Dermatology最新文献

Background: Data from family and twin studies as well as prior genome-wide association meta-analyses suggest that hidradenitis suppurativa (HS) has a hereditary component.

Methods: Individuals with a diagnosis of HS (defined as at least one instance of ICD9 705.83 or ICD10 L73.2) were identified within the Million Veteran Program. Multi-population and population-specific (African, European, and Hispanic ancestries) case-control genome-wide association studies (GWAS) were performed. Lead single nucleotide polymorphisms (SNPs) were investigated in external resources providing phenome-wide associations (PheWAS), including UKBiobank, HugeAMP, and FinnGen. Demographic and clinical data for cases and controls were taken from the Corporate Data Warehouse and differences between the cases and control group were analyzed.

Results: 4,959 participants with HS were identified among 597,819 MVP participants. The multi-population GWAS identified two significant (p<5x10-8) loci associated with HS, including a novel HS-related variant on chromosome 6 near HLA-DRB1 (lead variant rs679242), and confirmed a previously identified locus on chromosome 17 near SOX9 (rs55811634). The following previously identified loci achieved suggestive evidence for association (p<1x10-3): , rs121908120 (2q35; WNT10A), rs10816701 (9q31.3; KLF4), rs17090189 (13q22.1; KLF5), and rs17103088 (14q24.3; TMED10).

Conclusion: The analysis of the MVP resource for HS identified a novel signal on chromosome 6 near HLA-DRB1 and identified significant evidence and suggestive evidence for several previously reported signals for HS.

Background: Rosacea is a common chronic inflammatory dermatosis with complex pathophysiology and heterogeneous clinical manifestations. Despite its prevalence, no specific serological biomarkers exist for reliable diagnosis or disease monitoring. Current reliance on subjective clinical assessment underscores the need for objective and quantifiable evaluation methods.

Summary: This comprehensive review examines the current applications and research progress of non-invasive skin imaging modalities-including computer-aided imaging analyzers, dermoscopy, reflectance confocal microscopy (RCM), optical coherence tomography (OCT), high-frequency ultrasound (HFUS), and laser speckle contrast imaging (LSCI)-in rosacea management. We also discuss the emerging potential of image-based artificial intelligence (AI) for enhancing diagnostic accuracy and clinical decision-making. The integration of multimodal imaging with AI provides a more comprehensive and objective approach to rosacea management, enabling precise subtype classification, accurate severity assessment, and improved treatment monitoring.

Key messages: Multimodal non-invasive imaging combined with AI offers a more objective and comprehensive framework for rosacea diagnosis, subtype stratification, and treatment monitoring, supporting personalized management strategies. However, clinical adoption remains limited by insufficient evidence. Future efforts should focus on large-scale validation, standardization of imaging protocols, and development of AI models that integrate multimodal data to facilitate clinical decision-making.

Background: Psoriasis is associated with an increased risk of cardiovascular disease, including myocardial infarction and coronary artery disease.

Material and methods: This single-centre observational study assessed cardiovascular risk factors in 77 adult male patients with psoriasis compared with a control group. All participants underwent echocardiography to evaluate left ventricular diastolic function.

Results: Patients with psoriasis had a higher body mass index (BMI) (p=0.062), elevated C-reactive protein (CRP) levels (p<0.001), and more frequent hypertension (p=0.001). Past and current smoking was significantly more common in the psoriasis group (p<0.05). Echocardiographic parameters were generally higher in psoriasis patients, particularly the left atrial volume index (LAVI) (median 23.72 vs. 19.5 ml/m²; p<0.01) and left ventricular mass index (LVMI) (median 99.84 vs. 93.70 g/m²; p<0.05). Subclinical cardiac damage occurred more frequently in psoriasis patients (OR=3.37, 95% CI: 1.39-9.1), remaining significant after adjustment for hypertension, smoking, and BMI (OR=2.77, 95% CI: 1.07-7.83). Logistic regression indicated that cardiac damage was associated with age, hypertension, and antihypertensive use. Psoriasis independently increased the risk of subclinical cardiac damage after adjustment for age and hypertension.

Conclusions: Patients with psoriasis should be screened early for cardiovascular disease, and preventive strategies introduced to reduce long-term risk.

Background: Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease characterized by recurrent painful nodules, abscesses, and tunnels, primarily affecting intertriginous areas. While IL-17-targeting biologics, including bimekizumab and secukinumab, have shown efficacy in moderate-to-severe HS, data in Asian populations remain limited.

Objective: To assess the clinical efficacy of secukinumab in Korean patients with moderate-to-severe HS and to perform an exploratory analysis of treatment-associated transcriptomic changes.

Methods: Twenty-five patients with moderate-to-severe HS enrolled in a Managed Access Program (MAP) cohort received secukinumab 300mg/week for 4 weeks, then every 2 weeks through week 16. Clinical outcomes were assessed every 4 weeks. Paired lesional skin biopsies (baseline and week 12) from three patients underwent RNA sequencing to evaluate transcriptomic changes.

Results: At week 16, 86.96% of patients achieved Hidradenitis Suppurativa Clinical Response (HiSCR), 78.26% reached a ≥55% reduction in the International Hidradenitis Suppurativa Severity Score System (IHS4 55), and 81.81% reported a ≥30% improvement in skin pain on the Numeric Rating Scale (NRS-30). Transcriptomic analysis revealed downregulation genes involved in epidermal development, keratinocyte differentiation, and antimicrobial response and upregulation of cell cycle-related pathways.

Conclusions: Secukinumab demonstrated substantial clinical efficacy and modulated disease-relevant molecular pathways in Korean patients with moderate-to-severe HS. These findings support its therapeutic potential in Asian populations and provide mechanistic insights into IL-17 blockade in HS.

Introduction Pemphigus is an autoimmune bullous disease caused by autoantibodies against desmoglein (DSG) 1 and/or 3 and comprises two main subtypes: pemphigus vulgaris (PV) and pemphigus foliaceus (PF). PV affects the skin and/or mucosa and includes two forms: mucocutaneous PV (mcPV; anti-DSG1 and anti-DSG3) and mucosal PV (mPV; anti-DSG3). PF, characterized by anti-DSG1 autoantibodies, is limited to the skin. Pemphigus is effectively treated with rituximab, a B cell-depleting therapy. However, about half of patients relapse, with a subset exhibiting a shift in clinical subtype following relapse, known as clinical phenotype transition. This study aims to investigate clinical phenotype transition in relapsed pemphigus patients following rituximab treatment. Methods A single centre, exploratory retrospective cohort study was conducted, reviewing the medical records of patients with pemphigus who received at least one treatment cycle of rituximab between December 2006 and December 2023. Clinical and immunological data were collected at several time points during the first cycle of rituximab treatment. Results 109 patients were included, of whom 44% (48/109) achieved sustained complete remission, while 56% (61/109) experienced relapse. Among the 61 patients who relapsed, 26% (16/61) experienced a clinical phenotype transition. All had an initial diagnosis of mcPV. Among these, 75% (12/16) transitioned from mcPV to mPV and 25% (4/16) from mcPV to PF. Clinical phenotype transitioned patients often remained seropositive for anti-DSG3 at clinical remission, a pattern not observed in patients who did not experience a clinical phenotype transition. Conclusions Clinical phenotype transition was observed exclusively in mcPV patients, suggesting that such changes do not represent a true alteration in disease subtype but rather reflect persistent activity of the same pathogenic autoantibody due to suboptimal B-cell depletion, suggesting undertreatment with rituximab. These findings support the need to refine rituximab treatment regimens to achieve complete B-cell depletion, reduce relapse rates, and optimize long-term disease control in pemphigus.

Amyloidosis is formed following deposition of protein aggregates and is classified by systemic or cutaneous deposition. These aggregates can be distributed in different organs such as the heart, liver, lungs, kidneys, and skin. Primary cutaneous amyloidosis has been classified into three groups: macular, lichen, and nodular, the former two being one often overlapping process and the latter a localized plasma dyscrasia with a small risk of representing a systemic disease. Historically, cutaneous amyloidosis has been misdiagnosed and most treatment regimens have been ineffective or only provide supportive management such as decreasing pruritus. The current standard of care, high potency corticosteroids, can provide symptomatic relief. Newer therapies may decrease amyloid deposition and progression of disease. Management of amyloidosis can be challenging. We present an update to the current approach and classification of amyloidosis and ​new emerging treatment.

Introduction: Pemphigus is a chronic autoimmune blistering disease with substantial morbidity and mortality. Although the hemoglobin-albumin-lymphocyte-platelet (HALP) index, a composite marker reflecting inflammatory and nutritional status, displays prognostic value concerning various immune-related diseases, its potential remains elusive in pemphigus. In this study, we investigated prognostic significance of the HALP index in 69 patients with pemphigus diagnosed between 2005 and 2024.

Methods: We calculated the HALP index at diagnosis and stratified using maximally selected rank statistics, identifying a cut-off value of 45.9. Using Cox proportional hazards models, patients with low HALP index (≤45.9) had significantly poorer OS and lower remission rates than those with higher HALP.

Results: Our multivariate analysis independently associated immunosuppressant use with improved OS (HR = 0.32; 95% CI: 0.13-0.79; p = 0.013), while a low HALP index was an independent mortality (HR = 2.84; 95% CI: 1.06-7.60; p = 0.038). Additionally, low HALP index was also independently associated with a longer time to remission time (HR = 0.55; 95% CI: 0.31-0.97; p = 0.039).

Conclusion: The HALP index represents a simple and readily available biomarker that independently predicts survival and remission outcomes in patients with pemphigus, potentially helping risk stratification and personalized management in clinical practice.

Introduction: The rapid integration of generative artificial intelligence (GenAI) into academic research has prompted ethical and regulatory concerns, particularly regarding its responsible use in scholarly publishing. Despite emerging recommendations from international organizations such as the Committee on Publication Ethics (COPE) and the International Committee of Medical Journal Editors (ICMJE), journal-specific guidance remains inconsistent.

Methods: This study evaluated the presence and characteristics of GenAI-related policies across 92 dermatology journals indexed in the 2024 Journal Citation Reports. Four reviewers independently assessed author instructions and publisher policies, collecting journal metrics and applying logistic regression to explore associations with guideline adoption.

Results: GenAI-specific guidance was found in 82.6% of journals, with 60.5% linking to publisher-level policies. Most journals (90.8%) prohibited GenAI authorship and required author accountability, yet only 2.6% referenced ICMJE guidance. Disclosure of GenAI use was mandated by 98.7%, although only a minority required specification of tool version (28.0%) or manufacturer (17.3%). GenAI image generation was addressed in 55.3% of policies, with ChatGPT mentioned by 46.1% of journals. COPE membership and use of COPE AI guidance were significantly associated with the presence of journal-level GenAI policies. While journals with GenAI guidance exhibited higher impact and citation metrics in univariable analysis, no predictors remained significant in multivariable models.

Conclusion: These findings highlight broad yet uneven adoption of GenAI policies in dermatology publishing. Gaps in specificity, transparency, and alignment with international standards may pose risks to research integrity, emphasizing the need for clearer, standardized, and field-specific editorial guidance on GenAI use.

Introduction: Accurate visualization of nail-matrix psoriasis remains challenging. Ultraviolet-fluorescence dermoscopy (UVF-D) may enhance detection, yet rigorous comparative data are scarce. The aim of this study was to compare the diagnostic yield of UVF-D with standard dermoscopy and naked-eye clinical examination for matrix and bed involvement in nail psoriasis.

Methods: In this single-centre prospective pilot study (March-July 2024), 35 consecutive adults with plaque psoriasis underwent triplicate assessment (clinical, dermoscopy, UVF-D) of all fingernails. Each nail quadrant was scored for matrix-Nail Psoriasis Severity Index (NAPSI) and bed-NAPSI by two blinded dermatologists in randomized order. The study was powered (80%, α = 0.05) to detect a ≥3-point mean difference in matrix-NAPSI between modalities.

Results: UVF-D identified matrix involvement in 550/1,400 quadrants (39.3%) versus 448/1,400 (32.0%) with standard dermoscopy and 441/1,400 (31.5%) clinically (p < 0.001; Kendall's W = 0.42). Mean ± SD matrix-NAPSI scores were 15.7 ± 5.3 (UVF-D), 12.8 ± 5.2 (dermoscopy), and 12.6 ± 4.8 (clinical). Thus, UVF-D detected roughly one additional matrix-affected quadrant for every seven examined and produced a higher matrix-NAPSI, underscoring its added sensitivity over conventional methods.

Conclusions: UVF-D significantly improves visualization of nail-matrix psoriasis versus standard approaches. Larger multicentre studies should validate its diagnostic and longitudinal utility.

Introduction: Pediatric-onset generalized pustular psoriasis (PGPP) is a rare inflammatory disorder characterized by recurrent flares and challenging management. This study aimed to review the clinical features, flare patterns, and treatment options.

Methods: We analyzed PGPP patients diagnosed at Beijing Children's Hospital from 2006 to 2023 who had complete medical record. Data on clinical characteristics, flare numbers, and flare duration were collected through medical record and telephone survey. The flare frequency was calculated by dividing the flare numbers by the years in each age range. Flare duration was categorized as ≤4 weeks or >4 weeks. In addition, we investigated the factors associated with flare frequency in PGPP patients.

Results: A total of 109 patients with PGPP were included in the study, with a follow-up duration ranging from 1.90 to 22.80 years. The median age of onset was 6.00 years, with a higher prevalence in males (73, 66.97%). Most patients (55, 50.46%) experienced their first flare between the ages of 7 and 12 years. A total of 45 patients (41.28%) had history of psoriasis vulgaris, 16 (14.68%) had history of acrodermatitis continua of Hallopeau, and 4 (3.67%) had history of psoriatic arthritis. Respiratory infection was the most common trigger, affecting 35 patients (32.11% of cases). The annual flare frequency was 0.68. The frequency and duration of flares showed a decreasing trend with increasing age. Earlier onset age is associated with a higher flare frequency. Before 2020, conventional therapies were most commonly used, with acitretin used in 67 patients (61.47%). Following 2020, secukinumab became the most often used medication (44 patients, 40.37%).

Conclusion: PGPP exhibits a trend toward flare decrease with age, yet recurrence remains common. Earlier onset age may be associated with higher flare frequency. At present, biologic agents are the main treatment. These findings provide new insights into PGPP.