The prevalance of AAGAB assosiated punctate palmoplantar epidermal differentiation disorder has only been estimated twice, in Slovenian and Croatian populations to 1.17 and 3.3 per100,000 respectively. This manuscript provides global and ancestry specific prevalance estimates, using large-scale genomic reference datasets. We estimate the global prevalance to a minimum of 12.4 per 100,000, suggesting previous underrecognition of the disease.
Abstract Background Traditional vitiligo assessment methods rely on subjective evaluation and two-dimensional photographic analysis, limiting consistency and accuracy in clinical practice. Objectives To develop and validate an artificial intelligence (AI)-assisted, three-dimensional (3D) reconstruction-based system to accurately and objectively quantify facial vitiligo lesions. Methods In this diagnostic study, standardized three-view clinical facial photographs from patients with facial vitiligo seen at a tertiary referral centre between 2022 and 2024 were retrospectively analysed. After excluding incomplete or poor-quality images, 329 patients were included. A deep learning segmentation model was trained to detect depigmented lesions and applied to 3D reconstructions with surface mapping to assess facial curvature. Performance was compared with manual assessments made by board-certified dermatologists, with and without AI guidance, across two sessions. Results The AI segmentation model achieved consistently high boundary delineation (F1 score > 0.98) and robust lesion identification accuracy (median Dice similarity coefficient approximately 0.85). When integrated into dermatologists’ evaluations, AI assistance markedly reduced mean absolute error in lesion quantification (3.13 vs. 6.71) compared with manual assessment alone. Correlation with reference lesion areas also showed a higher Pearson correlation coefficient (r = 0.92 vs. 0.84), indicating enhanced reliability. Bland–Altman analysis further revealed reduced systematic bias and narrower limits of agreement, supporting the reproducibility of AI-assisted quantification. Collectively, these findings indicate that AI guidance not only improves segmentation performance but also augments the accuracy and consistency of clinical interpretation. Conclusions This study demonstrates the potential clinical impact of AI-assisted 3D reconstruction. The system provides precise and standardized quantification of facial vitiligo lesions by incorporating surface curvature into lesion mapping. Compared with manual assessments, AI-based support improved diagnostic accuracy, reduced interobserver variability and offered consistent measurements across sessions. These findings highlight the promise of integrating AI-driven 3D tools into routine dermatological practice to enhance patient monitoring and optimize treatment planning.
The rise of articles published in biomedical and life sciences is staggering. The sheer numbers of biomedical publication make it impossible for a practising dermatologist to keep up with the literature and has ramifications for the entire medical publishing industry. Quantity does not equate to quality as evidenced by the rising number of retractions in dermatology. Of particular concern is the number of publications that are misleading or just wrong, yet evade scrutiny, and persist in the literature shaping clinical practice. Research-on-research (also known as meta-research or RoR) scrutinises these studies from a bird's-eye view.
BACKGROUND:Mohs micrographic surgery (MMS) is a tissue-sparing alternative for standard excision (SE) for the treatment of cutaneous squamous cell carcinoma (CSCC). Due to its complete margin control, MMS theoretically results in fewer recurrences. However, prospective studies comparing recurrence risk between MMS and SE remain limited, and no randomized controlled trials exist. In clinical practice, MMS tends to be selectively offered for higher-risk tumours, particularly those in cosmetically sensitive areas. OBJECTIVES:To compare 5-year recurrence rates between MMS and SE for primary CSCC, and secondarily to compare metastasis rates and the ratio of final defect size to initial tumour size. METHODS:Prospective multicentre cohort study of patients with primary CSCCs treated with MMS or SE at six centres in the Netherlands. To detect all recurrences, patients were linked to the Dutch Nationwide Pathology Databank. The Fine and Gray competing risk regression model was used to assess the subdistribution hazard ratio (sHR) for recurrence, adjusting for confounders. RESULTS:A total of 761 patients with 903 completely excised primary CSCCs were included: 629 treated with SE and 274 with MMS. Reflecting the selective use of MMS for higher-risk CSCC, tumours treated with MMS were more often classified as high AJCC-8 stage (≥ T2, 55% vs. 25%; p < 0.001), and more frequently located in the H-zone (77% vs. 37%, p < 0.001). The 5-year cumulative incidence of recurrence was 1.7% (95%CI 0.9%-3.0%) for SE and 3.3% (95%CI 1.6%-5.9%) for MMS. After adjustment for AJCC-8 stage, the sHR for recurrence after MMS compared to SE was 1.51 (95% CI, 0.66-3.44; p = 0.33). The 5-year cumulative incidence of metastasis was 0.8% (95%CI 0.3%-1.8%) for SE and 1.1% (0.3%-3.0%) for MMS. The ratio of final defect size to initial tumour size was smaller for MMS (1.2 vs. 3.0, p < 0.001). CONCLUSIONS:No significant difference in 5-year recurrence rate was found between MMS and SE, however, given the non-randomized design and the limited number of events, definitive conclusions about whether a true difference in efficacy exists cannot be drawn. MMS resulted in smaller defects, supporting its use in cosmetically or functionally sensitive areas where tissue preservation is important.
This scoping review of 32 studies systematically mapped health domains and measurement instruments used in adult vulvovaginal lichen planus (VVLP) research. Four primary outcome domains were identified: patient-reported symptoms, clinician-assessed signs, quality of life, and "other, " with substantial heterogeneity in both domain coverage and instrument selection across studies. These findings provide an evidence-based foundation for development of a core outcome set for VVLP.
We examined why the majority (86%) of Australian dermatologists screen universally for Strongyloides prior to commencing dupilumab, despite the low seroprevalence of Strongyloides infection (1.4% in our cohort) and absence of cases of hyperinfection across 887 person-years of dupilumab exposure. This work includes an audit of 325 patients prescribed dupilumab for atopic dermatitis and a national survey of Australian dermatologists to determine screening practices. We found that universal screening occurs due to concern regarding the mechanism of action of dupilumab conferring high risk of disseminated Strongyloidiasis, peer practice and lack of screening guidelines. The strongest motivator to change this practice would be the introduction of screening guidelines.
Inconsistent outcome selection and measurement remain major barriers to evidence synthesis in dermatology. We introduce the CHORD COUSIN Collaboration (C3) Manual and Checklist, developed through an international collaborative process, which consolidates existing methodological guidance into a structured, practical framework to support the development and implementation of core outcome sets. By improving standardization and providing methodological support, C3 aims to enhance comparability across studies and strengthen dermatological research.
In a 15-year cohort of 265 patients with primary cutaneous lymphomas, diagnostic delay was shaped by lesion morphology and the initial diagnostic impression. Nodular/tumoral lesions were diagnosed earlier, whereas presentations initially interpreted as benign inflammatory dermatoses, particularly psoriasis, showed longer delay. Diagnostic delay did not predicted adverse outcome.
BACKGROUND:T cells are often enriched at barrier tissues, yet little is known of their roles in barrier sensing and relevance to associated disease. CD1a is a Major Histocompatibility Complex class I-like molecule expressed by Langerhans cells, which forms complexes with lipid antigens to facilitate recognition by non-classical CD1a-reactive T cells. OBJECTIVES:Langerhans cells are altered in lesional atopic dermatitis (AD) skin, but the role of CD1a in disease pathogenesis has not been extensively investigated. METHODS:Human skin challenge, single cell and spatial transcriptomic based approaches and functional immunology were used to assess the role of CD1a in AD pathogenesis. RESULTS:Skin allergen challenge in individuals with AD induced skin CCL17 and CCL22 concentrations that promoted CCR4+ T cell migration. Single cell resolution proteo-transcriptomics from human lesional AD skin tissue identified a dominant CCL17/22 source as a persistent population of activated skin CD1a+ dendritic cells (DCs) previously shown to be transiently enriched in human skin wounds. Single-cell resolution spatial tissue analyses showed that these cells were predominantly located within lesional sub-epidermal microcompartment clusters co-localising with distinct subpopulations of Th2 cells. Activated skin DCs expressed neutral sphingomyelinase, which processed inhibitory long chain sphingomyelin to drive Th2 cell CD1a-autoreactivity. CONCLUSIONS:In summary, the findings are consistent with human CD1a-autoreactive T cells sensing of chronic skin barrier compromise through detection of altered sphingomyelin cycle activity, with implications for the pathogenesis of atopic and related disease.
Although immune-targeted therapies, particularly agents targeting the IL-23/IL-17 axis, have markedly improved short-term disease control in psoriasis, inadequate responses in a subset of patients and relapse after treatment discontinuation remain unresolved challenges. One possible reason is that immune-centered therapies may not fully address the active contribution of epidermal keratinocytes (KCs) to inflammatory amplification and disease persistence. In this review, we integrate immune-driven inflammation and epidermal amplification mechanisms from a loop- and network-based perspective, and propose an immune-epidermal dual-targeting framework centred on pro-inflammatory feedback between immune cells and KCs. We systematically summarize three potential implementation routes: combination therapy, single-agent dual targeting and blockade of bridging nodes within immune-epidermal feedback circuits. We further discuss the potential roles and realistic boundaries of artificial intelligence and multi-omics analysis, organoids and engineered skin models, and precision local delivery technologies in target discovery, mechanistic validation and therapeutic translation. Importantly, this framework is not intended to replace existing therapeutic paradigms, but rather to refine their mechanistic interpretation and extend future therapeutic strategies. It may provide additional translational opportunities for stratified, stage-specific and precision management of psoriasis, although several components remain at the stage of mechanistic research and clinical validation.
Using established COSMIN standards, we evaluated the content validity of the Numeric Rating Scale (NRS), Visual Analogue Scale (VAS), and ItchyQoL in mycosis fungoides and Sézary syndrome. Rating the worst itch in the past 24 hours by the NRS had the strongest support for assessing itch intensity, whereas the ItchyQoL captured important impacts on sleep, scratching, and anger/irritability but did not fully reflect the complexity of itch in this population.
The Finger-tip Unit (FTU) has guided topical corticosteroid dosing in eczema since 1991, but does it work in practice? Drawing on published research and parent lived-experience, we highlight confusion around FTU-based guidance, from inconsistent prescribing outcomes to variability in finger size and nozzle standards. We argue the FTU is better suited to clinicians than patients, and call for research comparing it against simpler advice like "apply a thin layer."
In a previous randomised intra-individually-controlled clinical trial on early post-surgical scars, we found that dissolvable microneedle patches embedded with small interfering RNA (siRNA) against secreted protein acidic and rich in cysteine (SPARC) (siSPARC) significantly reduced scar volume compared to silicone sheets. The current pilot study builds on the Previous Study and investigates whether dissolvable microneedle patches embedding siRNA against SPARC and IL4-RA (siSPARC+siIL4RA) (Dual-siRNA Therapy) confers further clinical improvement in flattening scars, compared to microneedle patches embedding siSPARC alone (Mono-siRNA Therapy).
Among patients with vitiligo, repigmentation improves perceived social outcomes but does not fully alleviate psychological burden. Nearly half of repigmented patients report fear of losing regained pigmentation, highlighting treatment durability as an overlooked patient-relevant outcome.
Prior to the approval of spesolimab as the first treatment for generalised pustular psoriasis, it was made available to patients via expanded access programmes in Japan, China and Argentina. As a secondary objective, the safety and tolerability of spesolimab was evaluated in the population of real-world patients with GPP.
BACKGROUND:Non-syndromic hereditary hypotrichosis (NSHH) is a genetically heterogeneous disorder characterized by sparse or absent hair growth. Comprehensive genotype-phenotype correlation analyses remain limited, particularly in the Chinese population. OBJECTIVES:To define the genetic and phenotypic spectrum of NSHH in a Chinese cohort and to explore genotype-phenotype correlations with potential clinical utility. METHODS:This observational multicenter study included 47 unrelated families (107 affected individuals) with clinically and genetically confirmed NSHH. Genetic analysis was performed using next-generation sequencing with Sanger validation. Clinical features, including age at onset, severity, hair shaft morphology, and extracranial hair involvement, were systematically analysed and correlated with causative genes. RESULTS:Eleven causative genes were identified in 47 unrelated families, with LIPH (n=18, 38.3%), LSS (n=10, 21.27%), and HRURF (n=7, 14.89%) being the most prevalent. NSHH showed marked phenotypic heterogeneity with genotype-dependent patterns in age at onset, severity, and hair shaft morphology. Congenital onset was common in LIPH, LSS, and HRURF, whereas postnatal onset was observed in APCDD1, KRT86, and HR. Preliminary genotype-phenotype analysis of LIPH demonstrated allele-specific effects, with c.736T>A associated variants linked to more severe hypotrichosis compared with c.742C>A. In HRURF, two recurrently affected regions were observed, involving the start codon and the region encoding amino acids 23-28. Based on these findings, a preliminary phenotype-driven candidate-gene prioritisation framework was proposed. Exploratory analysis of topical minoxidil showed variable treatment responses. CONCLUSIONS:This study defines the genetic architecture and genotype-phenotype correlations of NSHH in the Chinese population and provides a preliminary phenotype-driven framework that may assist clinical evaluation and candidate-gene prioritisation.
Insulin resistance is increasingly recognised as being closely linked to psoriasis severity and treatment response, rather than simply representing an associated metabolic comorbidity. Emerging evidence for GLP-1 receptor agonists further supports the potential for targeting metabolic dysfunction as part of psoriasis management.
