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Introduction: Mixed connective tissue disease (MCTD) is a rare entity in children. There is a paucity of studies on juvenile‐onset MCTD (jMCTD) worldwide especially from Southeast Asia. Objectives: To describe clinical and laboratory features of jMCTD diagnosed at pediatric rheumatology centers across India. Methods: A predesigned detailed case proforma in an excel format was prepared and was sent to all the Pediatric Rheumatology centers in India. Eleven centers provided the clinical and laboratory data of their jMCTD patients, which was then compiled and analyzed in detail. Results: Thirty‐one jMCTD patients from 11 centers were included in the study. Our cohort had 27 females and four male patients over 12 months (August 2021 to July 2022). The median age at presentation was 12 years (range 5–18 years) and the median duration of symptoms was 24 months at diagnosis (range 2–96 months). The common features included arthritis (90%), malar rash (70.9%), and Raynaud's phenomenon (70.9%). At a mean follow‐up of 43 months (range 1–168 months), 45% of them were in remission. There were two deaths reported, due to macrophage activation syndrome and sepsis respectively. Conclusion: We present the largest multicenter experience on jMCTD from the Indian subcontinent. The study's findings serve as a crucial stepping stone toward unraveling the complexities of jMCTD and improving patient care and management strategies. [ABSTRACT FROM AUTHOR]

Blau syndrome (BS) is a rare autoinflammatory disorder characterized by the clinical triad of arthritis, uveitis, and dermatitis due to heterozygous gain-of-function mutations in the NOD2 gene. BS can mimic juvenile idiopathic arthritis (JIA)-associated uveitis, rheumatoid arthritis, and ocular tuberculosis. We report a family comprising a mother and her two children, all presenting with uveitis and arthritis. A NOD2 mutation was confirmed in all the three patients - the first such molecularly proven case report of familial BS from India. [ABSTRACT FROM AUTHOR]

Background and Aim: pGALS (pediatric Gait Arms Legs Spine) is a useful screening tool in identifying musculoskeletal problems in children. Although musculoskeletal problems are common in children, only a small fraction of them have an underlying serious pathology. There is limited data on this subject from north India but none from south India. Our aim was to identify the prevalence of musculoskeletal problems in school going boys in the local community. Methods: We conducted a prospective cross-sectional study among school boys 7–17 years of age from September 2017 to July 2019, in Chennai. The parents or the boys were asked pGALS screening questions and this was followed by the extended pGALS examination including Beighton's scoring for hypermobility. If abnormalities in the screening tool were found, the subjects were then referred to a pediatric rheumatologist for further evaluation. Results: A total of 1543 boys were included in this study. Of these 37% of the study group were found to be hypermobile. According to our study, the prevalence of growing pains was 4.6%. Of 2 boys with suspected pathology 1 boy had enthesitis-related arthritis and another had slipped upper femoral epiphysis (SUFE). The estimated prevalence of juvenile idiopathic arthritis (JIA) was 65/100000. According to our study 12.3% of the children were obese. Conclusion: pGALS is a useful tool to screen for musculoskeletal problems in school going boys. The estimated prevalence of JIA was 65/100000. Of them, 37% of the children had hypermobility. Obese children were more likely to complain of musculoskeletal pain (P value 0.00). [ABSTRACT FROM AUTHOR]