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Objectives The aim of this study is to investigate the effect of anti-interleukin (IL)-1/-6 biologics on systemic juvenile idiopathic arthritis (sJIA)-associated macrophage activation syndrome (MAS). Methods Demographic, clinical and laboratory data of patients followed up with a diagnosis of sJIA-associated MAS assessed from sixteen paediatric rheumatology centres across the country. The clinical and laboratory features of MAS developing while on biological drugs were compared with those without this treatment. Results One hundred and sixty-two patients were included in the study. Forty-five of the MAS events were detected under the effect of anti-IL-1/-6 biologics, while the patients experiencing the remaining 155 events have not received biological treatment in the last three months. Platelet count [128 (72–232) vs 199 (130–371) 109/l], ferritin level on admission [1107 (676–2050) vs 2863 (1193–9562) ng/ml], C-reactive protein level [15.4 (2.9–56) vs 90 (32–160) mg/l], erythrocyte sedimentation rate [13 (3–36) vs 43.5 (13–77) mm/h] and fever duration [5 (4–7.5) vs 10 (7–14.3) days] were found lower in the group under the impact of anti-IL-1/-6 biologics. Among patients treated with biologics, 26.6% did not meet the published 2016 MAS classification criteria at presentation. The rates of hepatomegaly and splenomegaly were relatively lower in the canakinumab-treated group when compared with those receiving other biologicals or to patients, not on biologicals. Conclusion Anti-IL-1/-6 therapies can mask the clinical and laboratory features of MAS, and proposed guidelines for MAS classification criteria may not be met. [ABSTRACT FROM AUTHOR]

Anterior chest wall involvement is frequently seen in adult patients with spondyloarthropathy and often related to advanced axial disease and rarely reported in pediatric patients. In addition, anterior chest wall involvement is frequently encountered in patients with synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. Despite treatments of these conditions were similar, differentiation of these two diseases might be challenging due to the overlapping features. Also, several rheumatic diseases, including spondyloarthropathy, could be seen in association with familial Mediterranean fever (FMF). Additionally, treatment of cases with concomitant FMF and spondyloarthropathy might be challenging due to the different biological drug needs of the diseases. Herein, we presented a case of sternoclavicular arthritis in a pediatric FMF patient for the first time and emphasize on the challenges in differentiating SAPHO from spondyloarthropathy and difficulties in treatment. [ABSTRACT FROM AUTHOR]

Background: The aim of the study was to evaluate the approaches of pediatric rheumatologists and pediatric hematologists to patients with similar musculoskeletal (MSK) complaints and to highlight the differences that general pediatricians should consider when referring patients to these specialties. Methods: This is a cross-sectional study involving the patients who applied to pediatric rheumatology centers with MSK complaints and were diagnosed with malignancy, as well as patients who were followed up in pediatric hematology centers with a malignancy diagnosis, and had MSK complaints at the time of admission. Results: A total of 142 patients were enrolled in the study. Of these patients, 83 (58.4%) applied to pediatric rheumatology centers, and 59 (41.6%) applied to pediatric hematology centers. Acute lymphoblastic leukemia (ALL) was the most common diagnosis among the patients who applied to both centers, with 80 cases (56.3%). The median age of diagnosis was 87 (interquartile range, IQR: 48-140) months. The most common preliminary diagnosis in pediatric rheumatology centers was juvenile idiopathic arthritis (JIA), with 37 cases (44.5%). MSK involvement was mainly seen as arthralgia, and bone pain. While arthralgia (92.7%) was the most common complaint in rheumatology centers, bone pain (88.1%) was more common in hematology centers. The most frequently involved joints were the knee (62.9%), ankle (25.9%), hip (25%), and wrist (14%). The most common laboratory abnormalities were high lactate dehydrogenase (LDH), high C-reactive protein (CRP), anemia, and high erythrocyte sedimentation rate (ESR). Thrombocytopenia, neutropenia, and high LDH were statistically significantly more frequent in patients admitted to hematology centers than in patients admitted to rheumatology centers (p<0.001, p=0.014, p=0.028, respectively). Patients who applied to rheumatology clinics were found to have statistically significantly higher CRP levels (p=0.032). Conclusions. Malignancies may present with only MSK system complaints in childhood. Therefore, malignancies should be included in the differential diagnosis of patients presenting with MSK complaints. [ABSTRACT FROM AUTHOR]

Objective: Chronic recurrent multifocal osteomyelitis (CRMO) is the most common autoinflammatory disease of the bone characterized by pain and inflammatory lesions without an infectious agent. The aim of this study is to evaluate the clinical, laboratory, and imaging features and treatments of paediatric patients with CRMO followed in our pediatric rheumatology clinic. Material and Methods: Medical records of ten patients diagnosed with CRMO according to Bristol diagnostic criteria between January 2018 and June 2021 were retrospectively reviewed. Results: The mean age at diagnosis was 9.3 years, and eight of the patients were male. One patient had concomitant psoriasis, two patients had familial Mediterranean fever and one patient had a history of immunoglobulin A vasculitis. Half of the patients had a moderate acute phase reactant elevation. The most frequently involved bones were the lower extremity bones. While localized magnetic resonance imaging (MRI) was the most commonly used imaging modality in the diagnosis of CRMO, silent bone lesions (15%) were detected only by the whole-body MRI. Non-steroidal anti-inflammatory drug (NSAID) was given to all patients. As second-line therapy, methotrexate and pamidronate were employed on seven and five patients respectively. Three of the patients received anti-TNF treatment (etanercept and infliximab) as the third-line therapy. Imaging with whole-body MRI is important due to clinically silent bone lesions, especially in the course of CRMO. Conclusion: Concomitant familial Mediterranean fever was not rare in cases with CRMO and treatment of CRMO might be challenging due to the need for anti-TNF treatment in a considerable number of patients. [ABSTRACT FROM AUTHOR]

Trichorhinophalangeal syndrome is a rare disease caused by variations in the TRPS1 gene. The disease is characterized by slowly growing hair/nail and skeletal malformations, including brachydactyly and cone-shaped epiphysis. Hip problems are frequently observed, and musculoskeletal pain associated with hypermobility may also occur. Recognition of dysmorphic features associated with this rare disease may lead to prompt diagnosis and improved care of these patients. Herein, we present a paediatric case with longstanding complaints diagnosed with the trichorhinophalangeal syndrome. [ABSTRACT FROM AUTHOR]