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Objective: Systemic lupus erythematosus (SLE) constitutes an autoimmune disorder with potential involvement of the gastrointestinal system (GIS). Our objective was to assess the gastrointestinal (GI) manifestations in patients diagnosed with childhood onset SLE. Methods: The study cohort consisted of 123 patients with childhood onset-SLE and GIS involvement from 16 referral departments of pediatric rheumatology. All participants met the Systemic Lupus International Collaborating Clinics criteria. Results: Out of 123 patients, 78 (63.4%) exhibited GIS involvement at the initial SLE diagnosis, whereas the remaining 45 (36.6%) developed GI symptoms after a median duration of 12 (3–140) months. Eighty-two (66.7%) individuals experienced symptoms related to the GI tract, whereas the remaining patients received a diagnosis of GI involvement through laboratory assessments. The predominant initial GIS involvement symptom was abdominal pain, observed in 77 (62.6%) patients, followed by elevated hepatic transaminases in 70 (56.9%), hepatomegaly in 40 (32.5%), diarrhea in 26 (21.1%), and jaundice in 11 (8.9%) patients. The GIS involvement was associated with SLE in 82 (78.6%), while it resulted from drug-related adverse events in 35 (28.5%) patients or comorbidities in 6 (0.5%) patients. Conclusion: GIS involvement should be considered in all childhood onset-SLE patients, especially in the presence of suggestive symptoms or elevated hepatic transaminases. It is also crucial to consider SLE in the differential diagnosis of GIS manifestations in children. Apart from GIS involvement directly associated with SLE, adverse events of drugs should be kept in mind. [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]

Background: Antinuclear antibody (ANA) is among the most frequently ordered tests in paediatric rheumatology setting. Diseases like systemic lupus erythematosus and Sjögren syndrome is closely related with a positive ANA and classified as ANA associated diseases. Besides, ANA test is ordered in patients with juvenile idiopathic arthritis (JIA) to assess the risk for uveitis and a positive ANA could be detected in children with nonrheumaticrheumatic conditions. In this study, we aimed to investigate frequency of positive ANA in paediatric rheumatology setting and the association of immunofluorescence staining patterns and titres of ANA with rheumatic diseases., Methods: : Immunofluorescence staining patterns, and titres of the ANA and diagnoses of children who tested for ANA between January 2016 and December 2021 were retrospectively analysed., Results: Among 2477 patients with ANA tested, 28.1% had a positive ANA result. Among them, 39.2% had a diagnosis of a rheumatic disease. Most common rheumatic diagnosis was JIA (43.8%) and ANA associated diseases were observed in 24.5% of the patients with a rheumatic diagnosis. While ANA associated diseases had significantly more frequent homogenous staining, dense fine speckled pattern was significantly more common in children with nonrheumatic diagnoses. Despite ANA associated diseases was found to be significantly associated with higher titres, no difference was observed between patients with JIA and nonrheumatic conditions., Discussion: Our study showed that the majority of children with a positive ANA test were not diagnosed with a rheumatic disease. While titres and patterns of ANA were found to be important in diagnosis of rheumatic diseases, ordering ANA test with solid indications might give improved probability of rheumatic diagnoses in children with a positive test.