JID innovations : skin science from molecules to population health最新文献

Machine Learning for Early Detection of Hidradenitis Suppurativa: A Feasibility Study Using Medical Insurance Claims Data

JID innovations : skin science from molecules to population health Pub Date : 2025-03-10 DOI: 10.1016/j.xjidi.2025.100362

Waqar Ali , Jonathan Williams , Betty Xiong , James Zou , Roxana Daneshjou

{"title":"Machine Learning for Early Detection of Hidradenitis Suppurativa: A Feasibility Study Using Medical Insurance Claims Data","authors":"Waqar Ali , Jonathan Williams , Betty Xiong , James Zou , Roxana Daneshjou","doi":"10.1016/j.xjidi.2025.100362","DOIUrl":"10.1016/j.xjidi.2025.100362","url":null,"abstract":"<div><div>Patients with hidradenitis suppurativa (HS) are often misdiagnosed and may wait up to 10 years to receive a diagnosis of HS. This study aimed to predict HS diagnosis prior to actual diagnosis on the basis of previous medical history using models developed with insurance claims data. Three machine learning models were compared with a model using features selected by a dermatologist (clinical baseline model). The study analyzed 5,900,000 United States individuals’ insurance records over 13.5 years. The population included 13,886 patients with HS with at least 1 claim in each of the 2 years prior to their first HS diagnosis and 69,428 control patients with no HS diagnosis. The models aimed to classify HS diagnosis status on the basis of clinical features observed over 2 years. Model performance was assessed by area under the receiver operating characterisitic curve, F1-score, and precision and recall rates. The machine learning models (logistic regression, random forest, and XGBoost) showed a higher area under the receiver operating characterisitic curve than the clinical baseline model (logistic regression = 0.75, random forest = 0.79, XGBoost = 0.80, clinical = 0.71). In the clinical model and the best-performing XGBoost model, the top features associated with diagnosis were patient age at prediction and sex. The XGBoost model top features also included the use of sulfamethoxazole/trimethoprim and clindamycin phosphate and obesity.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 3","pages":"Article 100362"},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704061","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

Metabolomic and Lipidomic Alterations in Patients with Atopic Dermatitis with Dupilumab-Associated Ocular Surface Disease

JID innovations : skin science from molecules to population health Pub Date : 2025-03-08 DOI: 10.1016/j.xjidi.2025.100361

VijayKumar Patra , Nora Woltsche , Natalie Bordag , Urban Cerpes , Danijela Bokanovic , Maria Repelnig , Yohann Clement , Isabella Perchthaler , Harald Köfeler , Manuela Fischl , Franz Legat , Andreas Wedrich , Jutta Horwath-Winter , Sophie Ayciriex , Peter Wolf

{"title":"Metabolomic and Lipidomic Alterations in Patients with Atopic Dermatitis with Dupilumab-Associated Ocular Surface Disease","authors":"VijayKumar Patra , Nora Woltsche , Natalie Bordag , Urban Cerpes , Danijela Bokanovic , Maria Repelnig , Yohann Clement , Isabella Perchthaler , Harald Köfeler , Manuela Fischl , Franz Legat , Andreas Wedrich , Jutta Horwath-Winter , Sophie Ayciriex , Peter Wolf","doi":"10.1016/j.xjidi.2025.100361","DOIUrl":"10.1016/j.xjidi.2025.100361","url":null,"abstract":"<div><div>Atopic dermatitis (AD) is an inflammatory skin disease characterized by chronic pruritic eczema with an estimated prevalence of 10% in adults and 50% of them suffering from moderate-to-severe manifestations. Dupilumab, an IL-4/IL-13 inhibitor, is approved for treating moderate-to-severe AD. However, dupilumab-associated ocular surface disease (DAOSD) emerges in up to 60% of dupilumab-treated patients, constituting a major AD-specific adverse event. DAOSD pathogenesis has not been fully understood yet. To elucidate the metabolic changes occurring after dupilumab treatment in patients with AD, we focused in this prospective single-center cohort study particularly on patients who developed DAOSD. In total, 20 patients with AD underwent dupilumab therapy, with 6 developing DAOSD. Plasma and serum samples were collected at baseline, 4 and 16 weeks after treatment initiation, and during the conjunctivitis episode. In addition, 10 age- and sex-matched healthy controls were sampled solely at baseline. High-resolution mass spectrometry was employed for metabolomic and lipidomic analysis of all blood samples. Targeted metabolomics and lipidomic with multivariate analysis unveiled significant metabolic and lipidic disparities (such as increased activity of benzoic acid, tyrosine and indole metabolism, and others) between AD patients with and those without DAOSD. Metabolomics and lipidomic analysis further deepen our comprehension of DAOSD pathogenesis.</div></div>","PeriodicalId":73548,"journal":{"name":"JID innovations : skin science from molecules to population health","volume":"5 3","pages":"Article 100361"},"PeriodicalIF":0.0,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143768509","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

Integration of Longitudinal Clinical, Immunologic, and Environmental Data for Enhanced Disease Monitoring and Management in Pemphigus Vulgaris: A Case Study

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

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

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

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

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

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

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

Commentary on “Capture of patient itch scores in practice reveals disparate itch impact based upon age, gender and race: A cross-sectional survey analysis.”

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

Suephy C. Chen

引用次数: 0