaneous regression.</p><p><strong>Conclusion and relevance: </strong>In this cohort study, DCM presentation differs significantly from MPCM, with a higher risk of anaphylaxis and aggressive systemic forms, the latter being consistently associated with the KIT D816V variant. Tyrosine kinase inhibitors and sirolimus were generally effective and well tolerated in this pediatric population, with the choice of treatment depending on the type of KIT variants.</p>","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":" ","pages":"855-862"},"PeriodicalIF":11.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12120679/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144159267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Asymptomatic Symmetrical Telangiectasia on Lower Extremities.","authors":"Pei-Yun Ho, Yi-Tsz Lin","doi":"10.1001/jamadermatol.2025.1416","DOIUrl":"10.1001/jamadermatol.2025.1416","url":null,"abstract":"","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":" ","pages":"874-875"},"PeriodicalIF":11.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325766","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":"An Outbreak of Sporotrichosis Associated With Tying Crabs.","authors":"Fangfang Bao, Pengcheng Huai, Chenchen Chen, Shufen Wang, Yong Zhang, Zige Li, Yongxia Liu, Gongqi Yu, Wenyan Ma, Meichen Han, Wenchang Zhao, Hong Liu, Furen Zhang","doi":"10.1001/jamadermatol.2025.1884","DOIUrl":"10.1001/jamadermatol.2025.1884","url":null,"abstract":"","PeriodicalId":14734,"journal":{"name":"JAMA dermatology","volume":" ","pages":"883-885"},"PeriodicalIF":11.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12224045/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}