Orandi, Amir B

ABSTRACTBackgroundBlau syndrome is a rare, autosomal dominant granulomatous disease caused by mutations in the NOD2/CARD15 gene. While the classic triad of arthritis, dermatitis, and uveitis is well known, the full range of cutaneous manifestations remains underexplored.ObjectiveTo expand the understanding of cutaneous findings in Blau syndrome, correlate these findings with NOD2 variants, and evaluate treatment outcomes across organ systems.MethodsA retrospective review of medical records from January 1999 to January 2024 identified 14 patients with Blau syndrome supported by the presence of NOD2 variants. Clinical data on dermatological features, genetics, and treatment responses were analyzed and categorized into specific and non‐specific cutaneous findings.ResultsOf the 14 patients with Blau syndrome, 85% (12/14) demonstrated skin involvement. Specific findings included lichenoid or granulomatous papules and nodules (50%, 6/12), while non‐specific findings (83%, 10/12) were more diverse, including dermatitis (6/10), chronic urticaria (5/10), ichthyosiform eruptions (4/10), vasospastic disorders (5/10), and oral/genital ulcers (2/10). Skin biopsies in three patients with specific findings revealed non‐caseating granulomas. Genetic analysis identified multiple NOD2 variants, though no clear genotype–phenotype correlation was observed. TNF‐alpha inhibitors demonstrated efficacy in controlling ocular and joint disease.ConclusionBlau syndrome presents with a broader spectrum of cutaneous findings than previously recognized. These findings highlight the importance of dermatological evaluation and a multidisciplinary approach to optimize diagnosis and management.

Background: Many health care organizations offer pediatric infusions in outpatient infusion centers or, as in our organization, in a hospital-based outpatient Pediatric Infusion Therapy Center (PITC). When restrictions related to the COVID-19 pandemic decreased our PITC appointment capacity by 40%, other patient and family satisfaction issues were exacerbated. We implemented a new approach to pediatric infusions with the aim of improving patient and family satisfaction and reducing the amount of time in an appointment itinerary without negatively affecting patient safety. Methods: Our team used a phased approach to pilot the administration of short chemotherapy infusions in the same outpatient clinic examination rooms where consultation and routine office visits were conducted. Patients saw their specialist for an examination and, if clinically indicated, their infusion was administered in the same room. Appointment itineraries were then completed. The team tracked efficiency, satisfaction, and safety metrics related to the new process. Results: All efficiency metrics improved. No harm came to the 49 unique patients who received a total of 184 infusions. Patient appointment itineraries were shortened by an average of 1.03 hr. Satisfaction survey responses indicated a clear preference (93%) for the new process. Discussion: The novel approach of offering short infusions in outpatient clinic examination rooms provides an opportunity to ease capacity constraints and further increase patient and family satisfaction. This method may be especially helpful for health care organizations when external influences (e.g., lack of physical space, challenging patient volumes, and pandemics) necessitate a change.

AbstractTumor necrosis factor‐alpha inhibitor therapy for inflammatory bowel disease may be associated with paradoxical cutaneous adverse events, most commonly psoriasiform eruptions. We present the case of a pediatric female patient with Crohn's disease who developed multiple concurrent cutaneous eruptions while on infliximab treatment, including morphea, psoriasiform dermatitis, and genital lichen sclerosus. Although refractory to skin‐directed treatments, all three conditions resolved upon discontinuation of infliximab, supporting their development as a paradoxical reaction to infliximab therapy.

Abstract Background High-intensity glucocorticoid regimens are commonly used to induce and maintain remission in Juvenile Dermatomyositis (JDM) but are associated with several adverse side-effects. Eminence-based treatment guidelines from CARRA and SHARE both advocate induction of intravenous pulse steroids followed by high dose oral steroids (2 mg/kg) tapered over 12 months. This study compares the time to disease control with reduced glucocorticoid dosing. Methods We retrospectively reviewed the records at a single tertiary-care children’s hospital of patients with JDM between 2000 and 2014 who had a minimum of 2 years of follow-up. The primary outcome measure was time to control of muscle and skin disease. Additional outcome measures included glucocorticoid dosing, effect of treatment on height, frequency of calcinosis and complications from treatment. Results Of the 69 patients followed during the study period, 31 fulfilled inclusion criteria. Median length of follow-up was 4.58 years, (3–7.5). Myositis control was achieved in a median of 7.1 months (range 0.9–63.4). Cutaneous disease control was achieved in a median of 16.7 months (range 4.3–89.5). The median starting dose of glucocorticoids was 0.85 mg/kg/day, (range 0.5–1.74). The median duration of steroid treatment was 9.1 months, (range 4.7–17.4), while the median duration of any pharmacotherapy was 29.2 months (range 10.4 to 121.3). Sustained disease control off medications was achieved in 21/31 (68%) patients by the end of review. Persistent calcinosis was identified in only one patient (3%). Conclusion Current accepted treatment paradigms for JDM include oral glucocorticoids beginning at 2 mg/kg/d reduced over 12 months; however, our results suggest that treatment using reduced doses and durations with early use of steroid-sparing agents are comparably effective in achieving favorable outcomes in JDM.