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Interleukin 1 (IL-1), a central mediator of innate immunity, is considered a master cytokine of local and systemic inflammation. IL-1 has emerged as pivotal in the pathogenesis of autoinflammatory diseases (AIDs), and blockade of its pathway has become a crucial target for therapy. Anakinra (ANA), a recombinant IL-1β receptor antagonist, was the first anti-IL-1 agent employed in clinical practice. ANA is currently approved for the treatment of rheumatoid arthritis, systemic juvenile idiopathic arthritis, adult-onset Still’s disease, and cryopyrin-associated autoinflammatory syndrome. It has also been successfully used for off-label treatment of various monogenic, polygenic, or undefined etiology systemic AIDs. This review describes currently available evidence for the off-label use of ANA in pediatric rheumatologic diseases. Specifically, the use of ANA in Kawasaki disease, idiopathic recurrent pericarditis, Behçet disease, monogenic AIDs, undifferentiated AIDs, chronic non-bacterial osteomyelitis, macrophage activation syndrome, and febrile infection-related epilepsy, in terms of its safety and efficacy. In selected pediatric rheumatic disorders, the off-label administration of ANA appears to be effective and safe. In order to control severe and/or relapsing disease, ANA should be considered as a valuable treatment option in children suffering from rare inflammatory diseases. However, currently available data consist of retrospective studies and short case series; thus, randomized controlled trials and larger series with long-term follow up are mandatory to better assess the efficacy and cost effectiveness of ANA in these challenging patients.

Background and objective: Acute severe colitis (ASC) is a potentially life-threatening event. Optimal timing for second-line treatment in children is mainly based on the clinical score Pediatric Ulcerative Colitis Activity Index. The aim of our study was to evaluate the potential role of bowel ultrasound scan (BUS) in predicting the need of second-line therapy in ASC. Methods: Patients younger than 18 years admitted to a single tertiary referral center with ASC were included. We retrospectively reviewed medical records collecting clinical and BUS data. Colonic wall thickness (CWT), loss of colonic wall stratification (CWS), presence of hyperechoic lymph nodes, and colonic wall flow evaluated at power Doppler were assessed at BUS performed within the third day of hospitalization. Results: Sixty-nine ASC episodes from 52 different patients were identified. CWT showed significantly higher values in patients who required second-line therapy (5.14 vs 3.69 mm; P < 0.001). Loss of CWS was present in 17 of 36 (47.2%) of steroid-resistant ASC versus only 1 of 33 of those responding to intravenous corticosteroids (P < 0.001, sensitivity = 47%, specificity = 97%). Using a receiver operating characteristic curve, a cut-off of 3.4 mm was individuated for CWT to predict steroid treatment failure, showing a sensitivity of 92% and a specificity of 52%. The multivariable binary logistic regression analysis identified thickened colonic wall (CWT >3.4 mm) and loss of CWS as independent predictors of steroid resistance. Conclusions: BUS is a noninvasive, easily accessible, and cost-effective resource that may identify at an early stage first-line therapy failure in pediatric ASC.

Two articles this week focus on Erdheim-Chester disease (ECD), a rare histiocytosis that mainly affects adults. Clonal somatic mutations primarily involving proteins in the BRAF and MPAK pathways have established ECD as a myeloid neoplasm, with targeted therapies now available for patients. In the first paper, an international panel presents new consensus recommendations for evaluation and treatment of ECD. In the second paper, Pegoraro and colleagues present long-term outcomes of patients with ECD treated with sirolimus, with responses in patients both with and without BRAF mutations.

Pediatric rheumatic diseases are often characterized by an evolving phenotype, resulting in diagnostic dilemma for physicians involved in their management. Although several classification criteria are used in childhood to uniform patients’ diagnoses, several conditions share similar clinical features and therefore their classifications may overlap or be ambiguous. This is particularly paradigmatic for the classification of juvenile spondyloarthritis (JSpA), as the currently available criteria do not encompass their complexity. The differential diagnosis of sacroiliitis is often challenging for clinicians and requires considering several conditions, which include infective, neoplastic and rheumatic diseases. We report the case of a 13‐year‐old boy with an evolving clinical phenotype; its progression shows the wide differential diagnosis required in pediatric rheumatic diseases and emphasizes the issues of the actual classification system.

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