Cutaneous findings and treatments in deficiency of interleukin-36 receptor antagonist (DITRA): A review of the literature.

Deficiency of the interleukin-36 receptor antagonist (DITRA) is a rare autoinflammatory disorder caused by mutations in the IL36RN gene. This mutation leads to a lack of functional interleukin-36 receptor antagonists (IL-36Ra), which results in an overactive immune system and chronic inflammation. Despite its rarity, numerous case series and individual reports in the literature emphasize the importance of recognizing and managing DITRA. Early identification of the cutaneous signs of DITRA is crucial for accurate diagnosis and timely administration of appropriate treatment. This review article provides a comprehensive overview of the current understanding of the cutaneous, non-cutaneous and histopathological manifestations of DITRA, with a focus on reported treatments. The disease typically presents in early childhood, although the age of onset can vary. Patients with DITRA exhibit recurrent episodes of skin inflammation, often with a pustular or pustular psoriasis-like appearance. Additionally, non-cutaneous manifestations are common, with recurrent fevers and elevated acute-phase reactants being the most prevalent. The exact prevalence of DITRA is unknown. Some cases of loss-of-function mutations in the IL36RN gene, considered a hallmark for diagnosis, have been identified in patients with familial generalized pustular psoriasis (GPP). Biological therapies with inhibition of IL-12/23 and IL-17 are promising treatment options; paediatric patients with DITRA have shown complete response with mild relapses. New and emerging biologic therapeutics targeting the IL-36 pathway are also of interest in the management of this rare autoinflammatory disorder.

Vascular cutaneous manifestations of COVID-19 and RNA viral pathogens: a systematic review.

BACKGROUND: COVID-19, the widely recognized and highly contagious respiratory tract infection, has had a substantial impact on the field of dermatology since its emergence in 2019. SARS-CoV-2, the causative virus of COVID-19, is classified as an RNA virus. Various skin-related symptoms have been reported in patients with COVID-19, most notably the distinctive purple-red acral rash resembling chilblain lesions, commonly referred to as 'COVID toe'; similarly, skin-related symptoms have been observed in connection with other RNA viruses. OBJECTIVES: To explore the relationship between RNA viruses and their associated vascular cutaneous manifestations vs. those observed in patients infected with SARS-CoV-2. METHODS: A systematic literature review was conducted using PubMed and medical subject heading terms related to RNA viruses and related skin manifestations. RESULTS: In total, 3994 patients diagnosed with COVID-19 presenting with skin rashes were included. Chilblain-like lesions were most frequently observed (30.2%), followed by erythematous maculopapular/morbilliform rashes (9.1%) and urticarial rashes (4.7%). Of 8362 patients diagnosed with RNA viruses, more than half of the skin findings reported were erythematous/maculopapular/morbilliform rashes (52.3%), followed by unspecified (11.3%) and purpuric rashes (10.6%). CONCLUSIONS: When comparing RNA viral infections with COVID-19 infection, we observed similarities in the reported skin manifestations and their presumed pathways, with many implicated in the proinflammatory response. Owing to the wide range of cutaneous symptoms associated with RNA viruses and our currently limited understanding of the underlying mechanisms, additional research is warranted to investigate the pathology behind viral-induced skin lesions.

Unusual presentations of chronic graft versus host disease.

Skin is commonly affected by graft versus host disease (GVHD), a complication of bone marrow transplantation (BMT). One-third of hematopoietic cell transplantation recipients develop acute eruption classically described as folliculocentric, maculopapular, or morbilliform, in contrast to the more common chronic presentations of sclerotic, poikilodermic, or lichenoid dermatitides. With the wider use of non-myeloablative (reduced-intensity) transplant therapy, various atypical presentations can occur, representing a diagnostic challenge. Herein, we report an unusual case of chronic GVHD manifested by two distinct clinical and histopathological features lacking the classical presentation. Five months after her BMT, the patient presented with a papulosquamous eruption on her neck, trunk, and arms showing a psoriasiform histopathological pattern of chronic GVHD. She also demonstrated multiple small flesh-colored papules on her distal extremities showing a solitary syringotropic pattern of GVHD, demonstrated by interface dermatitis involving the superficial eccrine duct, as the only diagnostic histopathological feature of GVHD. This report, with review of literature, highlights the uncommon psoriasiform GVHD and the novel description of isolated syringotropic chronic GVHD.

Trends in sex and ethnicity among U.S. dermatopathology and Mohs surgery trainees: 2011-2021.

Dermatology has been cited as the second-least racially diverse medical specialty in the United States. In the last decade, the American Academy of Dermatology (AAD), the Skin of Color Society (SOCS), the Dermatology Section of the National Medical Association (NMA), and other stakeholders have made significant efforts to increase diversity in dermatology. This study aims to explore the potential impact of these efforts by analyzing sex and ethnic trends in ACGME-accredited dermatology fellowships; Mohs surgery, and dermatopathology, using data from 2011-2021. Our findings reveal that over the last decade, significant strides to increase sex diversity within dermatology have led to a growing number of female resident trainees (62%). This trend is also reflected in Mohs surgery (50%) and dermatopathology (52%) fellowships. In addition, the proportion of Underrepresented in medicine (URiM) fellowship trainees has also increased significantly over the last decade, with a now similar proportion of URiM trainees between dermatology residency, Mohs surgery, and dermatopathology.

Cutaneous myoepithelioma with EWSR1 gene rearrangement and its differentials: A diagnostic challenge.

Cutaneous myoepithelioma is a rare benign soft tissue neoplasm of myoepithelial cells involving the skin and subcutis. These tumors can be diagnostically challenging. The plasticity of myoepithelial cells leads to wide variability in the cytomorphology, immunophenotype, and genetic features of myoepithelioma. Their protean presentations may mimic malignant neoplasms. Therefore, distinction from malignancy is essential. Herein, we report a case of cutaneous myoepithelioma presenting similarly to Ewing sarcoma, with small round blue cells and an EWSR1 rearrangement. Our case highlights the important morphologic, immunohistochemical, and cytogenetic features of this benign basaloid cutaneous tumor.

Using electronic health records to streamline provider recruitment for implementation science studies.

BACKGROUND: Healthcare providers are often targeted as research participants, especially for implementation science studies evaluating provider- or system-level issues. Frequently, provider eligibility is based on both provider and patient factors. Manual chart review and self-report are common provider screening strategies but require substantial time, effort, and resources. The automated use of electronic health record (EHR) data may streamline provider identification for implementation science research. Here, we describe an approach to provider screening for a Veterans Health Administration (VHA)-funded study focused on implementing risk-aligned surveillance for bladder cancer patients. METHODS: Our goal was to identify providers at 6 pre-specified facilities who performed ≥10 surveillance cystoscopy procedures among bladder cancer patients in the 12 months prior to recruitment start on January 16, 2020, and who were currently practicing at 1 of 6 pre-specified facilities. Using VHA EHR data (using CPT, ICD10 procedure, and ICD10 diagnosis codes), we identified cystoscopy procedures performed after an initial bladder cancer diagnosis (i.e., surveillance procedures). Procedures were linked to VHA staff data to determine the provider of record, the number of cystoscopies they performed, and their current location of practice. To validate this approach, we performed a chart review of 105 procedures performed by a random sample of identified providers. The proportion of correctly identified procedures was calculated (Positive Predictive Value (PPV)), along with binomial 95% confidence intervals (CI). FINDINGS: We identified 1,917,856 cystoscopies performed on 703,324 patients from October 1, 1999-January 16, 2020, across the nationwide VHA. Of those procedures, 40% were done on patients who had a prior record of bladder cancer and were completed by 15,065 distinct providers. Of those, 61 performed ≥ 10 procedures and were currently practicing at 1 of the 6 facilities of interest in the 1 year prior to study recruitment. The random chart review of 7 providers found 101 of 105 procedures (PPV: 96%; 95% CI: 91% to 99%) were surveillance procedures and were performed by the selected provider on the recorded date. IMPLICATIONS: These results show that EHR data can be used for accurate identification of healthcare providers as research participants when inclusion criteria consist of both patient- (temporal relationship between diagnosis and procedure) and provider-level (frequency of procedure and location of current practice) factors. As administrative codes and provider identifiers are collected in most, if not all, EHRs for billing purposes this approach can be translated from provider recruitment in VHA to other healthcare systems. Implementation studies should consider this method of screening providers.

Partial Versus Complete Bacillus Calmette-Guérin Intravesical Therapy and Bladder Cancer Outcomes in High-risk Non-muscle-invasive Bladder Cancer: Is NIMBUS the Full Story?

BACKGROUND: It is important to understand the implications of reduced bacillus Calmette-Guérin (BCG) treatment intensity, given global shortages and early termination of the NIMBUS trial. OBJECTIVE: To assess the association of partial versus complete BCG induction with outcomes. DESIGN SETTING AND PARTICIPANTS: This is a retrospective cohort study of veterans diagnosed with high-risk non-muscle-invasive bladder cancer (NMIBC; high grade [HG] Ta, T1, or carcinoma in situ) between 2005 and 2011 with follow-up through 2014. INTERVENTION: Patients were categorized into partial versus complete BCG induction (one to five vs five or more instillations). Partial BCG induction subgroups were defined for comparison with the NIMBUS trial. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Propensity score-adjusted regression models were used to assess the association of partial BCG induction with risk of recurrence and bladder cancer death. RESULTS AND LIMITATIONS: Among 540 patients, 114 (21.1%) underwent partial BCG induction. Partial versus complete BCG induction was not significantly associated with the risk of recurrence in HG Ta (cumulative incidence [CIn] 46.6% vs 53.9% at 5 yr, p = 0.38) or T1 (CIn 47.1% vs 56.7 at 5 yr, p = 0.19) disease. Similarly, we found no increased risk of bladder cancer death (HG Ta: CIn 4.7%7vs 5.4% at 5 yr, p = 0.87; T1: CIn 10.0% vs 11.4% at 5 yr, p = 0.77). NIMBUS-like induction was associated with an increased risk of recurrence in patients with HG Ta disease, although not statistically significant. Unmeasured confounding is a limitation. CONCLUSIONS: Cancer outcomes were similar among high-risk NMIBC patients who underwent partial versus complete BCG induction, suggesting that future research is needed to determine how to optimize BCG delivery for the greatest number of patients, especially during global shortages. PATIENT SUMMARY: Outcomes were similar between patients receiving partial and complete courses of bacillus Calmette-Guérin (BCG) therapy. Future research is needed to determine how to best deliver BCG to the greatest number of patients, particularly during medication shortages.