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Introduction. SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome is a rare autoinflammatory condition describing the constellation of inflammatory skin, bone, and joint manifestations which result in diagnostic difficulty and therapeutic challenge. Case. Here, we present a case of a young male diagnosed with SAPHO syndrome with osteoarticular and cutaneous involvement from an early age in his life. He suffered diagnostic challenges for a long time and was hence inadequately treated. He had minimal response to conventional DMARDs but showed excellent response to TNF inhibitor (adalimumab). Later, he defaulted treatment and presented with acute anterior uveitis which was also dramatically improved with adalimumab and tofacitinib although financial constraint was always an issue for the patient. Conclusion. The uniqueness of this case was that the patient had a multiorgan involvement including osteoarticular system, skin, and eye. Both TNFi (adalimumab) and JAKinib (tofacitinib) had a good response to all organs with a net improvement in the quality of life of this patient.

Introduction IgG4RD overlapping with clinically overt autoimmune diseases (Rheumatoid arthritis ( RA) or anti-phospholipid syndrome (APS) is rarely reported in the literature. Here we report a tale of two cases with known autoimmune diseases – RA and primary APS presented with IgG4-related lesions involving unusual sites – oesophagus and right atrium of the heart respectively Case – The first case was a known RA presented with dysphagia, imaging suggestive of encasing mass in oesophagus causing stricture , biopsy was suggestive of IgG4RD. The second patient was a known case of primary APS presented with breathlessness, imaging revealed right atrial mass with histopathology was suggestive of IgG4RD . Both patients had significant improvement after starting steroid. Discussion – A few cases of known RA presenting with IgG4 mass is reported in literature though RA patients are frequently found to have increased number of IgG4 in their sera. Primary APS with IgG4 lesion is extremely uncommon. Though a several case reports or series are published regarding oesophageal and cardiac IgG4 related lesions, such lesions in the background of known autoimmunity is first described by us . Conclusion – This is the first case series of two cases with IgG4 related lesions in atypical site in known autoimmune diseases .

Blau syndrome ( BS ) , considered a rare pediatric autoinflammatory disease, is characterized by a triad of granulomatous arthritis, dermatitis and uveitis . Here we present a tale of three families evaluated in our outpatient department over the last two years (2020-2022). More than one member of the family was affected with either skin, ophthalmological and joint involvement with either biopsy-proven granuloma or a genetic mutation at NOD2 gene suggesting the diagnosis of BS. The third family had a novel pathogenic mutation in the NOD2 gene with clinical features of BS

Systemic lupus erythematous–associated pulmonary arterial hypertension (SLE-PAH) is one of the important causes of mortality in lupus patients. Different autoantibodies are associated with SLE-PAH which can predict its future development. The objective of the study was to identify distinct autoantibody-based clusters in SLE-PAH patients and to compare demographic characters, clinical phenotypes, and therapeutic strategy across the clusters. Three distinct autoantibody clusters were identified using k-means cluster analysis in 71 SLE-PAH patients. Cluster1 had predominant Sm-RNP, Smith, SS-A association; cluster 2 had no definite autoantibody association; and cluster 3 was associated with nucleosome, histone, dsDNA, and ribosomal P protein. Patients in cluster 3 had a highly active disease while those in cluster 1 had significant cytopenia. Mean age and mean right ventricular systolic pressure (RVSP) were both high in cluster 2, indicating later-onset PAH in this group. This was the first autoantibody-based cluster analysis study in SLE-PAH patients in India which confirmed that autoantibodies did exist as clusters and the presence of definite autoantibodies can predict future development of pulmonary hypertension in these patients.

Introduction: PRES, as a complication of juvenile lupus, is rarely reported in the literature. In this study, six juvenile lupus patients admitted with diagnosis of PRES were assessed on the basis of clinical characteristics, imaging findings, disease activity status, treatment response and prognosis. Methodology: Six juvenile (≤ 16 years) lupus patients with a diagnosis of PRES were included. Demographic, clinical, and laboratory features and outcomes of all six patients were noted. Literature review was performed on PubMed search forum. Search terms in English included Juvenile SLE, Lupus and PRES. Result: The youngest patient was seven years old while the oldest was sixteen years. All patients had history of lupus nephritis , presented with seizure and hypertension. In imaging, four out of six patients had hyperintensities in atypical distribution suggesting atypical PRES. All the patients had significant clinical recovery with resolution of hyperintensities in five out of six patients on repeat imaging. Conclusion: Juvenile lupus with PRES is considered an unusual neurologic manifestation triggered by multiple factors. It can be stipulated that PRES in juvenile lupus cases often remain undiagnosed. Early suspicion and treatment institution with reversal of triggers can result in a favorable outcome in these patients.

Objective Bronchiolitis obliterans organizing pneumonia (BOOP) is a clinico-patho-radiological diagnosis which rarely presents as a pulmonary manifestation of lupus. In this concise report, organizing pneumonia was found as the sole pulmonary manifestation of SLE in different age groups. Method All three patients diagnosed with SLE according to SLICC 2012 classification criteria, were admitted in rheumatology ward of NIMS hospital, Hyderabad, India from May to November, 2018. Their diagnosis of BOOP was either biopsy proven or imaging guided. Review of literature was done with MeSH terms (SLE, BOOP) in PubMed and approximately 10 articles were reviewed including latest of 2019 published in Scientific Reports. Result There were three patients – one juvenile lupus and two adults. Two patients were male and one female. All three patients had SLE with high disease activity. They all had organising pneumonia as pulmonary manifestation with other organ involvement. Juvenile patient had a fatal outcome while the others had a good recovery with steroid and immunosuppressive. Conclusion BOOP is a rare pulmonary manifestation in lupus. It can be diagnosed early with more precision using computerised tomography of lung without waiting for biopsy report. This will result in a better prognosis by rapid initiation of corticosteroid and immunosuppressive treatment.

Background Axial spondyloarthropathy (SpA) is seronegative arthritis which mainly affects young adults and causes much morbidity. Tumor necrosis factor-alpha (TNF-α) is one of the main mediators of inflammation in joints and enthuses in SpA. Nonsteroidal anti-inflammatory drugs (NSAIDs), disease-modifying antirheumatic drugs (DMARDs), and biologics like TNF-α inhibitors are the mainstay of therapy in SpA. However, in India, the cost is one limiting factor in the use of biologics for the treatment of SpA in eligible patients. Thalidomide is an oral TNF-α inhibitor which has reported benefit in axial SpA, and it is a cheap option in the Indian setting. However, there is almost no Indian data on its efficacy. Materials and methods This is a retrospective analysis of patients receiving thalidomide for axial SpA in the rheumatology clinic of a tertiary care hospital of Kolkata. In this clinic, thalidomide was used at 100 mg/day. Patients receiving thalidomide, who had completed at least one year follow up were included in the analysis. Assessment of SpondyloArthritis International Society (ASAS)-20, ASAS-40, and ankylosing spondylitis disease activity score with C-reactive protein (ASDAS-CRP) were measured three monthly during the follow-up. Side effect profile of thalidomide was also recorded. Results The completed data of 66 patients were analyzed. All patients were human leukocyte antigen (HLA) B27 positive. Ninety-five point percent fulfilled ASAS-20 criteria at 12 months and 71.2% fulfilled the ASAS-40 criteria at 12 months. Three patients were nonresponders. The average ASDAS-CRP score also decreased from 2.9 to 1.5 over one year. Conclusion In our study, oral thalidomide resulted in significant improvements in axial SpA. Further randomized controlled trials are needed to find the relative efficacy of thalidomide with respect to other forms of treatment.