{"title":"Dermatologic Adverse Events Following Afatinib in a Woman with Non-Small-Cell Lung Cancer: A Case Report.","authors":"Laila Tsaqilah, Ananda Dwi Putri, Erda Avriyanti","doi":"10.2147/CCID.S490820","DOIUrl":"10.2147/CCID.S490820","url":null,"abstract":"<p><p>Epidermal growth factor receptor inhibitors (EGFRI) are biological factors used in several types of cancer, including non-small-cell lung cancers (NSCLC). One of the EGFR inhibitors that has been approved for NSCLC is afatinib. Dermatologic adverse events are the most commonly reported and may impair the patient's compliance to the therapy as it causes aesthetic discomfort and significantly impact the patient's quality of life. We report a case of 31-year-old woman diagnosed with stage IV-NSCLC and treated with afatinib since nine months prior to consult who presented with acneiform rash on the face, trunk, both arms and legs; pruritic pustules and waxy scales on the scalp; xerosis and pruritus of the skin; paronychia on both toes; hair changes on the scalp, eyebrows, eyelashes, and hypertrichosis of the face. Microscopic examination with Gram smear from periungual skin showed polymorphonuclear cells (PMNs) and Gram-positive cocci bacteria. Trichoscopy examination of the hair on the scalp revealed tapering hair, pili torti, follicular hyperkeratosis, multiple hair tufts with erythema, and scaling of the skin; the eyebrow and eyelashes revealed pili torti and tapering hair. The administration of afatinib was continued and the patient was treated with moisturizer, sunscreen, and mild cleanser, topical antibiotic, and topical steroid along with oral doxycycline and oral cetirizine for four weeks. Significant clinical improvement and Dermatology Life Quality Index (DLQI) score was seen on the fourth week of observation. Dermatological adverse events present the greatest concern with EGFRIs use because it can lead to infection, pain, depression, and low self-esteem, moreover, misdiagnosis may lead to treatment discontinuation. Recognizing clinical signs, implementing preventive efforts, and appropriate management are important to improve the quality of life and patient compliance for effective therapy of underlying malignancy.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":"18 ","pages":"151-159"},"PeriodicalIF":1.9,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Successful Treatment of Pediatric Generalized Pustular Psoriasis with Secukinumab.","authors":"Keyi Yu, Huaye Bao, Xingang Wu","doi":"10.2147/CCID.S493665","DOIUrl":"10.2147/CCID.S493665","url":null,"abstract":"<p><p>Generalized Pustular Psoriasis (GPP) is a rare, severe, life-threatening form of psoriasis and often resistant to conventional systemic therapy. It can be induced by deficiency of interleukin (IL)-36 receptor antagonist. Treatment of patients with GPP is often difficult, and there is no consensus on the best options available to date. However, multiple biologics approved for use in plaque-type psoriasis have also been used in GPP. Here, we report a 6-year-old boy with GPP who was misdiagnosed with AGEP and was treated with corticosteroids but did not respond well. He showed significant improvement following secukinumab treatment. Our case report indicates that IL-17A inhibition as a promising therapeutic option for pediatric GPP without combination with other systemic agents.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":"18 ","pages":"105-108"},"PeriodicalIF":1.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745051/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001397","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cost Consciousness Among Dermatologists.","authors":"Mohammed A AlFada","doi":"10.2147/CCID.S476030","DOIUrl":"10.2147/CCID.S476030","url":null,"abstract":"<p><strong>Background: </strong>Physicians are responsible for most decisions related to resource allocation and healthcare expenditures, and should consider cost in their decision-making approach.</p><p><strong>Objective: </strong>To measure cost consciousness among dermatologists, evaluate their understanding of cost-related concepts, and explore what prevents them from factoring cost into their daily practice decisions.</p><p><strong>Methods: </strong>This cross-sectional survey-based study involved dermatologists from different practice types and work environments. The survey is split into four sections, focusing on participants' (1) demographic and workplace information; (2) knowledge of cost-related terms; (3) personal cost-consciousness level; and (4) perceived barriers to factoring cost into clinical decisions.</p><p><strong>Results: </strong>Overall, 132 practicing dermatologists participated in the survey. Approximately 82% of them had heard of cost-effectiveness, but only 10% really understood how to indicate, interpret, and calculate it, while most had never heard of cost-consciousness or cost-containment. The majority agreed that it is the responsibility of physicians to contain medication costs, and almost all agreed that physicians need to do more to limit the prescription of unnecessary medications. Sex, long work experience, mixed administrative and clinical roles, and working in a mixed practice setting were all associated with cost consciousness. Multivariate regression analysis showed a significant association between having a mixed clinical and administrative professional role and cost consciousness.</p><p><strong>Conclusion: </strong>Although most dermatologists agree that it is the responsibility of physicians to contain the cost when deciding on medication, they have limited understanding of cost-related concepts. Having a mixed clinical and administrative roles was a significant predictor of cost conscious behavior.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":"18 ","pages":"109-119"},"PeriodicalIF":1.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745169/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hend Alotaibi, Abdulaziz Madani, Mohammed AlFada, Abdulrahman Alluhaybi, Turky Alsehli, Qais Almuhaideb, Sultan Alnasser, Abdulelah Aldossari, Maha Barakeh, Renad AlKanaan
{"title":"Clinical Epidemiology and Phenotypic Characteristics of Hidradenitis Suppurativa Disease in the Central Region of Saudi Arabia: Findings from a Cross-Sectional.","authors":"Hend Alotaibi, Abdulaziz Madani, Mohammed AlFada, Abdulrahman Alluhaybi, Turky Alsehli, Qais Almuhaideb, Sultan Alnasser, Abdulelah Aldossari, Maha Barakeh, Renad AlKanaan","doi":"10.2147/CCID.S493638","DOIUrl":"10.2147/CCID.S493638","url":null,"abstract":"<p><strong>Background: </strong>Hidradenitis suppurativa (HS) is a complex condition that is often misdiagnosed, and regional data on its clinical features and risk factors are limited. This study aimed to explore the clinical epidemiology and phenotypic characteristics of HS in the central region of Saudi Arabia.</p><p><strong>Materials and methods: </strong>A cross-sectional study was conducted on HS patients at King Khalid University Hospital (KKUH) in Riyadh from December 2020 to December 2021. Clinical, epidemiological, and comorbidity data were collected, and the severity of HS was categorized with the Hurley staging system. Statistical analysis was performed with SPSS, with the significance level set to p < 0.05.</p><p><strong>Results: </strong>Of the patients, 54.8% were aged 15-30 years, 57.04% were female, and 95.56% were Saudi. Obesity was present in 48.89% of the patients, and 34.07% were smokers. The comorbid conditions included acne (10.37%), asthma (8.15%), mental disorders (2.22%), and endocrine or noncommunicable diseases (18.52%). Most patients (80.74%) had multiple affected sites. No significant associations were found between these factors and HS severity (p > 0.05).</p><p><strong>Conclusion: </strong>In conclusion, HS primarily affects young, unmarried Saudi female patients, many of whom are smokers and have comorbid conditions such as asthma and skin disorders. Clinicians should carefully assess the risk profiles of patients, particularly those with smoking habits and comorbidities, and consider screening for HS in high-risk groups.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":"18 ","pages":"129-141"},"PeriodicalIF":1.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748051/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Misdiagnosis of Leprosy with Severe Reversal Reaction as Psoriatic Arthritis: A Case Report and Literature Review.","authors":"Hendra Gunawan, Risa Miliawati Nurul Hidayah, Kartika Ruchiatan, Miranti Pangastuti, Hermin Aminah Usman, Fatimah Amalia","doi":"10.2147/CCID.S502544","DOIUrl":"10.2147/CCID.S502544","url":null,"abstract":"<p><strong>Introduction: </strong>Leprosy is a chronic granulomatous disease caused by <i>Mycobacterium leprae</i> and <i>Mycobacterium lepromatosis</i>. Meanwhile, leprosy reactions are immunologically mediated episodes of acute or subacute inflammation that occur during the chronic course of the disease. Leprosy and leprosy reaction have a wide range of clinical manifestations, including those resembling psoriatic arthritis.</p><p><strong>Case presentation: </strong>A 30-year-old male was consulted by a rheumatologist with psoriatic arthritis and psoriasis vulgaris. History of recurrent painfully swollen fingers and multiple erythematous plaques covered with thick scales in the last two years was discovered. A physical examination revealed edema on the eyelids and all fingers of both hands and feet, accompanied by painful interphalangeal joints. There were anesthetic and hypoestetic erythematous plaques covered by thick scales on both upper and lower extremities and epigastric region. Non-tender enlargements with a rubbery consistency were found on the right great auricular nerve and both common peroneal nerves. Slit-skin smear examinations from anesthetic lesions on the left arm showed bacterial index 3+, and skin biopsies from anesthetic lesions on the left thigh revealed a granulomatous reaction with epithelioid cells, Langhans giant cells, and lymphocyte infiltration. The patient was diagnosed as mid-borderline leprosy with severe reversal reaction, then received multidrug therapy-multibacillary and prednisone. The improvement of skin lesions and fingers edema were found on the 40th day of observation.</p><p><strong>Conclusion: </strong>The varying symptoms of leprosy can lead to misdiagnosis. Proper training for healthcare professionals is crucial to ensure timely and accurate treatment.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":"18 ","pages":"121-128"},"PeriodicalIF":1.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748035/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Xianfa Tang, Cuilan Hao, Min Fan, Penghao Dong, Yinyin Qi, Jinping Gao, He Huang, Mengyun Chen, Wenjun Wang
{"title":"Correlation Between the Koebner Phenomenon and Clinical Features in Vitiligo.","authors":"Xianfa Tang, Cuilan Hao, Min Fan, Penghao Dong, Yinyin Qi, Jinping Gao, He Huang, Mengyun Chen, Wenjun Wang","doi":"10.2147/CCID.S506426","DOIUrl":"10.2147/CCID.S506426","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the correlation between the presence of the Koebner phenomenon (KP) and clinical features of patients with vitiligo.</p><p><strong>Patients and methods: </strong>The clinical characteristic data, including age, age of onset, disease duration, gender, clinical stage, clinical type, family history, and comorbid immune-related diseases, of 1472 patients with/without KP were analyzed with SPSS 17.0 software.</p><p><strong>Results: </strong>Of the 1472 patients, 290 (19.70%) were positive for KP. The clinical course (6.95 vs 5.62, P = 0.015), percentage of patients with progressive stage (78.97% vs 70.05%, P = 0.002), the acrofacial type (4.49% vs 1.69%, P = 0.004), comorbid immune-related diseases (28.29% vs 19.04%, P = 0.001) and lesion area ≥2% (47.24% vs 38.24%, P = 0.005) in KP-positive group were significantly greater than those in KP-negative group. Binary logistic regression analysis found that progressive stage (P = 0.003, OR = 1.60, 95% confidence interval (CI): 1.17-2.18), area of skin lesion ≥2% (P = 0.008, OR = 1.44, 95% CI: 1.10-1.88) and comorbid immune-related diseases (P = 0.001, OR = 1.63, 95% CI: 1.21-2.20) were significantly associated with KP.</p><p><strong>Conclusion: </strong>The presence of KP in patients with vitiligo is associated with clinical progression, the acrofacial type, comorbid immune-related disease and a larger lesion area. This study suggested the presence of KP may be an indicator of disease activity and aggression, and underlay its importance in the management of disease.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":"18 ","pages":"97-103"},"PeriodicalIF":1.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Awadh Alamri, Dhaii Alzahrani, Ghadi Alharbi, Rami Jan, Lulu Abdullah Alsubaie, Amjad Alghamdi, Amal H Abualola, Abdulhadi Jfri
{"title":"The Predictive Factors of Acne Scarring and Post-Inflammatory Hyperpigmentation: A Retrospective Cohort Study.","authors":"Awadh Alamri, Dhaii Alzahrani, Ghadi Alharbi, Rami Jan, Lulu Abdullah Alsubaie, Amjad Alghamdi, Amal H Abualola, Abdulhadi Jfri","doi":"10.2147/CCID.S504281","DOIUrl":"10.2147/CCID.S504281","url":null,"abstract":"<p><strong>Introduction: </strong>Acne vulgaris, a prevalent dermatological condition, often results in long-term complications such as scarring and hyperpigmentation. While extensive research has focused on treatment modalities, there is a notable gap in understanding the factors contributing to the development of acne scarring and post-inflammatory hyperpigmentation (PIH).</p><p><strong>Purpose: </strong>This study was conducted to identify the factors contributing to the development of acne scarring and post-inflammatory hyperpigmentation (PIH).</p><p><strong>Patients and methods: </strong>This retrospective cohort study, conducted at King Abdulaziz Medical City, Jeddah, Saudi Arabia, analyzed data from patients with acne vulgaris between 2016 and 2023 using the hospital's health information system, BESTCare. Statistical analysis was performed using RStudio (R version 4.3.1). We constructed a multivariable, multinomial logistic regression model to assess the independent predictors of four acne complication groups; no scarring/PIH, scarring alone, PIH alone, and acne scarring with PIH.</p><p><strong>Results: </strong>Among 417 analyzed participants, 95 participants had acne scarring (22.8%), 93 participants had PIH alone (22.3%), and 151 participants had both acne scarring with PIH (36.2%), and only 78 participants did not develop scarring or PIH (18.7%). Isotretinoin use and papules acne were associated with increased risk of acne complications. While adapalene gel was protective against acne scarring only.</p><p><strong>Conclusion: </strong>This retrospective study sheds light on factors influencing acne scarring and PIH among Acne Vulgaris patients. Our findings provide valuable insights for tailoring interventions and advancing our understanding of acne vulgaris complications in the future.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":"18 ","pages":"143-150"},"PeriodicalIF":1.9,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11742760/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Huiting Liu, Sai Yang, Hua Xian, Yinghui Liu, Yan Zhang, Yangxia Chen, Yingping Xu, Jun Liu, Bin Yang, Ying Luo
{"title":"Unveiling the Effect of Age and IgE Level on Alopecia Areata: Insights from Comparative RNAseq Analysis.","authors":"Huiting Liu, Sai Yang, Hua Xian, Yinghui Liu, Yan Zhang, Yangxia Chen, Yingping Xu, Jun Liu, Bin Yang, Ying Luo","doi":"10.2147/CCID.S493584","DOIUrl":"10.2147/CCID.S493584","url":null,"abstract":"<p><strong>Background: </strong>Alopecia areata (AA) is a common autoimmune disease, causes sudden hair loss on the scalp, face, and sometimes other areas of the body. Previous studies have suggested more severe manifestations and higher recurrence rates in children than in adults. Moreover, pediatric AA patients with atopic predisposition often exhibit elevated IgE levels, early onset, and a poor prognosis.</p><p><strong>Purpose: </strong>This study aimed to investigate the impact of age and IgE levels on AA by conducting RNA sequencing on scalp samples from AA patients with atopic predisposition, age-matched healthy controls, and AA samples with varying IgE levels.</p><p><strong>Patients and methods: </strong>We employed the single-sample Gene Set Enrichment Analysis (ssGSEA) algorithm in conjunction with gene expression analysis to assess immune infiltration. Differential gene expression analysis was performed using the DESeq package in R. Immunohistochemical staining and qPCR was performed to validate these findings.</p><p><strong>Results: </strong>Our results revealed a more pronounced inflammatory immune infiltration in AA patients across all age groups compared to healthy controls. Pediatric AA was characterized by an upregulation of genes controlling inflammatory responses, such as the IFN-γ pathway and JAK-STAT cascade, contrasting to adult AA. Compared to age-matched healthy controls, pediatric AA patients exhibited a significant increase in the infiltration of B cell subtypes, mast cells, and regulatory T cells. Additionally, high IgE levels in AA patients led to the upregulation of IFN-γ pathway genes, compared to AA patients with normal IgE levels.</p><p><strong>Conclusion: </strong>In summary, the heightened immune and inflammatory responses, along with the more significant infiltration of immune cells in pediatric AA with atopic predisposition, may explain the increased clinical severity and recurrence rates. Dissecting these molecular mechanisms sheds some light on the contributions of age and IgE to the pathogenesis and progression of AA, revealing potential age-specific and allergy-related therapeutic targets.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":"18 ","pages":"81-95"},"PeriodicalIF":1.9,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11740549/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yuwu Luo, Weifeng Chen, Duanni Xu, Shuting Chen, Shaoyin Ma
{"title":"Acquired Vulvar Lymphangioma Following CO<sub>2</sub> Laser Treatment for Sebaceous Gland Nevus in a 10-Year-Old Girl: A Case Report.","authors":"Yuwu Luo, Weifeng Chen, Duanni Xu, Shuting Chen, Shaoyin Ma","doi":"10.2147/CCID.S503724","DOIUrl":"10.2147/CCID.S503724","url":null,"abstract":"<p><p>Acquired vulvar lymphangioma (AVL) is a rare condition characterized by abnormal lymphatic vessels in the vulva. We describe a 10-year-old female patient who presented with vulvar swelling for 23 days. She has no history of sexual assault and irradiation. Two months ago, the patient underwent CO<sub>2</sub> laser surgery for a sebaceous gland nevus on the left labia majora, resulting in delayed healing and residual scar tissue. Twenty-three days ago, swelling appeared in the external genitalia, accompanied by mild pain that worsened after activity and lessened when lying down. Treatment with anti-infection and anti-allergy medications at the previous hospital did not show significant improvement. Histopathological examination and genetic testing confirmed Our diagnosis of acquired vulvar lymphangioma with lymphedema.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":"18 ","pages":"77-80"},"PeriodicalIF":1.9,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730276/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142982754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Weizhou Qiao, Cuiping Zhu, Dan Huang, Yue Liu, Zengkai Wang, Tianjie Zhu, Qingyu Song, Xu Yang, Yueying Wang, Yushuang Wang
{"title":"The Role of Pyroptosis-Related Gene Signature and Immune Infiltration in Juvenile Dermatomyositis.","authors":"Weizhou Qiao, Cuiping Zhu, Dan Huang, Yue Liu, Zengkai Wang, Tianjie Zhu, Qingyu Song, Xu Yang, Yueying Wang, Yushuang Wang","doi":"10.2147/CCID.S492340","DOIUrl":"10.2147/CCID.S492340","url":null,"abstract":"<p><strong>Objective: </strong>Juvenile dermatomyositis (JDM) is a complex autoimmune disease, and its pathogenesis remains poorly understood. Building upon previous research on the immunological and inflammatory aspects of JDM, this study aims to investigate the role of pyroptosis in the pathogenesis of JDM using a comprehensive bioinformatics approach.</p><p><strong>Methods: </strong>Two microarray datasets (GSE3307 and GSE11971) were obtained from the Gene Expression Omnibus database, and a list of 62 pyroptosis-related genes was compiled. Differential gene expression analysis and machine learning analysis were performed to identity the hub pyroptosis-related differentially expressed genes (PR-DEGs). Functional enrichment analysis, immune cell infiltration analysis, gene set variation analysis (GSVA), and gene set enrichment analysis (GSEA) were performed to elucidate the potential roles of PR-DEGs in JDM pathogenesis.</p><p><strong>Results: </strong>A total of 2526 common DEGs were identified, among which 12 PR-DEGs were identified, with CASP1, IRF1, NOD2, and PYCARD identified as hub PR-DEGs. These genes were involved in cytokine production, inflammasome activity, necroptosis, NOD-like receptor signaling, and TNF signaling. Immune infiltration analysis showed increased pro-inflammatory immune cell infiltration in JDM patients, with PR-DEGs positively correlated with various immune cell types. GSVA and GSEA analyses demonstrated the involvement of PR-DEGs in multiple inflammation and immunity-related pathways, with the NOD-like receptor signaling pathway playing a central role.</p><p><strong>Conclusion: </strong>This study highlights the crucial role of pyroptosis in the pathogenesis of JDM, with the identified PR-DEGs potentially contributing to disease development and progression by regulating key inflammatory and immune-related pathways.</p>","PeriodicalId":10447,"journal":{"name":"Clinical, Cosmetic and Investigational Dermatology","volume":"18 ","pages":"61-76"},"PeriodicalIF":1.9,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11727505/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142977673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}