JID innovations : skin science from molecules to population health最新文献_第3页

Integration of Longitudinal Clinical, Immunologic, and Environmental Data for Enhanced Disease Monitoring and Management in Pemphigus Vulgaris: A Case Study 整合纵向临床，免疫学和环境数据加强疾病监测和管理在寻常型天疱疮：个案研究

JID innovations : skin science from molecules to population health Pub Date : 2025-02-19 DOI: 10.1016/j.xjidi.2025.100358

Justin Baroukhian , Kristina Seiffert-Sinha , Animesh A. Sinha

{"title":"Integration of Longitudinal Clinical, Immunologic, and Environmental Data for Enhanced Disease Monitoring and Management in Pemphigus Vulgaris: A Case Study","authors":"Justin Baroukhian , Kristina Seiffert-Sinha , Animesh A. Sinha","doi":"10.1016/j.xjidi.2025.100358","DOIUrl":"10.1016/j.xjidi.2025.100358","url":null,"abstract":"<div><div>We present a case study of a patient with pemphigus vulgaris using an integrative, longitudinal approach to resolve the identities and potential contributions of a network of environmental exposures of possible clinical relevance in a genetically predisposed individual. Our comprehensive methodology tracked exposomal factors, disease evolution, and biological variables across the patient's lifespan. Our patient reported multiple predisease onset exposures historically associated with pemphigus vulgaris, including multiple psychosocial and physical/chemical stressors. After disease onset, despite standard pharmacologic treatment, disease activity fluctuated widely. Notably, within 14 months after substantial dietary changes and body mass index reduction, the patient achieved long-lasting complete clinical remission off therapy. Our results reinforce the significance of the gene–environment interplay in pemphigus vulgaris, emphasizing the role of diet in autoimmune regulation. This study serves as proof of concept regarding the power of detailed longitudinal mapping of disease expression and contemporaneous monitoring of the \"exposome\" and \"behaviorome\" to reveal previously unrecognized disease-modifying elements and suggest targeted and personalized lifestyle modifications to augment established treatments. Our study design and strategy offer a template for a hyperpersonalized approach to medicine through comprehensive lifespan data collection and integrative analyses to yield enhanced insights into disease development, with the goal of uncovering actionable interventions in future clinical care settings in the management of autoimmune disorders.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 3","pages":"Article 100358"},"PeriodicalIF":0.0,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Volume-Regulated Anion Channel LRRC8 is Involved in the Initiation of Epidermal Differentiation and is Deregulated in Psoriasis 体积调节阴离子通道LRRC8参与表皮分化的启动，并在银屑病中失调

JID innovations : skin science from molecules to population health Pub Date : 2025-02-17 DOI: 10.1016/j.xjidi.2025.100357

Magdalena Jahn , Victoria Lang , Oliver Rauh , Torsten Fauth , Claudia Buerger

{"title":"The Volume-Regulated Anion Channel LRRC8 is Involved in the Initiation of Epidermal Differentiation and is Deregulated in Psoriasis","authors":"Magdalena Jahn , Victoria Lang , Oliver Rauh , Torsten Fauth , Claudia Buerger","doi":"10.1016/j.xjidi.2025.100357","DOIUrl":"10.1016/j.xjidi.2025.100357","url":null,"abstract":"<div><div>Recent studies have shown that LRRC8A, the essential subunit of the volume-regulated anion channel LRRC8, which is responsible for mediating cell volume regulation during hypotonic stress, is predominantly localized in the basal layer of the epidermis. This prompted us to investigate whether LRRC8A plays a role in maintaining epidermal homeostasis by regulating key processes initiated in this layer, such as cell proliferation and/or differentiation.</div><div>LRRC8A was found to be strongly upregulated in transiently amplifying cells at the onset of differentiation. While <em>LRRC8A</em> mRNA remains high when keratinocytes mature further, the LRRC8A protein is drastically downregulated. Interference with <em>LRRC8A</em> expression at this step inhibits the transition of keratinocyte stem cells into transiently amplifying cells and impairs terminal differentiation. As psoriasis is a common chronic inflammatory skin disease characterized by disturbed epidermal differentiation and aberrant function of transiently amplifying cells, we investigated the involvement of LRRC8A in this disease. Indeed, LRRC8A was strongly decreased in lesional psoriatic skin, which could also be mimicked in vitro using Th1/Th17 cytokine mixes. Thus, our data suggest that LRRC8 could serve as a therapeutic target for the topical treatment strategies of psoriatic lesions by restoring the capacity of keratinocytes to initiate differentiation.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 3","pages":"Article 100357"},"PeriodicalIF":0.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143679257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IGF2BP3 As a Prognostic Biomarker and Regulator of Metastasis in Merkel Cell Carcinoma IGF2BP3作为默克尔细胞癌的预后生物标志物和转移调节因子

JID innovations : skin science from molecules to population health Pub Date : 2025-02-12 DOI: 10.1016/j.xjidi.2025.100355

Yajie Yang , Jiwei Gao , Hao Shi , Harri Sihto , Sami Kilpinen , François Vilcot , Libuse Janská , Jakob Jeschonneck , Todor Cvetanovic , Anders Höög , Jan Siarov , John Paoli , C. Christofer Juhlin , Lisa Villabona , Catharina Larsson , Weng-Onn Lui

{"title":"IGF2BP3 As a Prognostic Biomarker and Regulator of Metastasis in Merkel Cell Carcinoma","authors":"Yajie Yang , Jiwei Gao , Hao Shi , Harri Sihto , Sami Kilpinen , François Vilcot , Libuse Janská , Jakob Jeschonneck , Todor Cvetanovic , Anders Höög , Jan Siarov , John Paoli , C. Christofer Juhlin , Lisa Villabona , Catharina Larsson , Weng-Onn Lui","doi":"10.1016/j.xjidi.2025.100355","DOIUrl":"10.1016/j.xjidi.2025.100355","url":null,"abstract":"<div><div>Merkel cell carcinoma (MCC) is an aggressive skin cancer with frequent metastasis; however, effective treatment options for advanced disease are often lacking. In this study, we investigated the clinical significance and functional impact of IGF2 mRNA-binding protein 3 (IGF2BP3) in MCC. Our results revealed elevated IGF2BP3 expression in metastases compared to that in primary tumors. High <em>IGF2BP3</em> levels in primary MCCs were associated with shorter disease-specific survival rates. In an MCC xenograft model, the lung metastases exhibited increased IGF2BP3 expression. Functional studies showed that IGF2BP3 primarily regulates MCC cell migration and invasion. We identified 281 direct RNA targets of IGF2BP3 with enriched functions linked to metastasis-related processes, and several targets overlapped with genes differentially expressed between MCC primary tumors and metastases, implying that IGF2BP3 and its targets contribute to tumor progression. Inhibition or silencing of bromodomain-containing protein 4 reduced IGF2BP3 expression, suggesting that bromodomain-containing protein 4 is a potential regulator of IGF2BP3. Our study underscores the role of IGF2BP3 in MCC metastasis and its potential as a prognostic biomarker.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 3","pages":"Article 100355"},"PeriodicalIF":0.0,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143619594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Antimicrobial Peptide Signaling in Skin Diseases 皮肤疾病中的抗菌肽信号传导

JID innovations : skin science from molecules to population health Pub Date : 2025-02-05 DOI: 10.1016/j.xjidi.2025.100354

Sharan Kumar Balaji , Bhavani Balasundarasekar , Waris Muhammad Khuwaja , Keean Michael Dolan , Xintong Dong

引用次数: 0

The Role of Fibroblasts in Dystrophic Epidermolysis Bullosa Pathogenesis and Current Treatment Approaches 成纤维细胞在营养不良大疱性表皮松解症发病机制中的作用及目前的治疗方法

JID innovations : skin science from molecules to population health Pub Date : 2025-02-04 DOI: 10.1016/j.xjidi.2025.100353

Alexander Nyström , Celine Pattaroni , Johannes S. Kern

{"title":"The Role of Fibroblasts in Dystrophic Epidermolysis Bullosa Pathogenesis and Current Treatment Approaches","authors":"Alexander Nyström , Celine Pattaroni , Johannes S. Kern","doi":"10.1016/j.xjidi.2025.100353","DOIUrl":"10.1016/j.xjidi.2025.100353","url":null,"abstract":"<div><div>Dystrophic epidermolysis bullosa (DEB) is a hereditary skin fragility disease characterized by the loss or dysfunction of collagen VII, predisposing patients to dermal–epidermal separation. This disease is highly associated with the development of progressive fibrosis of the skin and other organs and the occurrence of lethal cutaneous squamous cell carcinomas (cSCCs). These are not only caused by chronic wounding but also by collagen VII deficiency, which may directly alter cellular responses. This review focuses on the role of fibroblasts in DEB pathogenesis. In addition to keratinocytes, fibroblasts contribute to collagen VII production. Fibroblasts in injured DEB skin are activated and profibrotic and have a propensity to alter tissue homeostasis. Disease progression in DEB follows the trajectory of cancer injury through inflammation and fibrosis. Fibroblast activation and extracellular matrix remodeling that occur in advancing DEB may be directly linked to the aggressive biological behavior of DEB cSCCs. In contrast, the mechanisms underlying chronic itching and pain in DEB and the potential contribution of fibroblasts to these symptoms are only partially understood. The first therapies for DEB recently received regulatory approval, which is a major milestone toward a cure. However, to successfully treat DEB, systemic therapies to mitigate chronic inflammation and fibrosis are likely required, in addition to local collagen VII replacement.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 3","pages":"Article 100353"},"PeriodicalIF":0.0,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143445593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Unpacking the Itch Score: A Critical Examination of Routine Itch Measurement in Dermatology Practice 解开瘙痒评分：在皮肤科实践中常规瘙痒测量的关键检查

JID innovations : skin science from molecules to population health Pub Date : 2025-01-21 DOI: 10.1016/j.xjidi.2025.100351

Serene Majid , Steven R. Feldman

引用次数: 0

Hidradenitis Suppurativa Tunnels: Unveiling a Unique Disease Entity 化脓性隧道汗腺炎：揭示一种独特的疾病实体

JID innovations : skin science from molecules to population health Pub Date : 2025-01-21 DOI: 10.1016/j.xjidi.2025.100350

Nicole Vecin , Nathan C. Balukoff , Marita Yaghi , Tammy Gonzalez , Andrew P. Sawaya , Natasa Strbo , Marjana Tomic-Canic , Hadar Lev-Tov , Irena Pastar

{"title":"Hidradenitis Suppurativa Tunnels: Unveiling a Unique Disease Entity","authors":"Nicole Vecin , Nathan C. Balukoff , Marita Yaghi , Tammy Gonzalez , Andrew P. Sawaya , Natasa Strbo , Marjana Tomic-Canic , Hadar Lev-Tov , Irena Pastar","doi":"10.1016/j.xjidi.2025.100350","DOIUrl":"10.1016/j.xjidi.2025.100350","url":null,"abstract":"<div><div>Hidradenitis suppurativa tunnel structures lined with epithelium within the dermis are unique features of advanced disease stages that significantly impair patients’ QOL. The presence of hidradenitis suppurativa tunnels is associated with a decreased likelihood of achieving a clinical response, even when receiving biological therapy. The cellular and molecular mechanisms underlying tunnel formation and pathology are only partially understood, which hampers the development of more effective targeted therapies. Tunnels create a unique microenvironment that drives a vicious cycle of hidradenitis suppurativa inflammation, with tunnel keratinocytes exhibiting an activated phenotype characterized by distinct gene expression signatures. In this review, we summarize the current literature and discuss aspects of the pathophysiology of tunnels, including the role of hair follicle epidermal stem cells in tunnel formation, potential role of fibroblast-mediated epithelial–mesenchymal transition, role of dermal papilla fibroblasts, and aberrant proinflammatory repair response contributing to the observed fibrosis and scarring. Finally, tunnel structures are characterized by unique microbial dysbiosis and an overabundance of Gram-negative anaerobes that are not targeted by current therapeutics. In addition to outlining the possible mechanisms of tunnel formation, we provide perspectives on the translation of current knowledge into more effective treatment approaches for patients with hidradenitis suppurativa tunnels.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 3","pages":"Article 100350"},"PeriodicalIF":0.0,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143419548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Noncutaneous Infections in Patients with Hidradenitis Suppurativa: A Retrospective Cohort Study 化脓性汗腺炎患者的非皮肤感染：回顾性队列研究

JID innovations : skin science from molecules to population health Pub Date : 2025-01-21 DOI: 10.1016/j.xjidi.2025.100349

Bruna G.O. Wafae , Alexandra P. Charrow , Megan H. Noe

{"title":"Noncutaneous Infections in Patients with Hidradenitis Suppurativa: A Retrospective Cohort Study","authors":"Bruna G.O. Wafae , Alexandra P. Charrow , Megan H. Noe","doi":"10.1016/j.xjidi.2025.100349","DOIUrl":"10.1016/j.xjidi.2025.100349","url":null,"abstract":"<div><div>Adults with hidradenitis suppurativa (HS) have comorbidities and are exposed to treatments that may increase their risk of serious infections. Therefore, our study aims to determine the prevalence and risk factors for noncutaneous infections (NCIs) related hospitalizations in adults with HS and analyze their patterns of healthcare utilization. This retrospective cohort included patients with dermatologist-confirmed HS from a single healthcare system between 2018 and 2022. Primary/secondary diagnostic codes identified NCI-related hospitalizations. Multivariable logistic regression assessed risk factors. Data on nonpsychiatric hospitalizations and emergency department visits were collected for overall healthcare utilization. Among the 834 patients with HS, 6.4% were hospitalized for NCI during the study period. The most common infections were urinary tract infections (18.2%), musculoskeletal infections (13%), and COVID-19 (11.7%). The main factors associated with NCIs were public insurance (OR = 2.06, confidence interval = 1.09–3.83), chronic kidney disease (OR = 7.73, confidence interval = 2.03–29.09), and anxiety (OR = 3.27, confidence interval = 1.58–6.67). Prevalence of nonpsychiatric hospitalization was 24.6%, and that of emergency department visits was 45.3%. In conclusion, patients with HS had a significant prevalence of hospitalizations from NCIs, with urinary tract infections being the most prevalent. The risk was higher in patients with anxiety or chronic kidney disease. Future research should focus on interventions and measures to prevent infections.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 3","pages":"Article 100349"},"PeriodicalIF":0.0,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143509334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Commentary on “Capture of patient itch scores in practice reveals disparate itch impact based upon age, gender and race: A cross-sectional survey analysis.” 评论“在实践中捕获患者瘙痒评分揭示了基于年龄，性别和种族的不同瘙痒影响：一项横断面调查分析。”

JID innovations : skin science from molecules to population health Pub Date : 2025-01-21 DOI: 10.1016/j.xjidi.2025.100352

Suephy C. Chen

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Detection by Single-Cell RNA Sequencing of Virally Mediated Skin Diseases 单细胞RNA测序检测病毒介导的皮肤病

JID innovations : skin science from molecules to population health Pub Date : 2025-01-11 DOI: 10.1016/j.xjidi.2025.100348

Linda Zhou , Thomas H. Leung

{"title":"Detection by Single-Cell RNA Sequencing of Virally Mediated Skin Diseases","authors":"Linda Zhou , Thomas H. Leung","doi":"10.1016/j.xjidi.2025.100348","DOIUrl":"10.1016/j.xjidi.2025.100348","url":null,"abstract":"<div><div>Viruses are well-documented agents of specific skin diseases. However, their role and precise mechanism of action in other skin diseases remain unknown. We describe a single-cell RNA-sequencing–based strategy to interrogate human skin biopsies for viral transcripts, permitting detection of viral infection within a sample, single-cell resolution of virally infected cells and identification of subsequent transcriptomic perturbations. We validate our pipeline with 100% sensitivity and specificity by (i) detecting Merkel cell polyomavirus in Merkel cell carcinoma samples, (ii) detecting specific human papillomavirus strains in known human papillomavirus–positive tumors, and (iii) detecting rubella virus transcripts in patients with known rubella-associated granulomas. We identify infection of known and previously unreported cell types and elucidate viral-mediated transcriptional perturbations. In rubella virus–infected cells, we discover macrophage-specific evolution of the rubella virus E1 capsid protein. Finally, we interrogate skin biopsies from many established nonvirally mediated inflammatory skin diseases and do not find consistent evidence of viral infection in any condition. Combining single-cell RNA-sequencing data with virome detection strategies represents a potentially powerful approach to investigate and elucidate virus-mediated gene regulation in health and disease.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 3","pages":"Article 100348"},"PeriodicalIF":0.0,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143377720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0