Mukaddes Kalyoncu

Introduction: Chronic nonbacterial osteomyelitis (CNO) is a rare autoinflammatory bone disorder. To standardize management, the Childhood Arthritis and Rheumatology Research Alliance (CARRA) developed three consensus treatment plans (CTPs) (1: methotrexate or sulfasalazine [conventional disease-modifying antirheumatic drugs; DMARDs], 2: tumor necrosis factor (TNF)-alpha inhibitors (TNFi), and 3: bisphosphonates). The Clinical Disease Activity Score (CNO CDAS) was introduced to assess disease activity without relying solely on imaging. Objective: The objectives were to evaluate clinicians’ tendencies in applying CNO-CTPs and to assess treatment responses using CNO CDAS in real-world practice, including therapeutic strategies and outcomes at final follow-up. Methods: A retrospective cohort study of 171 pediatric patients with CNO from 18 centers was conducted. Disease activity was assessed using CDAS at diagnosis, at treatment modification, and at the last visit. This score incorporates clinically active lesions, patient pain, and global assessment. Treatments included NSAIDs, DMARDs, TNFi, and pamidronate. Results: Median age was 10 years at onset and 14 years at last follow-up, with a median follow-up of 36 months. The most frequent symptoms were bone pain (95.3%), activity limitation (67.8%), and fatigue (35.1%). All patients received NSAIDs; methotrexate (85.4%) and TNFi (54.4%) were commonly used. TNF inhibitors were the most used CTP, especially in patients with spinal involvement or higher MRI lesion counts, and they achieved the highest remission rate (40.4%). Of the 89 (52.0%) patients who changed treatment, 93.2% switched from DMARDs to TNFi. At the final follow-up, 62% were in medicated remission, 29.2% were in unmedicated remission, and 8.8% had active disease. CDAS scores significantly improved over time (p < 0.05). Conclusions: CARRA CTPs are effective in clinical practice, with anti-TNF therapy yielding the highest remission rates and marked improvement in CDAS.

Objectives: With advances in genetic testing, monogenic lupus is increasingly recognized, yet disease-specific classification criteria are lacking. We compared all three classification criteria sets in the same monogenic lupus cohort and, for the first time, evaluated their performance across distinct genetic pathways. Methods: This national multicentre study included 88 genetically confirmed monogenic lupus patients from 22 paediatric rheumatology centres across Türkiye. Fulfilment of the AmericanCollege of Rheumatology (ACR)-1997, Systemic Lupus International Collaborating Clinics (SLICC)-2012 and European League Against Rheumatism (EULAR)/ACR-2019 criteria and pathway-based differences in classification performance were assessed. Results: Overall, 74% (n = 65) fulfilled ACR-1997, 70.5% (n = 62) SLICC-2012 and EULAR/ACR-2019 criteria, and 62.5% (n = 55) met all three, whereas 17% (n = 15) met none. Agreement was substantial (κ = 0.63–0.73), with no significant differences between criteria (P > 0.05). Classification performance differed significantly across genetic pathways (P < 0.05), with the highest fulfilment performances in complement deficiencies and the lowest in nucleic acid metabolism and type I interferon pathway defects. Most patients who did not fulfil any classification criteria had nucleic acid metabolism and clearance defects (13/15, 86.7%). Domain-level analyses showed that classification success was mainly driven by mucocutaneous, immunologic and renal domains. Complement and immune-regulation defects showed a more classical lupus phenotype, with most fulfilling all three criteria (78.6%, 22/28 and 77.8%, 14/18), whereas the proportion was lower in type I interferon pathway and nucleic acid metabolism and clearance defects (33.3%, 2/6 and 47.2%, 17/36). No classification criteria were superior within genetic pathways. Conclusion: One-third of genetically confirmed monogenic lupus patients remained unclassified, particularly those with interferon-related and nucleic acid metabolism defects, highlighting pathway-dependent limitations of current classification criteria.

Objective: This study aimed to compare the clinical and laboratory characteristics of skin-limited and cutaneous–articular immunoglobulin A vasculitis (IgAV) in children without gastrointestinal or renal involvement, and to assess whether C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), and antinuclear antibodies (ANAs) help differentiate these phenotypes. Methods: In this single-center retrospective study, children diagnosed with IgAV were identified from electronic medical records. Patients were classified as having skin-limited or cutaneous–articular IgAV according to standardized clinical criteria. Demographic features, rash patterns, acute-phase reactants, including CRP and ESR, complete blood count parameters, complement levels, and ANA were compared between the 2 phenotypes. Results: A total of 256 children were included (102 skin-limited, 154 cutaneous–articular). Demographic characteristics, rash distribution, hospitalization rates, and relapse frequency were similar between the phenotypes. C-reactive protein and ESR levels were significantly higher in the cutaneous–articular phenotype (P < .001), whereas hematological indices and complement levels did not differ significantly between groups. The ANA positivity was approximately 3-fold more frequent in children with articular involvement (27.3% vs. 8.8%, P < .001); however, the frequency of rheumatologic disease development during follow-up was similar between phenotypes (P=.42). Receiver-operating characteristic analyses demonstrated modest discrimination with low specificities for CRP and ESR. Conclusion: Children with cutaneous–articular IgAV show a higher inflammatory profile than those with skin-limited disease. However, routine laboratory markers have limited utility for phenotypic discrimination. Despite higher ANA positivity in the cutaneous–articular phenotype, similar rates of additional rheumatologic diagnoses during follow-up suggest that this finding should be interpreted cautiously.

Introduction: Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in childhood and exhibits a heterogeneous disease course. This study aimed to analyse and identify phenotypic clusters by examining the laboratory findings, nailfold capillaroscopy results, and myositis- specific autoantibodies (MSAs) in patients with JDM. Material and methods: This retrospective cohort study included data from patients with JDM treated at the Paediatric Rheumatology Departments of 14 advanced health centres in Turkey. A categorical principal component analysis (CATPCA)-based hierarchical cluster analysis method was employed for clustering. Results: A total of 176 JDM patients were enrolled, and 5 phenotypic clusters were identified using 23 categorical variables. These clusters were interpreted as follows: Cluster A with severe muscle weakness and oesophageal involvement requiring intensive immunosuppressive treatment; Cluster B with amyopathic/hypomyopathic patients; Cluster C with skin manifestations and lung involvement; Cluster D with complicated skin manifestations; and Cluster E with classic JDM. The clinical and laboratory findings and treatments of these 5 clusters were compared. Fatigue, myalgia, photosensiti­vity, Raynaud’s phenomenon, and the use of pulse glucocorticosteroids, intravenous immuno­globulin, and cyclophosphamide treatments differed between the groups (p < 0.001, p = 0.002, p = 0.015, p = 0.036, p = 0.002, p = 0.006, and p = 0.024, respectively). Myositis-specific autoantibodies results were available for 119 patients (65.3%). The most frequent MSAs were antinuclear matrix protein 2 (26.1%) and anti-transcription intermediary factor 1 (20.9%). However, no significant differences were found in MSAs or nailfold capillaroscopy findings. Conclusions: We identified 5 clusters based on patient symptoms and findings. The identification of these 5 clusters can guide more effective treatment strategies in clinical practice. Additionally, these approaches may contribute to improving patients’ quality of life and long-term outcomes by increasing the feasibility of individualised treatment.

Introduction: Juvenile spondyloarthropathies (JSpA) are a group of chronic inflammatory diseases that differ in their clinical features and course from adult spondyloarthropathies and other subtypes of juvenile idiopathic arthritis (JIA). Therefore, defining disease inactivity in JSpA requires specific criteria. This Delphi study aimed to establish a national consensus on its core clinical, laboratory, and radiological domains. Methods: A total of 27 pediatric rheumatologists participated in the Delphi survey, conducted in two rounds. Participants were asked multiple‐choice and Likert‐type questions regarding their preferences for using domains including anamnesis, laboratory findings, imaging methods, and predefined disease activity scores for assessing inactivity. At the end of each round, the study coordinators determined the “strong consensus” items based on a power analysis of these parameters. Results: The absence of “pain or tenderness in the peripheral joints, lower back and entheseal regions” in anamnesis domain and “tenderness in the peripheral joints, entheseal areas, and hip examination”; “swelling in the peripheral joints; tenderness on sacroiliac compression testing”; and “no reduction in hip RoM examination” in physical examination domain received the highest scores and were accepted as strong consensus. Furthermore, normalization of MRI findings of SIJ and hip/peripheral joint and “physician global score = 0” reached the specified thresholds, resulting in strong consensus following the second round. Conclusions: This Delphi study highlights the need for a multidimensional approach that integrates clinical, radiological, and physician assessments to define disease inactivity in patients with JSpA. The resulting consensus provides a more specific assessment on inactivity defining JSpA patients and reflects a national consensus.

Objectives The aim of this study was to describe the cutaneous manifestations of patients with autoinflammatory bone diseases and to evaluate the relationship between cutaneous manifestations, bone involvement, and systemic inflammation in Turkish children. Methods This retrospective multicenter study was conducted in nine pediatric rheumatology centers between the years 2013 and 2023 in patients with a diagnosis of autoinflammatory bone disease with cutaneous manifestations. Demographic data, laboratory findings, cutaneous manifestations, bone involvement, and treatments were recorded. Results Two hundred and sixty-nine autoinflammatory bone disease patients were evaluated. Fifty-one patients with cutaneous manifestations (46 CRMO and five Majeed syndrome) were included in this study. The mean diagnostic delay was 16.1 ± 11.7 months in those with cutaneous manifestations and 25.3 ± 9.9 months in those with bone involvement (p = 0.02). The most common skin lesions were acne (n = 26), pustules (n = 23), and papules (n = 10). Patients with acne had more frequent male sex and higher ESR and CRP levels (p = 0.01, p = 0.03, and p = 0.04, respectively). Patients with pustules had a younger age at symptom onset and age at diagnosis and higher ESR and CRP levels (p = 0.04, p = 0.04, p = 0.04, p = 0.02, p = 0.03, respectively). In patients with CRMO, the mean time to remission was 2.1 ± 0.7 years for cutaneous manifestation and 2.9 ± 1.4 years for bone involvement (p = 0.04). Conclusion Skin lesions may appear before bone lesions in autoinflammatory bone diseases, serving as an important early warning sign for diagnosis. Lesions such as acne and pustules are more common in these conditions and may contribute to the severity of inflammation in autoinflammatory bone diseases. Key Points • Skin lesions, most commonly acne and pustules, are frequently observed in autoinflammatory bone diseases. • It would be appropriate to closely monitor skin involvement to manage the disease and inflammation.

Objective: Juvenile idiopathic arthritis (JIA) is the most common chronic childhood arthritis, with distinct categories based on pathophysiology and clinical manifestations. The age of onset varies by category but is reported to be approximately six years. This study aimed to evaluate the clinical, laboratory and outcome characteristics of patients with infantile-onset JIA. Methods: This multicentre retrospective study included patients with JIA whose symptoms were onset before the age of two. Results: This study included 199 patients with a median age at symptom onset of 17 months and a median age at diagnosis of 20 months. The most common JIA categories were persistent oligoarticular (59.8%), systemic (13.6%) and rheumatoid factor (RF)-negative polyarticular (11.6%). Patients with symptom onset ≤12 months had a significantly higher prevalence of RF-negative polyarticular and systemic JIA, whereas those with onset >12 months had a higher prevalence of persistent oligoarticular JIA. Antinuclear antibody positivity was significantly higher in patients with disease onset >12 months, whereas uveitis development was more common in those with onset ≤12 months. The wrist, hand proximal interphalangeal (PIP) and foot PIP joints were significantly more frequently affected in patients with early-onset disease. At the last visit, 59.8% of the patients were in remission with medication and 18.1% were in remission without medication. Conclusion: This study suggests that patients with infantile-onset JIA exhibit distinct characteristics regarding JIA category, joint involvement and uveitis development, highlighting the need for further research and potential reconsideration of current age thresholds in the JIA classification.