Juvenile eosinophilic fasciitis: a single center case series.

BACKGROUND: Eosinophilic fasciitis (EF) is a rare disease characterized by skin induration and musculoskeletal abnormalities. Diagnostic criteria for EF are based on adult populations. There is a need to expand the literature on EF in children due to limited reported cases and potential differences compared to adults. METHODS: We conducted a retrospective review of medical records for six pediatric patients diagnosed with EF at our institution between November 2011 and April 2023. Inclusion criteria required patients to be under 18 years of age at the time of diagnosis and to have confirmed diagnosis through clinical history, imaging, and histology. RESULTS: Most of our cohort were female (83%) and non-Hispanic white (50%). Age at diagnosis ranged from 4 to 16 years. Duration of symptoms before diagnosis varied from 1 to 12 months. Follow-up periods ranged from 14 to 123 months. Concurrent medical conditions included localized scleroderma, acquired thrombophilia, and juvenile idiopathic arthritis. Patients presented with progressive painful swelling, severe joint limitations, and positive prayer sign. Initial regimens involved corticosteroids and methotrexate. Hydroxychloroquine, immunoglobulin, mycophenolate mofetil, rituximab, and tocilizumab were also used depending on the patient's disease severity and course. CONCLUSIONS: Juvenile EF may manifest as swelling and progressive induration without apparent skin abnormalities. Unlike adult populations, no underlying malignancies or associations with trauma were observed in our cohort. Our cases did not exhibit systemic involvement observed in previous studies on juvenile EF. While non-specific, the prayer sign may aid in early recognition of juvenile EF and help prevent long-term disability.

Barriers to care in juvenile localized and systemic scleroderma: an exploratory survey study of caregivers' perspectives.

BACKGROUND: Juvenile localized scleroderma (LS) and systemic sclerosis (SSc) are rare pediatric conditions often associated with severe morbidities. Delays in diagnosis are common, increasing the risk for permanent damage and worse outcomes. This study explored caregiver perspectives on barriers they encountered while navigating diagnosis and care for their child's scleroderma. METHODS: In this cross-sectional study, caregivers of juvenile LS or SSc patients were recruited from a virtual family scleroderma educational conference and a juvenile scleroderma online interest group. The survey queried respondents about their child's condition and factors affecting diagnosis and treatment. RESULTS: The response rate was 61% (73/120), with 38 parents of LS patients and 31 parents of SSc patients. Most patients were female (80%) and over half were non-Hispanic white (55%). Most families had at least one person with a college education or higher (87%), traveled ≤ 2 h to see their rheumatologist (83%), and had private insurance (75%). Almost half had an annual household income ≥ $100,000 (46%). Families identified the following factors as barriers to care: lack of knowledge about scleroderma in the medical community, finding reliable information about pediatric scleroderma, long wait times/distances for a rheumatology/specialist appointment, balance of school/work and child's healthcare needs, medication side effects, and identifying effective medications. The barrier most identified as a major problem was the lack of knowledge about juvenile scleroderma in the medical community. Public insurance, household income less than $100,000, and Hispanic ethnicity were associated with specific barriers to care. Lower socioeconomic status was associated with longer travel times to see the rheumatologist/specialist. Diagnosis and systemic treatment initiation occurred at greater than one year from initial presentation for approximately 28% and 36% of patients, respectively. Families of LS patients were commonly given erroneous information about the disease, including on the need and importance of treating active disease with systemic immunosuppressants in patients with deep tissue or rapidly progressive disease. CONCLUSION: Caregivers of children with LS or SSc reported numerous common barriers to the diagnosis, treatment, and ongoing care of juvenile scleroderma. The major problem highlighted was the lack of knowledge of scleroderma within the general medical community. Given that most of the caregiver respondents to the survey had relatively high socioeconomic status, additional studies are needed to reach a broader audience, including caregivers with limited English proficiency, geographical limitations, and financial constraints, to determine if the identified problems are generalizable. Identifying key care barriers will help direct efforts to address needs, reduce disparities in care, and improve patient outcomes.

Recurrent Rash in an 11-Year-Old Boy With Pericardial and Pleural Effusions.

An 11-year-old, previously healthy boy presented to the emergency center (EC) for acute respiratory distress in the setting of 5 months of recurrent and worsening rash with progressive fatigue, shortness of breath, chest pain, and cough. At the onset of his rash, he and his younger brothers were diagnosed with roseola. Although his brothers' symptoms resolved, the patient's rash recurred, prompting his primary care provider to prescribe amoxicillin. The rash subsequently worsened, so amoxicillin was stopped; a prednisone course was prescribed which alleviated the rash. Upon completion of the prednisone course, the rash returned more diffusely with associated symptoms of shortness of breath, chest pain, and cough. Because of these symptoms, his mother brought him to the EC, where his vitals were notable for tachypnea and tachycardia. His initial EC imaging workup was remarkable for an echocardiogram with a mild to moderate circumferential pericardial effusion, chest x-ray (CXR) with a large right pleural effusion, and chest computerized tomography significant for prominent and diffuse mediastinal and hilar lymphadenopathy with numerous enlarged axillary lymph nodes. Laboratory results were notable for elevated liver enzymes, inflammatory markers, d-dimer, and brain natriuretic peptide. Differential diagnosis remained broad, including infectious, oncologic, and rheumatologic etiologies. Our panel of experts reviews the evaluation, hospital course, and treatment of this patient presenting with an unusual rash and serositis.

Severe Pediatric COVID-19 Pneumonia Treated With Adjuvant Anakinra.

BACKGROUND AND OBJECTIVES: To compare previous hemophagocytic lymphohistiocytosis criteria with adult coronavirus disease 2019 (COVID-19)-associated hyperinflammatory syndrome (cHIS) criteria for the diagnosis of hyperinflammation in pediatric patients with COVID-19. The secondary objective was to assess treatment response to intravenous (IV) anakinra in these patients. METHODS: This case series included children admitted to the PICU for COVID-19 pneumonia with hyperinflammation and treated with IV anakinra between July 2020 to April 2021. Hyperinflammatory criteria were determined for each patient. Clinical course, chest imaging, and inflammatory marker trends were assessed pre- and post-anakinra treatment. RESULTS: All patients had a cHIS criteria score of ≥5. Two patients met 2004-hemophagocytic lymphohistiocytosis criteria. Only the patient that required extracorporeal membrane oxygenation met the H-Score cut-off value. All but one patient had a decrease in their inflammatory markers and improvement in clinical status with early initiation of adjunctive IV anakinra. CONCLUSIONS: In this case series, adult cHIS criteria were successfully used to identify pediatric COVID-19 patients with hyperinflammation. Ferritin levels decreased after the early initiation of IV anakinra.

Transfusion-Transmitted Malaria: Two Pediatric Cases From the United States and Their Relevance in an Increasingly Globalized World.

In non-endemic settings, transfusion-transmitted malaria (TTM) is rare but potentially fatal and becoming more common with globalization. We present two pediatric cases that demonstrate donor screening using questionnaires is subject to error and that TTM should be considered with fever following numerous transfusions in children, particularly sickle cell patients.