Nilay Duman

Pemphigus is a rare autoimmune blistering disease for which rituximab is a first‐line treatment, yet most safety data derive from lymphoma and rheumatoid arthritis cohorts. This study assessed hypogammaglobulinemia and infection during rituximab treatment, the baseline predictors of new‐onset hypogammaglobulinemia, and whether desmoglein antibody titers and total immunoglobulin levels fall together. In this single‐center retrospective cohort study, the records of 97 patients given rituximab for pemphigus between January 2015 and June 2026 were reviewed. Patients who received intravenous immunoglobulin were excluded, leaving 69 patients for outcome analyses. Among 51 patients with a normal baseline immunoglobulin G level, new‐onset hypogammaglobulinemia, defined as a fall below 700 mg/dL after treatment, occurred in 5 (10%), and no patient reached the severe threshold of 400 mg/dL. Seven further patients were already below 700 mg/dL before treatment. Patients who developed new‐onset hypogammaglobulinemia were older and had lower baseline immunoglobulin G and immunoglobulin M levels (areas under the curve 0.85, 0.83, and 0.81). Patients with hypogammaglobulinemia had received more corticosteroid per cycle, so a contribution of corticosteroids cannot be excluded. Late‐onset neutropenia was not detected (0 of 69). Infection occurred in 5 of 69 patients (7%) and severe infection in 2 of 69 (3%). 6 months after induction, desmoglein 1 and desmoglein 3 antibody titers had fallen to 16% and 19% of baseline ( p < 0.001), whereas immunoglobulin G remained at 97% ( p = 0.46), independently of hypogammaglobulinemia. Hypogammaglobulinemia remained mild and the serologic response was not mirrored in total immunoglobulin levels. Advanced age and low baseline immunoglobulin levels are candidate markers of risk. These findings come from a retrospective single‐center cohort and require confirmation in larger series.

Background/Objectives: Chemotherapy drug (ChD)-induced maculopapular eruptions (MPEs) may interrupt optimal cancer treatment when no equally effective alternative therapy is available. Evidence supporting rapid drug desensitization (RDD) for delayed-type MPE remains scarce. We aimed to evaluate the feasibility and safety of RDD in patients with ChD-induced MPE. Methods: Adult patients with ChD-induced MPE who underwent RDD between January 2021 and January 2024 were evaluated. Delayed MPE recurrence was assessed until the subsequent chemotherapy cycle. Results: A total of 63 RDD procedures were performed in 10 patients with ChD-induced MPE, most commonly triggered by taxanes and platinum agents. The median onset of the index reaction was 60.0 h (24.0–336.0), and delayed intradermal tests were positive in 2 of 9 tested patients (22.2%). No delayed MPE recurrences were observed during the predefined follow-up period until the subsequent chemotherapy cycle. Immediate breakthrough reactions occurred in 3 of 10 patients (30.0%), corresponding to 17 of 63 RDD procedures (27.0%), and were limited to mild flushing and pruritus that resolved with antihistamines with or without low-dose corticosteroids. All RDD procedures were successfully completed without severe systemic reactions, and all patients were discharged on the same day. Conclusions: In carefully selected patients with delayed-type MPE, RDD appears to be a feasible and safe short-term strategy for enabling continuation of essential chemotherapy within the predefined observation period. As this pilot study includes a small and heterogeneous patient population with limited follow-up, the findings should be considered preliminary and hypothesis-generating and warrant confirmation in larger prospective studies with longer follow-up.

Background/Objectives: Histologic regression in primary cutaneous melanoma has shown inconsistent prognostic associations, and its relevance to immune checkpoint inhibitor (ICI) outcomes in patients who later develop recurrent or metastatic disease remains unclear. Methods: This retrospective single-center cohort included 81 patients with resected stage I–III cutaneous melanoma who later developed recurrent or metastatic disease and received ICIs. Histologic regression was classified as present or absent based on primary pathology reports. Objective response rate (ORR) and disease control rate (DCR) were assessed according to RECIST v1.1. Progression-free survival (PFS) and overall survival (OS) from ICI initiation were estimated using Kaplan–Meier analysis and evaluated with prespecified multivariable Cox models. Results: Histologic regression was identified in 24 patients (29.6%). Baseline characteristics were largely comparable between groups, although regression was more frequent in male patients (83.3% vs 59.6%; p = 0.039). ORR was numerically higher in the regression-present group (58.3% vs 43.9%; p = 0.330), and DCR was also higher (87.5% vs 66.7%; p = 0.061). Median PFS was significantly longer in patients with regression (39.3 vs 17.8 months; log-rank p = 0.044). In multivariable analysis, regression remained independently associated with longer PFS (adjusted HR, 0.43; 95% CI, 0.19–0.94; p = 0.035), whereas no independent association with OS was observed (adjusted HR, 0.54; 95% CI, 0.28–1.06; p = 0.071). Conclusions: In patients with recurrent or metastatic melanoma treated with ICIs, primary tumor histologic regression was independently associated with prolonged PFS but not OS. These findings suggest a potential link between regression and early immune-mediated disease control, while its impact on long-term survival remains uncertain.

Dermoscopy-Guided Surveillance in Xeroderma Pigmentosum: A Retrospective Analysis - Turkish Journal of Dermatology

Genodermatoses, a group of inherited skin disorders, are characterized by significant genetic heterogeneity and clinical variability, often posing diagnostic and therapeutic challenges. Advances in next-generation sequencing (NGS) technologies, such as whole exome sequencing (WES) and clinical exome sequencing (CES), have transformed the diagnostic landscape by enabling comprehensive genetic analysis. This study aimed to investigate the molecular spectrum and clinical relevance of genetic findings in 43 patients diagnosed with genodermatoses. Demographic, clinical, and molecular data were collected, and genetic testing was performed using the MGI-Seq platform. Variants were analyzed for pathogenicity, zygosity, and novelty. Neurofibromatosis Type 1 (27.9%) and Epidermolysis Bullosa (23.2%) were the most common diagnoses, followed by Ichthyosis (16.2%) and Oculocutaneous Albinism (13.9%). Less frequent conditions included Ectodermal Dysplasia (6.9%) and single cases of Palmoplantar Keratoderma, PTEN Hamartoma Syndrome, Rothmund-Thomson Syndrome, Xeroderma Pigmentosum, and Megaconial Congenital Muscular Dystrophy (each 2.3%). Molecular findings underscored the genetic complexity of genodermatoses, with 42 distinct variants identified across 19 genes. Of these, 13 variants (31%) were novel, expanding the known molecular spectrum. The novel variants were detected in genes including NF1, COL7A1, ITGB4, COL17A1, NIPAL4, ALOX12B, KRT10, ST14, OCA2, and PTEN, highlighting the diagnostic value of comprehensive genetic analysis. The mean age at diagnosis varied significantly among conditions, reflecting the diagnostic challenges and clinical variability of genodermatoses. This study emphasizes the critical role of WES and CES in diagnosing genodermatoses and understanding their molecular basis, which enhances diagnostic accuracy and supports personalized management strategies.