Journal of Dermatology最新文献

Wiedemann-Rautenstrauch syndrome is an extremely rare autosomal recessive progeroid disorder closely linked to mutations in POLR3A. Here, we report a case of a 4-year-old female patient carrying a novel compound-heterozygous variant in POLR3A. In addition to the classic Wiedemann-Rautenstrauch syndrome features—progressive diffuse alopecia, growth retardation, and abnormal white matter development—the patient presented with severe anemia and skin laxity, phenotypes not previously described in Wiedemann-Rautenstrauch syndrome. RT-qPCR analysis of skin tissue demonstrated a significant downregulation of POLR3A mRNA expression (p < 0.01). To our knowledge, this is the first report implicating an intronic POLR3A variant in Wiedemann-Rautenstrauch syndrome in the Chinese population, expanding both the mutational and phenotypic spectra of the disorder and underscoring its clinical heterogeneity.

Basal cell carcinoma is a common locally invasive and destructive skin cancer, if inadequately treated. Although topical noninvasive treatment has been reported, surgical excision is currently the gold standard. Surgical excision is performed with a predetermined surgical margin. There is worldwide debate on the optimal margin. Some guidelines recommend surgical margins > 4 mm; however, Asians reports suggest a narrow surgical margin may be suitable. We previously reported that a 2-mm margin is acceptable for specific tumors. We aimed to clarify whether a 2-mm margin is suitable for all lesions and the differences in local recurrence between surgical procedures (one-step or two-step surgery). We retrospectively reviewed the data of 112 patients who underwent surgical excision with predetermined 2-mm or > 2-mm margins. Pathological reports and surgical procedure databases were collected and statistically analyzed to clarify topical factors for microscopic margin clearance. We compared differences between macroscopic peripheral margins and the distance of microscopic margins and analyzed associations between surgical procedure and local recurrence. Aggressive type was significantly associated with poorly-defined borders (p < 0.01), and microscopic excisional margin positivity was correlated with tumor thickness (p < 0.01). The correlation coefficient between tumor size and tumor thickness was 0.321 and the p-value was 0.0005, indicating a weak correlation between a larger tumor size and a greater tumor thickness. The macroscopic surgical margin was significantly associated with the microscopic peripheral margin (p < 0.001). Tumor size was significantly associated with tumor thickness, and aggressive type tumors were significantly poorly defined. Additionally, tumor size, tumor thickness, and tumor subtype aggressiveness were the strongest risk factors for microscopic margin positivity. For adequate treatment, poorly defined tumors, wider tumors, and aggressive tumor types were carefully treated, and confirmation after excision with a 2-mm margin by two-step surgery or accompanied with frozen section estimation. For well-pigmented and well-defined basal cell carcinomas, a 2-mm margin may be more suitable than for the two types requiring careful treatment.

Red blood cell distribution width-to-platelet ratio (RPR), red blood cell distribution width-to-hemoglobin ratio (RHR), red blood cell distribution width-to-albumin ratio (RAR), and prognostic nutritional index (PNI) have been implicated in disease severity and prognosis. However, their role in predicting severity and mortality in Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) remains unclear. This study aimed to investigate the association between RPR, RHR, RAR, PNI and both disease severity and mortality in SJS/TEN patients. In this retrospective study, clinical data from 111 SJS/TEN patients were analyzed. RPR and other laboratory parameters were compared between survivors and non-survivors. The associations of RHR, PNI, RAR, and RPR with SJS/TEN severity were evaluated using Spearman or Pearson correlation analyses. Patients were categorized into survivor and non-survivor groups. Univariate and multivariate logistic regression analyses were employed to examine the correlations between these markers and mortality. The predictive performance of these indicators for SJS/TEN mortality was assessed using receiver operating characteristic (ROC) curve analysis. Correlation analysis revealed that RAR and RHR were positively correlated with SCORTEN, Re-SCORTRN, ABCD-10 and CRISTEN scores (p < 0.05), whereas PNI was negatively correlated (p < 0.05). Correlation analysis revealed that RPR was positively correlated with Re-SCORTRN, ABCD-10 and CRISTEN scores (p < 0.05). RAR, RPR, and RHR were identified as risk factors for mortality in SJS/TEN, while elevated PNI was a protective factor. The optimal cutoff values for RHR and RPR in predicting mortality were 0.13 (sensitivity 75%; specificity 73.6%) and 0.07 (sensitivity 90%; specificity 48.4%), respectively. These findings highlight the potential clinical utility of RHR (AUC = 0.841) and RAR (AUC = 0.729) as meaningful biomarkers for assessing SJS/TEN severity and associated mortality.

Amicrobial pustulosis of the folds (APF) is a rare, chronic-relapsing neutrophilic dermatosis characterized by sterile pustules affecting major and minor skin folds. It predominantly affects women and is frequently associated with autoimmune diseases such as systemic lupus erythematosus, inflammatory bowel disease, and autoimmune thyroiditis. Due to its rarity, standardized treatment guidelines are lacking, and management remains challenging. Systemic corticosteroids, dapsone, colchicine, methotrexate, and biologics have been employed with variable outcomes, but long-term control is often difficult to achieve. Apremilast, an oral phosphodiesterase-4 inhibitor with anti-inflammatory properties, has demonstrated efficacy in various neutrophilic dermatoses. We report two women with treatment-refractory APF who achieved clinical remission within 2 months of initiating apremilast, with sustained disease control at 6 months and successful corticosteroid tapering. A literature review of 78 APF cases confirmed a strong female predominance (93.6%) and frequent association with autoimmune conditions (91%). Systemic corticosteroids were the most frequently employed treatment but often failed to provide sustained disease control without the addition of other systemic agents. These cases represent the first reports of apremilast use in APF and suggest its potential as a safe and effective steroid-sparing option in patients with refractory disease. Further studies are needed to validate its role in this setting.

Prurigo nodularis (PN) is a chronic inflammatory skin disorder associated with various systemic disorders. However, its potential link to increased malignancy risk remains unclear. We conducted a retrospective cohort study using the US Collaborative Network in the TriNetX database, encompassing data from January 1, 2016 to January 1, 2022. Adults diagnosed with PN (n = 10 941) were matched 1:1 with controls without PN (n = 10 941) based on demographics, comorbidities, and medication use. The primary outcome was the hazard ratio (HR) for malignancy occurring between 3 months and 5 years after the index date. The HRs and 95% confidence intervals (CIs) were calculated using Cox proportional hazards models. Patients with PN exhibited a significantly increased risk of developing malignancies compared with the controls (HR 2.10; 95% CI 1.81–2.43). Notably, higher risks were observed for cutaneous squamous cell carcinoma (HR 4.24; 95% CI 2.69–6.69), basal cell carcinoma (HR 2.49; 95% CI 1.68–3.69), hematopoietic cancers (HR 1.97; 95% CI 1.26–3.06), gastrointestinal cancers (HR 1.87; 95% CI 1.24–2.81), respiratory system cancers (HR 1.86; 95% CI 1.23–2.82), and female genital cancers (HR 2.77; 95% CI 1.29–5.95). In conclusion, PN is associated with a significantly elevated risk of malignancy, particularly cutaneous cancers. These preliminary findings underscore the necessity for heightened clinical vigilance. Further prospective studies are needed to confirm this association, elucidate the underlying mechanisms, and evaluate the potential benefits of routine cancer screening in this high-risk population.