DermatologyPub Date : 2024-01-01Epub Date: 2023-11-08DOI: 10.1159/000535056
Weiwei Wu, Nan Gao, Junya Han, Yan Zhang, Xianfeng Fang
{"title":"Efficacy and Safety of Newer Topical Therapies in Psoriasis: A Systematic Review and Network Meta-Analysis.","authors":"Weiwei Wu, Nan Gao, Junya Han, Yan Zhang, Xianfeng Fang","doi":"10.1159/000535056","DOIUrl":"10.1159/000535056","url":null,"abstract":"<p><strong>Introduction: </strong>Psoriasis is a chronic immune-mediated skin disease. Several clinical trials have studied some topical drugs aiming at new therapeutic targets. However, the comparative efficacy and safety of different concentrations and frequencies of newer topical drugs for psoriasis remain unclear. The aim of our study is to assess the comparative efficacy and safety of some newer topical treatments in patients with psoriasis.</p><p><strong>Methods: </strong>A systematic review and network meta-analysis (NMA) was conducted using eligible randomized controlled trials (RCTs). Treatments included topical therapeutic aryl hydrocarbon receptor (AhR)-modulating agent (TAMA), topical phosphodiesterase type 4 (PDE-4) inhibitors, and topical janus kinase-signal transducer and activator of transcription (JAK-STAT) inhibitors. The primary efficacy assessment criterion was the proportion of patients' achieving Physician's Global Assessment 0/1 (PGA response). Secondary criterion was ≥75% reductions in the Psoriasis Area and Severity Index (PASI75). Adverse events (AEs) to represent the safety were also summarized.</p><p><strong>Results: </strong>Among 6 including newer topical drugs, odds of achieving both PGA response and PASI75 were higher with all regimens of TAMA and roflumilast cream versus vehicle. In terms of safety outcomes, odds of AEs were also higher with all regimens of TAMA. There were no statistically significant differences between topical JAK-STAT inhibitors and vehicle for any outcome, except ruxolitinib ointment 1% once daily (QD).</p><p><strong>Conclusion: </strong>TAMA had a good therapeutic effect on plaque psoriasis but a relatively low treatment safety. Roflumilast cream had both promising efficacy and higher safety.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"1-12"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71520795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DermatologyPub Date : 2024-01-01Epub Date: 2024-05-20DOI: 10.1159/000539356
Sophie Soyeon Lim, Ji Su Lee, Hyun Jeong Ju, Jung Min Bae, Seong Jin Jo, Je-Ho Mun
{"title":"Preoperative Mapping Biopsies with Local Excision in the Treatment of Extramammary Paget Disease: A Retrospective Cohort Study, Systematic Review, and Individual Patient Data Analysis.","authors":"Sophie Soyeon Lim, Ji Su Lee, Hyun Jeong Ju, Jung Min Bae, Seong Jin Jo, Je-Ho Mun","doi":"10.1159/000539356","DOIUrl":"10.1159/000539356","url":null,"abstract":"","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"615-619"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141070381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DermatologyPub Date : 2024-01-01Epub Date: 2024-06-08DOI: 10.1159/000539687
Juan He, Tengyu Weng, Wei Zhang, Anqi Li, Xianfu Meng, Wenwei Zhu, Jia Bai, Yonghong Hao, Yi Yang, Chengxin Li
{"title":"The Typical Nail Lichen Planus Severity Index: An Outcome Instrument for Typical Nail Lichen Planus.","authors":"Juan He, Tengyu Weng, Wei Zhang, Anqi Li, Xianfu Meng, Wenwei Zhu, Jia Bai, Yonghong Hao, Yi Yang, Chengxin Li","doi":"10.1159/000539687","DOIUrl":"10.1159/000539687","url":null,"abstract":"<p><strong>Introduction: </strong>Despite numerous treatment options for nail lichen planus (NLP), a validated method for measuring the severity of NLP and therapeutic response in clinical trials is absent. The aim of the study was to develop and validate a measurement instrument, Typical Nail Lichen Planus Severity Index (tNLPSI), for typical NLP that could be used in clinical trials.</p><p><strong>Methods: </strong>A total of 48 patients pathologically confirmed with typical NLP were enrolled in this study. Five dermatologists were trained to use the tNLPSI activity scale and the Physician's Global Assessment (PGA) scale to score samples independently to estimate inter-rater and intra-rater reliability across two sessions. In addition, tNLPSI activity scores were compared with PGA scores to assess the construct validity.</p><p><strong>Results: </strong>The tNLPSI activity scale had excellent internal consistency and inter-rater reliability (Cronbach's alpha 0.990; ICC = 0.954; 95% CI = 0.930-0.971), and the correlations between the different graders' scores indicate good consistency (rp = 0.934-0.968). In addition, the tNLPSI activity scale demonstrated high intra-rater reliability (ICC = 0.996; 95% CI = 0.993-0.998), showing good reproducibility. And tNLPSI activity scores and PGA scores showed good construct validity (Spearman's rho = 0.941 and Spearman's rho = 0.903-0.935, respectively; p < 0.01).</p><p><strong>Conclusion: </strong>The tNLPSI activity scale was demonstrated to be consistent, reliable, reproducible, and feasible, making it a potential valuable tool for evaluating the treatment response in typical NLP clinical trials.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"758-766"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141295707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DermatologyPub Date : 2024-01-01Epub Date: 2024-10-08DOI: 10.1159/000541886
Trang Nguyen Thi Thuy, Kien Trung Nguyen, Bang Le Nguyen, Tam Tran Thi Minh, Hung Do Tran, Hung Gia Tran
{"title":"IL36RN Mutations and Correlated Characteristics in Generalized Pustular Psoriasis Patients in Can Tho City, Vietnam: A Cross-Sectional Study.","authors":"Trang Nguyen Thi Thuy, Kien Trung Nguyen, Bang Le Nguyen, Tam Tran Thi Minh, Hung Do Tran, Hung Gia Tran","doi":"10.1159/000541886","DOIUrl":"10.1159/000541886","url":null,"abstract":"<p><strong>Introduction: </strong>Pustular psoriasis is a rare and severe form of psoriasis characterized by sterile pustules on an erythematous background. The disease ranges from localized to generalized forms, with the latter being particularly life-threatening and recurrent. Understanding the genetic basis of pustular psoriasis, particularly IL36RN mutations, is crucial for developing better treatments. This study aimed to determine the prevalence and types of IL36RN gene mutations and their relationship with clinical and paraclinical features in patients with pustular psoriasis in Can Tho City, Vietnam.</p><p><strong>Methods: </strong>A cross-sectional study was conducted at Can Tho Dermatology Hospital involving 59 patients diagnosed with generalized pustular psoriasis (GPP) according to ERASPEN and Japanese Dermatological Association criteria. Data on demographic, clinical, and laboratory characteristics were collected. IL36RN gene mutations were identified through genomic DNA sequencing. Statistical analyses were performed to explore associations between IL36RN mutations and clinical features.</p><p><strong>Results: </strong>The study included 59 participants, predominantly female (69.5%), with an average age of 39.12 years. A significant proportion (83.1%) had a history of psoriasis, with frequent recurrences (94.9%). The most common IL36RN mutation identified was p.Arg10ArgfsX1, present in 44.1% of patients. Other mutations included p.Pro76Leu (20.3%) and p.Arg102Trp (1.7%). Patients with IL36RN mutations were younger and had an earlier disease onset. Significant associations were found between IL36RN mutations and clinical features such as fever (OR = 11, p < 0.0001) and geographic tongue (OR = 14.67, p < 0.0001).</p><p><strong>Conclusion: </strong>Our study reveals a high prevalence of IL36RN mutations, particularly p.Arg10ArgfsX1, in Vietnamese pustular psoriasis patients, strongly associating these mutations with clinical features like fever and geographic tongue.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"750-757"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142388792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DermatologyPub Date : 2024-01-01Epub Date: 2024-10-04DOI: 10.1159/000540360
Liv C Hoffmann, Lars E French, Markus Reinholz, Miklós Sárdy, Andreas Wollenberg, Annette Kerschnitzki, Orsolya N Horváth
{"title":"Trichophyton soudanense, Trichophyton violaceum, and Trichophyton tonsurans in Munich: Travel- and Migration-Related Cutaneous Fungal Infections.","authors":"Liv C Hoffmann, Lars E French, Markus Reinholz, Miklós Sárdy, Andreas Wollenberg, Annette Kerschnitzki, Orsolya N Horváth","doi":"10.1159/000540360","DOIUrl":"10.1159/000540360","url":null,"abstract":"<p><strong>Introduction: </strong>Trichophyton soudanense, Trichophyton violaceum, and Trichophyton tonsurans are considered rare pathogens in Germany. They are presumed to infect people from Germany when they are traveling to tropical and subtropical areas. The incidence and the mode of infection with these three fungal pathogens in Munich were investigated to assess their significance for clinical practice.</p><p><strong>Methods: </strong>This monocentric study was conducted at a large European academic dermatology department in Munich from January 1, 2011, till August 30, 2020. We performed a retrospective analysis of medical data of all out- and inpatients presenting at our hospital with a suspected cutaneous fungal infection.</p><p><strong>Results: </strong>A total of 87,229 swabs were collected from 48,916 patients; 11,513 (13.2%) cultures confirmed a fungal infection. One of the three aforementioned dermatophytes was detected in 247 (2.1%) samples. The average patient age was 15.5 years (0-84 years, SD: 15.6) at the time of infection. T. tonsurans was the confirmed pathogen in 137 (55.5%) samples with increasing frequency over time. T. tonsurans spread in 11 cases through close contact with humans (kindergarten, martial arts, accommodation for asylum seekers). T. violaceum was detected in 88 (35.6%) samples with a peak in 2016 and 2017. T. soudanense was detected in 22 (8.9%) samples. A total of 46.7% of all tinea capitis cases were caused by one of these pathogens.</p><p><strong>Conclusion: </strong>In case of tinea capitis, a travel history should be performed and rare fungal infections should be considered in the differential diagnosis.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"910-916"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DermatologyPub Date : 2024-01-01Epub Date: 2024-01-16DOI: 10.1159/000536130
Ying Wang, Lixin Chen, Bei Qin, Xibo Gao, Qinfeng Li
{"title":"Preliminary Evaluation of in vivo Reflectance Confocal Microscopy Features of Neonatal Lupus Erythematosus.","authors":"Ying Wang, Lixin Chen, Bei Qin, Xibo Gao, Qinfeng Li","doi":"10.1159/000536130","DOIUrl":"10.1159/000536130","url":null,"abstract":"<p><strong>Introduction: </strong>Neonatal lupus erythematosus (NLE) is a rare autoimmune disease, which needs to be distinguished from eczema, congenital syphilis, and tinea corporis in newborns. Reflectance confocal microscopy (RCM) could be a helpful noninvasive diagnostic tool, which has been used to evaluate several inflammatory skin conditions. The aim of this study was to describe the RCM characteristics of NLE.</p><p><strong>Methods: </strong>Eleven NLE patients were included in the study, and all patients were evaluated clinically with RCM. We also evaluated RCM images from 11 eczema patients as controls.</p><p><strong>Results: </strong>Some major key diagnostic features of NLE can be observed by RCM: an enlarged honeycomb pattern (9/11, 81.8%), round-to-oval cyst-like structures were present (6/11, 54.5%), the normal ring-like structures were totally or partially obliterated (11/11, 100%) at the level of the dermo-epidermal junction, medium refractivity collagen fibers that were disorganized (10/11, 90.9%), numerous high refractivity round cells (11/11, 100%) in the dermis.</p><p><strong>Conclusion: </strong>RCM allows the visualization of major key diagnostic features of NLE and serves as a complementary diagnostic tool for NLE.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"312-316"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10997260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139478048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DermatologyPub Date : 2024-01-01Epub Date: 2024-06-27DOI: 10.1159/000539372
Deepak M W Balak, Elfie Deprez, Niels Timo Hilhorst, Isabelle Hoorens, Jan Gutermuth, Willem Jan W Bos, Jo Lambert
{"title":"Value-Based Healthcare: A Primer for the Dermatologist.","authors":"Deepak M W Balak, Elfie Deprez, Niels Timo Hilhorst, Isabelle Hoorens, Jan Gutermuth, Willem Jan W Bos, Jo Lambert","doi":"10.1159/000539372","DOIUrl":"10.1159/000539372","url":null,"abstract":"<p><strong>Background: </strong>Value-based healthcare (VBHC) is an increasingly employed strategy to transform healthcare organizations into economically sustainable systems that deliver high-value care. In dermatology, the need for VBHC is evident as chronic skin diseases require long-term, often expensive treatments. This narrative review aims to introduce dermatologists to the principles and implementation of VBHC.</p><p><strong>Summary: </strong>VBHC emphasizes maximizing outcomes that are directly relevant to patients. Key components of VBHC include a systematic assessment of standardized patient-relevant outcomes by using core outcome sets and measurement of healthcare cost for the individual patient. Systematic reporting and comparing of risk-adjusted outcomes across the full cycle of care for a specific condition provide benchmarked feedback and actionable insights to promote high-value care and reduce low-value care. VBHC aims to organize care around the patient in condition-specific and team-based integrated practice units with multidisciplinary collaboration, utilize information technology platforms to enable digital data monitoring, reduce cost, and eventually reform payment systems to support bundled payments for the overall care cycle. VBHC implementation in practice necessitates the establishment of a systematic framework for outcome-based quality improvement, the incorporation of value and outcomes in shared decision-making practices, and the cultivation of a value-centric culture among healthcare professionals through continuous training.</p><p><strong>Key messages: </strong>Dermatologists can benefit from implementing VBHC principles in their practice. An essential step toward value-driven dermatological care is to start measuring outcomes relevant for patients for each patient, which is lacking partly due to the absence of core outcome sets developed for clinical practice. By reducing low-value care and emphasizing optimal patient-centered outcomes, VBHC has the potential to improve the quality of care and ensure cost containment. Efforts are needed to enhance the development and uptake of VBHC in dermatological clinical practice to realize these benefits.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"814-822"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11651326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141455830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DermatologyPub Date : 2024-01-01Epub Date: 2024-11-11DOI: 10.1159/000542001
Shoham Baruch, Dan Ben Amitai, Rivka Friedland
{"title":"Rebound Growth of Infantile Hemangiomas after Propranolol versus Atenolol Treatment: A Retrospective Study.","authors":"Shoham Baruch, Dan Ben Amitai, Rivka Friedland","doi":"10.1159/000542001","DOIUrl":"10.1159/000542001","url":null,"abstract":"<p><strong>Introduction: </strong>Propranolol is the first-line treatment for complicated infantile hemangioma (IH). Rebound growth following propranolol discontinuation is reported in 6-25% of patients. Atenolol is considered an effective alternative to propranolol. We aimed to compare the incidence of IH rebound growth following discontinuation of atenolol and propranolol and to identify associated risk factors.</p><p><strong>Methods: </strong>We reviewed the medical records of all the patients diagnosed with IH and treated with oral propranolol or atenolol during 2009-2019 in our tertiary center. Inclusion criteria were completion of at least 3 months of initial treatment and at least 3 months of follow-up after discontinuation of initial treatment.</p><p><strong>Results: </strong>Of 445 patients in total, 267 (60%) were treated with propranolol and 178 (40%) with atenolol. The incidence of rebound growth was similar between the groups: 59 (22.1%) and 40 (22.5%), respectively. Patients treated with atenolol required a shorter duration of treatment after rebound growth until growth arrest (9.41 ± 5.61 vs. 14.79 ± 10.02 months, p < 0.001). For the patients who initiated atenolol before the age of 5 months, the adjusted odds ratio (aOR) for regrowth was 0.6 (95% CI: 0.33-1.08). As duration of treatment increased, the risk of rebound growth increased; the aOR was 1.24 (95% CI: 1.10-1.38). No other significant risk factors for rebound growth were identified.</p><p><strong>Conclusions: </strong>The incidence of rebound growth was similar following treatment with two oral β-receptor blockers. Treatment initiation after the age of 5 months and long duration of treatment may increase the risk for regrowth. These findings should be further investigated as they may impact clinical decisions on treating IH.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"879-884"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11651323/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DermatologyPub Date : 2024-01-01Epub Date: 2024-09-13DOI: 10.1159/000541395
Yunbu Ding, Chaofan Wang, Lingbo Bi, Yimei Du, Changpei Lu, Min Zhao, Weixin Fan
{"title":"Dutasteride for the Treatment of Androgenetic Alopecia: An Updated Review.","authors":"Yunbu Ding, Chaofan Wang, Lingbo Bi, Yimei Du, Changpei Lu, Min Zhao, Weixin Fan","doi":"10.1159/000541395","DOIUrl":"10.1159/000541395","url":null,"abstract":"<p><strong>Background: </strong>Androgenetic alopecia (AGA) is a common skin disease characterized by gradually miniaturized hair follicles, which manifests as progressive hair thinning and produces a bald appearance. Currently, finasteride is approved by the Food and Drug Administration (FDA) for the treatment of AGA, but its efficacy remains poor in some patients.</p><p><strong>Summary: </strong>Compared to finasteride, oral dutasteride has better efficacy and similar tolerability, and most adverse events are mild and reversible, making it an effective option for AGA, but its sexual adverse events and potential psychiatric risks still need to be concerned. Mesotherapy with dutasteride and microneedling combined with dutasteride solution can reduce adverse events caused by oral medication and exhibit certain efficacy, but standardized treatment protocols and large-scale clinical trials are still needed in the future. Liposomes or nanoparticles of dutasteride are under development and may become an efficient topical formulation.</p><p><strong>Key messages: </strong>We have summarized the efficacy and AEs of dutasteride in treating AGA under different administration methods and the promise of novel topical drug carriers.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"833-843"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142281845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Discovery and Potential Functional Characterization of Long Noncoding RNAs Associated with Familial Acne Inversa with NCSTN Mutation.","authors":"Yanyan He, Wenzhu Wang, Xiao Ma, Zhimin Duan, Baoxi Wang, Min Li, Haoxiang Xu","doi":"10.1159/000531978","DOIUrl":"10.1159/000531978","url":null,"abstract":"<p><strong>Background: </strong>Long noncoding RNAs (lncRNAs) are associated with many dermatologic diseases. However, little is known about the regulatory function of lncRNAs in familial acne inversa (AI) patients with nicastrin (NCSTN) mutation.</p><p><strong>Objectives: </strong>The aim of this study was to explore the regulatory function of lncRNAs in familial AI patients with NCSTN mutation.</p><p><strong>Methods: </strong>The expression profiles of lncRNAs and mRNAs in skin tissues from familial AI patients with NCSTN mutation and healthy individuals were analysed in this study via RNA sequencing (RNA-seq).</p><p><strong>Results: </strong>In total, 359 lncRNAs and 1,863 mRNAs were differentially expressed between the two groups. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses revealed that the dysregulated mRNAs targeted by lncRNAs were mainly associated with the immune regulation, Staphylococcus aureus infection and B cell receptor signalling pathways. The lncRNA-miRNA-mRNA coexpression network contained 265 network pairs comprising 55 dysregulated lncRNAs, 11 miRNAs, and 74 mRNAs. Conservation analysis of the differentially expressed lncRNAs between familial AI patients with NCSTN mutation and Ncstn keratinocyte-specific knockout (NcstnΔKC) mice identified 6 lncRNAs with sequence conservation; these lncRNAs may participate in apoptosis, proliferation, and skin barrier function.</p><p><strong>Conclusions: </strong>These findings provide a direction for exploring the regulatory mechanisms underlying the progression of familial AI patients with NCSTN mutation.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"119-131"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9867624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}