Acta dermato-venereologica最新文献

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) or with migratory circinate erythema (EBS-MCE) are rare clinical subtypes, typically associated with KRT5 pathogenic variants. A clinical and molecular analysis was conducted on 49 patients from 21 unrelated families in Argentina with suspected EBS-MP or EBS-MCE. Forty-eight individuals carried KRT5 variants, with the most frequent being c.1649del, found in 44 patients from 16 families. All affected individuals inherited the variant from one parent, and shared ancestry was traced to a restricted region in northeastern Argentina. Clinical data showed early-onset blistering, followed by generalized mottled pigmentation, and progressive nail dystrophy. Migratory erythema was observed in 18 patients, resolving by age 4 in most cases. Strikingly, 3 families showed intra--familial phenotypic variability: some individuals developed only MP, while others exhibited early MCE that later evolved into MP. This suggests a dynamic phenotypic spectrum potentially influenced by modifier factors. Additionally, a novel pathogenic variant in KRT14 and a large KRT5 exon 8 deletion were identified. This study represents the first report on the molecular epidemiology of EBS-MP in a South American population with an uncharacterized genetic background, contributing novel insights into genotype-phenotype correlations and natural history of EBS-MP and EBS-MCE.

Psoriatic disease, encompassing psoriasis and -psoriatic arthritis, is a chronic inflammatory condition with bidirectional associations with type 2 diabetes mellitus. Current evidence regarding dipeptidyl peptidase-4 inhibitors' effects on psoriatic disease presents conflicting findings, with the impact on psoriatic arthritis remaining unexplored. This study aimed to investigate the association between dipeptidyl peptidase-4 inhibitors use and psoriatic disease risk in diabetic patients. A nationwide population-based cohort study was conducted using Taiwan's National Health Insurance Research Database (2009-2021), including 78,865 patients with type 2 diabetes mellitus: 15,773 dipeptidyl peptidase-4 inhibitors users and 63,092 matched controls. Primary outcomes were incident psoriasis and psoriatic arthritis. During a median follow-up of 7.08 years, 393 cases developed psoriatic disease: 51 cases in the dipeptidyl peptidase-4 inhibitors cohort vs 342 cases in controls. Dipeptidyl peptidase-4 inhibitors therapy was associated with significantly lower psoriatic disease risk (adjusted hazard ratio 0.583, 95% confidence interval 0.430-0.696). Individual dipeptidyl peptidase-4 inhibitors demonstrated varying protective effects, with alogliptin showing the strongest protection. In vitro experiments confirmed that dipeptidyl peptidase-4 inhibitors significantly attenuated inflammatory responses in human skin cells. This large-scale nationwide study demonstrates that dipeptidyl peptidase-4 inhibitors use is associated with a 41.7% lower risk in psoriatic disease in diabetic patients.

Patients with Parkinson's disease (PD) report increased pain sensitivity. Previous studies have found a larger area of itch hypersensitivity in PD patients, suggesting altered central processing. High levels of cutaneous α-synuclein, correlated with small-fibre neuro-pathy, may be another mechanism of pruritus in these patients. This study aims to characterize itch in PD patients without pruritic cutaneous disease and correlate it with disease characteristics. A total of 100 PD patients were surveyed using a modified numeric itch scale. Patients reporting chronic itch were included in the itch+ group. Demographic data were collected by retrospective chart review. In all, 41% of patients (41/100) reported itching. There was a significant correlation between PD duration and 24-h average itch severity (0.491, p = 0.002). Itch is common among PD patients, with a positive correlation between PD duration and itch severity. Further research is needed to study larger cohorts and elucidate underlying pathomechanisms. Itch is often an underappreciated symptom of PD with potentially significant quality-of-life implications. This is among the first studies to characterize the prevalence and characteristics of itch in a substantial cohort of PD patients and how they may be related to other disease characteristics.

Palmoplantar pustulosis (PPP) remains a therapeutic challenge with limited options, and recurrence is a major issue for traditional systemic therapies and biologics. Data on long-term efficacy, safety, and relapse of Janus kinase inhibitors in PPP are limited. Drug efficacy, safety, and recurrence was retrospectively evaluated in 29 PPP patients treated with tofacitinib from January 2022 to June 2024. Disease severity and efficacy were assessed using the Palmoplantar Pustular Psoriasis Area and Severity Index (PPPASI) and Palmoplantar Pustular Psoriasis Physician's Global Assessment (PPP PGA) at baseline, week 4, and week 12, with a minimum 6-month follow-up. PPP-related haematological inflammatory indicators, including plateletcrit (PCT), pan-immune-inflammation value (PIV), neutrophil/lymphocyte ratio (NLR), and monocyte/lymphocyte ratio (MLR), were also evaluated. By week 12, mean PPPASI score significantly decreased from 18.62 to 6.17 (p < 0.001), with 72.41% achieving PPPASI-50 and 62.1% achieving PPP PGA ≤ 1. Mild adverse events (gastric discomfort) occurred in 6.9% of patients. During a mean 12.2-month follow-up, 27.6% relapsed, while 34.5% maintained clearance without medication. Disease severity-related haematologic indicators, PCT, and PIV improved significantly. Tofacitinib demonstrates significant efficacy and a favourable safety profile in PPP, warranting consideration as a therapeutic option, though larger prospective studies are needed to confirm long-term outcomes.

Due to the risk of scarring and the psychological impact on affected patients, folliculitis decalvans (FD) requires prompt and focused care to control inflammation and prevent disease progression. This study aimed to provide a comprehensive long-term evaluation of treatment outcomes in difficult-to-treat cases of FD by analysing the effectiveness of various therapies and identifying reasons for treatment switches or discontinuation. The single-centre, retrospective cohort study collected information on patient characteristics and management strategies, focusing on different treatment groups and reasons for discontinuation or switching. Eighteen patients with biopsy-confirmed FD were included in the study because of their recalcitrant course (38.9% females, median age 33.0 years), with a median follow-up period of 1.5 years. During the study period, all patients received at least one pre-scription for topical therapies, primarily non-antibiotic disinfectants, topical corticosteroids, topical antibiotics, and topical dapsone. Systemic antibiotics were prescribed for 88.9% of patients, predominantly tetra-cyclines and a combination of rifampicin and clindamycin. Non-biological systemic therapies, excluding steroids, were used in 61.1% of patients, with isotretinoin being the most common (27.8%). Among immunomodulatory drugs, apremilast was prescribed to 11.1% of patients. Overall, the highest treatment discontinuation rates were observed with systemic antibiotics (risk ratio: 1.63; 95% confidence interval: 1.46-1.82), followed by systemic steroids. The treatment of patients with severe FD requires a personalized, multifaceted approach, typically involving a combination of local and systemic therapies. Antibiotics are often used as a first-line treatment, but they are associated with a high rate of discontinuation. This highlights the urgent need for effective immunomodulatory treatments, either as alternatives or as adjuncts to current options.

Chronic pruritus is a burdensome condition that frequently affects older adults, yet its epidemiology and impact on quality of life in the ageing population remain underexplored. This cross-sectional study examined the prevalence of chronic pruritus, its associated factors, and pruritus-specific quality of life in 4,474 participants (median age: 72 years; range: 48-99, 58.8% female) from the population-based Rotterdam Study. Questionnaires assessed current, 12-month, and lifetime chronic pruritus, along with the ItchyQoL. Multivariable logistic regression identified factors associated with chronic pruritus, and linear regression assessed factors linked to pruritus-specific quality of life. Principal component analysis explored the ItchyQoL's dimensional structure in this older population. Chronic pruritus prevalence was 8.6% (current), 10.5% (12-month), and 18.6% (lifetime). Female sex, older age, smoking, atopic dermatitis, psoriasis, self-reported dry skin, asthma, steatotic liver disease, polyneuropathy, depressive symptoms, anxiety, and poor sleep were associated with higher odds of chronic pruritus. Among those with current chronic pruritus, pruritus-specific quality of life was moderately impaired, with the greatest impairment associated with atopic dermatitis and psychological symptoms. Principal component analysis identified 4 ItchyQoL dimensions, extending beyond the original 3 domains. Given the cross-sectional design, directionality cannot be inferred. These findings highlight chronic pruritus as a prevalent, multifactorial condition in older adults, with significant psychological impact and implications for multidisciplinary management.