Acta dermato-venereologica最新文献

Darier disease is a monogenic acantholytic derma-tosis caused by mutations in ATP2A2 that primarily disrupt keratinocyte calcium homeostasis. Whether dermal fibroblasts harborharbour disease-associated epigenetic alterations remainremains uncharacterized. In this study, we performed genome-wide DNA methy-lation profiling on primary fibroblasts from lesional and non-lesional skin, followed by STRING protein-protein interaction network analysis to identify regulatory hub genes. Hub gene expression was validated by qPCR and cross-referenced with single-cell RNA-seq data from healthy skin and published RNA-seq data from Darier disease keratinocytes. Lesional fibroblasts showed consistent, site-specific hyper- and hypomethylation converging on inter-connected regulatory hubs. Hypomethylated hub genes included transcription factors and signalingsignalling integrators while hypermethylated hub genes comprised growth-regulatory and adhesion-related genes. Methylation direction predicted transcriptional output at 10 of 12 hub genes by qPCR. These hub genes are expressed across both fibroblast and keratinocyte populations in healthy skin, and lesional keratinocyte RNA-seq data showed directionally concordant expression changes, indicating shared transcriptional dysregulation across compartments. These findings suggest that Darier disease involves a stable fibroblast epigenetic state with cross-cell-type transcriptional relevance, potentially contributing to dermal-epidermal regulatory disruption in lesional skin.

Ichthyoses are rare genodermatoses characterized by scaling, hyperkeratosis, and barrier dysfunction, often accompanied by hypohidrosis and pruritus. Beyond visible symptoms, ichthyosis imposes substantial psychosocial, financial, and time-related challenges. This qualitative study explored patient-perceived impairments, disability, and experiences with medical and social care. Semi-structured interviews were conducted with 18 adults (13 women, 5 men; aged 18-67 years) with various ichthyosis subtypes, recruited from two specialized dermatology clinics in Germany and the patient organization Ichthyosis e.V. Reflexive thematic analysis showed that participants' daily lives were influenced not only by symptoms and time-consuming care routines but also by social and structural factors limiting participation in various life domains. Participants reported inequalities in education and employment, rejection during job seeking and at work. This can lead to social anxiety, depression, and negative self-image. Psychological strain also arises from limited treatment options and financial strain. Perceptions of disability vary, though many seek formal recognition. The impact of ichthyosis is often underestimated by healthcare professionals, complicating access to social and medical support. Dermatologists should recognize the crucial role of their diagnosis and documentation and carefully guide patients through the healthcare system to ensure appropriate socio-medical support.

Delgocitinib is a pan-Janus kinase inhibitor approved for moderate-to-severe chronic hand eczema (CHE) in adults. However, real-world evidence remains limited. We prospectively evaluated 149 adult patients (mean age: 46.4 years; 60.4 % female) treated with delgocitinib for chronic hand eczema across 20 Italian dermatology centres between May and November 2025, with a four-month follow-up. Two-thirds of patients were non-occupationally exposed, and>80% had vesicular or atopic chronic hand eczema. At week 4, Physician Global Assessment (PGA)-chronic hand eczema 0/1 and Hand Eczema Severity Index (HECSI)-75 were achieved in 42.3% and 43.8% of patients, increasing significantly to 74.3% and 88.0% at week 16. Pruritus and pain Numerical Rating Scale (NRS) 0/1 were reported in 43.8% and 52.3% of patients at week 4, rising significantly to 74.4% and 86.5% at week 16. Hand Eczema Symptom Diary-Patient Global Impression of Severity (HESD PGI-S) 0/1 increased from 45.6% to 76.6%. Non-occupationally exposed patients showed significantly higher early response rates than occupationally exposed, with attenuation of differences by week 16. HECSI-75 responses were consistent across chronic hand eczema subtypes, particularly vesicular (94.0%) and atopic (90.0%). Treatment was well tolerated, with rare and no severe adverse events reported. These findings support delgocitinib as a rapid, effective and safe treatment option for chronic hand eczema.