Thymic carcinoma presenting with overlap polyarthritis and myositis: A rare paraneoplastic syndrome in childhood.

Thymic tumors are very rare neoplasms in children and account for less than 1% of mediastinal tumors in pediatric patients. One-third of the pediatric patients present with symptoms related to the compression of the tumor mass on the surrounding anatomic structures, and paraneoplastic syndromes such as myasthenia gravis, pure red cell aplasia, acquired hypogammaglobulinemia, and connective tissue disorders, which rarely occur in children with thymic tumors. Herein, we report a case of thymic carcinoma mimicking the symptoms of a connective tissue disease with symmetrical polyarthritis accompanying myositis, fever, weight loss, and malaise in a 15-year-old male patient. To our knowledge, this is the first case pediatric thymic carcinoma accompany with severe polyarthritis and myopathy, thus we have reviewed the current literature regarding the cases of thymic malignancies coexisting with paraneoplastic syndromes in children.

Mimickers of Immune Checkpoint Inhibitor-induced Inflammatory Arthritis.

The differential diagnosis of inflammatory arthritis as an immune-related adverse event can be challenging as patients with cancer can present with musculoskeletal symptoms that can mimic arthritis because of localized or generalized joint pain. In addition, immune checkpoint inhibitors can exacerbate joint conditions such as crystal-induced arthritis or osteoarthritis, or induce systemic disease that can affect the joints such as sarcoidosis. This distinction is important as the treatment of these conditions can be different from that of immune-related inflammatory arthritis.

Blau Syndrome With Delayed Cutaneous Manifestations: A Case Report.

ABSTRACT: Blau syndrome is a rare familial autoinflammatory disorder characterized by the triad of granulomatous dermatitis, polyarthritis, and uveitis. Blau syndrome exhibits an autosomal dominant inheritance pattern and can be caused by a gain-of-function mutation in nucleotide-binding oligomerization domain 2 (NOD2), a member of the NOD-like receptor family of pattern recognition receptors. Mutations in NOD2 cause upregulation of inflammatory cytokines and resultant autoinflammation. Because of the rarity of this condition and early onset of symptoms, Blau syndrome may be misdiagnosed as juvenile idiopathic arthritis. We present a case of a 37-year-old male patient with a long-documented history of juvenile idiopathic arthritis and uveitis, who developed an asymptomatic eruption of pink papules on the trunk and upper extremities. A biopsy demonstrated noncaseating, well-formed dermal granulomas with relatively sparse lymphocytic inflammation and Langerhans-type giant cells. Genetic testing confirmed a mutation in NOD2. Based on the patient's clinical history, histologic findings, genetic testing, the diagnosis of Blau syndrome was made.

Synovial Lipomatosis With Extra-articular Extension in the Arthritic Wrist: An Unexpected Diagnosis.

ABSTRACT: Synovial lipomatosis is a rare condition characterized by adipocyte proliferation within joint synovial tissue. It most commonly affects the knee and is typically intra-articular. Only 5 published case reports describe extra-articular synovial lipomatosis of the wrist. We present a case of a sexagenarian patient seen for his wrist arthropathy. His x-ray revealed pan-wrist arthritis and inflammatory soft tissue swelling. The patient was slated for a wrist fusion and Darrach procedure. Following the dorsal skin incision in the operating room, an unusual adipose mass was identified infiltrating all extensor compartments: midcarpal, radiocarpal, and distal radioulnar joints. The mass was excised and sent to pathology prior to proceeding with the slated surgery. Synovial lipomatosis was diagnosed postoperatively based on histopathology. Six weeks postoperatively, the wrist fusion had healed clinically and radiographically, and his pain had improved. There was no evidence of recurrence. Synovial lipomatosis is a rare entity that may imitate multiple other pathologies. It is possible that synovial lipomatosis may represent a secondary occurrence following degenerative articular disease or trauma in older patients. This is the first case report to date describing synovial lipomatosis of the wrist with extra-articular extension in the setting of pan-carpal wrist arthritis.

A 40-Year-Old Man with a 7-Year History of Polyarthritis and a Late Diagnosis of Whipple Disease: A Journey to Resolve the Mystery.

BACKGROUND Whipple disease (WD) is rare, with an incidence of only a few patients per million. It is caused by infection with the gram-positive bacterium Tropheryma whipplei, and presents with symptoms that include joint pain, fever, diarrhea, and weight loss. This report is of a 40-year-old man with a 7-year history of polyarthritis and a late diagnosis of Whipple disease. The atypical nature of his symptoms led to misdirection and misdiagnosis for years. CASE REPORT A middle-aged white man with seronegative migratory polyarticular arthritis underwent 7 years of treatment with steroids, disease-modifying anti-rheumatic drugs (DMARDs), and a TNF (tumor necrosis factor)-alpha inhibitor, all without any clinical improvement. Throughout this period, he had persistent loose stools and iron-deficiency anemia. Extensive diagnostic investigations for various possibilities yielded negative results. However, after 7 years, he began displaying clinical signs of malabsorption. This prompted further evaluation, including an upper-gastrointestinal endoscopy and biopsy, which revealed the presence of PAS (periodic acid-Schiff)-positive Treponema whipplei, which led to the diagnosis of WD. Following initiation of appropriate treatment, the patient experienced complete resolution of symptoms. Retrospectively, all the pieces of this puzzle fell into place, providing a comprehensive understanding of the prolonged medical challenge the patient faced. CONCLUSIONS This case illuminates the diagnostic challenge faced when dealing with migratory polyarticular inflammatory arthritis and fever. This report has highlighted that Whipple disease can be associated with multiple symptoms and signs, which can result in a delay in diagnosis. However, once the diagnosis is confirmed, antibiotic treatment is effective.

Outcomes of rhegmatogenous retinal detachment surgery in patients with Stickler syndrome.

PURPOSE: Despite recent developments in vitrectomy technology and instrumentation, rhegmatogenous retinal detachment in Stickler syndrome (RDS) remains a challenge for surgeons. RDSs are associated with a higher rate of complications and surgical failures than those not associated with Stickler syndrome. This study is a report about anatomic and visual outcomes of RDS surgery and describes the surgical techniques associated with the treatment of this specific condition. METHODS: This is a retrospective, interventional, consecutive case series of patients with RDS undergoing retinal reattachment surgery from 1990 to 2020 at the Institute of Ocular Microsurgery (IMO) in Barcelona, Spain. RESULTS: Twenty-four eyes of 18 patients with genetically confirmed Stickler syndrome were included in the study. Ten eyes (41.6%) presented a giant retinal tear. Retinal reattachment was achieved in all cases after an average of 1.21 (range 1-6) surgical interventions. Nineteen eyes (79%) required only one operation to achieve complete retinal reattachment. The most common first surgical procedure was a 4-mm scleral buckle with posterior pars plana vitrectomy and silicone oil endotamponade, performed on 16 (66.6%) of the eyes. The mean follow-up period was 10.2 years. Mean preoperative visual acuity LogMar was 1.10 (Snellen equivalent 20/252), which improved to 0.50 (Snellen equivalent 20/63) at final follow-up (p < 0.05). CONCLUSION: In most RDS cases, anatomic success and visual acuity improvement can be achieved with the first surgical procedure, using a combination of silicone oil tamponade and a 4-mm scleral encircling band. In some early cases of RDS, other less invasive surgical techniques can be used.

Case Report: Methotrexate and hydroxychloroquine in combination for the treatment of NOD2-mutation-associated Blau syndrome.

Mutations in nucleotide binding oligomerization domain containing 2 receptor (NOD2) are associated with Blau syndrome (also known as early-onset sarcoidosis)-a rare autosomal dominant, chronic granulomatous disease that typically presents before 5 years of age. Blau syndrome is characterized by the clinical triad of arthritis, granulomatous dermatitis, and recurrent uveitis. Here, we report a case of NOD2-mutation-associated early-onset sarcoidosis in which a combination of methotrexate and hydroxychloroquine was used to achieve improvement in arthritis, granulomatous dermatitis, and uveitis. A 13-month-old boy presented with a sudden-onset cutaneous eruption affecting the face, trunk, and extremities that initially mimicked papular atopic dermatitis but progressively worsened despite topical steroid therapy. The patient had no other known medical comorbidities or abnormalities except for heterochromia of the right eye. However, prior to presentation to dermatology, the patient began experiencing frequent falls, conjunctival injection, and apparent eye and joint pain. Skin biopsy from the right shoulder demonstrated rounded aggregates of epithelioid histiocytes and multinucleated giant cells without a significant lymphocytic component ("naked granulomas"), consistent with sarcoidal granulomatous dermatitis. Given the concern for Blau syndrome, the patient was sent for evaluation by ophthalmology and was found to have bilateral subconjunctival nodules. Our patient underwent genetic testing and was found to have a mutation in codon 1000 C > T (protein R334W) in the NOD2 gene. The patient responded to oral prednisolone 2 mg/kg/day for 8 weeks, but quickly relapsed, requiring a second 8-week course with taper upon starting methotrexate 7.5 mg subcutaneously weekly with 1 mg folic acid orally daily. After 8 weeks on methotrexate, due to persistent arthritis, conjunctival injection, and pruritus, and in consultation with rheumatology, the patient was started on hydroxychloroquine 75 mg orally daily along with continuation of 7.5 mg methotrexate subcutaneously weekly for 8 weeks, achieving significant reduction in arthritis, pruritus, and uveitis. After 8 weeks of this combination therapy, due to concerns of long-term macular toxicity, hydroxychloroquine was discontinued in favor of continuing methotrexate alone. The patient has remained free of significant side effects and stable with good disease control on 7.5 mg methotrexate weekly injected subcutaneously.

A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia.

BACKGROUND: Ataxia-telangiectasia (A-T) is a rare autosomal recessive DNA repair disorder, characterized by progressive cerebellar degeneration, telangiectasia, immunodeficiency, recurrent sinopulmonary infections, radiation sensitivity, premature aging and predisposition to cancer. Although the association with autoimmune and chronic inflammatory conditions such as vitiligo, thrombocytopenia and arthritis has occasionally been reported, an onset with articular involvement at presentation is rare. CASE PRESENTATION: We herein report the case of a 7-year-old Caucasian girl who was admitted to the Rheumatology Department with a history of febrile chough and polyarthritis which led initially to the suspicion of an autoinflammatory disease. She had overt polyarthritis with knees deformities and presented with severe pneumonia. A chest Computed Tomography (CT) scan showed bilateral bronchiectasis, parenchymal consolidation and interstitial lung disease; rheumatoid factor and type I interferon signature resulted negative, therefore excluding COatomer Protein subunit Alpha (COPA) syndrome. A diagnosis of sarcoidosis had been suspected based on histological evidence of granulomatous liver inflammation, but ruled out after detecting normal angiotensin converting enzyme and chitotriosidase blood levels. Based on her past medical history characterized by at least six episodes of pneumonia in the previous 4 years, immunological phenotyping was performed. This showed complete IgA and IgE deficiency with defective antigen-specific antibodies to Pneumococcal, Tetanus toxin and Hemophilus Influenzae B vaccines. Additionally, low numbers of B cells and recent thymic emigrants (RTE) were found (CD4Ra 1.4%), along with a low CD4+/CD8 + T cells ratio (< 1). Finally, based on gait disturbances (wobbly wide-based walking), serum alfa-fetoprotein was dosed, which resulted increased at 276 ng/ml (normal value < 7 ng/ml). A diagnosis of Ataxia-Telangiectasia was made, strengthened by the presence of bulbar telangiectasia, and then confirmed by Whole Exome Sequencing (WES). CONCLUSIONS: Although rare, A-T should always be ruled out in case of pulmonary bronchiectasis and gait disturbances even in the absence of bulbar or skin telangiectasia. Autoimmune and granulomatous disorders must to be considered as differential diagnosis.

Disseminated Mycobacterium abscessus infection with osteoarticular manifestations as an important differential diagnosis of inflammatory arthritis: A case report and literature review.

This case report describes a 52-year-old immunocompromised man diagnosed with disseminated Mycobacterium abscessus complex (MABC) infection. The patient had a history of malignant lymphoma and presented with fever and polyarthritis that lasted 3 weeks. Upon initial evaluation, blood and synovial fluid cultures from the swollen joints were negative. Reactive arthritis or rheumatoid arthritis was suspected as the cause of inflammatory synovitis in multiple joints. Administration of prednisolone followed by an interleukin-6 inhibitor improved the fever, but polyarthritis persisted, and destruction of the left hip joint was observed. Two months later, M. abscessus was detected in a blood culture and right shoulder joint synovium, leading to a final diagnosis of disseminated MABC infection. The joint symptoms resolved with combined antimicrobial therapy using amikacin, azithromycin, and imipenem/cilastatin. To date, 12 cases of disseminated MABC infection with osteoarticular manifestations have been reported. A total of 13 cases, including the present case, were reviewed. Seven patients had bone involvements, five had joint involvement, and the remaining one had bursa involvement. All the cases with joint involvement, except for our case, presented with monoarthritis. MABC infection is diagnosed based on the demonstration of MABC itself. Clinicians should keep disseminated MABC infection in mind as a possible cause of persistent arthritis. As demonstrated in our case, multiple replicate cultures of blood or specimens from the affected sites may be needed to detect it.

Pancreatitis, panniculitis and polyarthritis (PPP) syndrome.

A young male presented with intermittent high-grade fever, asymmetric polyarthritis and erythematous, tender nodules over left shin for 2 months duration. He had a history of alcohol dependence with multiple episodes of acute pancreatitis. With polyarthritis progressing relentlessly, unresponsive to non-steroidal anti-inflammatory drugs and steroids, a provisional diagnosis of sarcoidosis was considered. Indeed, he was treated with azathioprine and rituximab with no effect. Biopsy of the skin nodule revealed subcutaneous fat necrosis, foam cells, deposition of eosinophilic amorphous material and calcification. Synovial fluid aspiration from the arthritic knee obtained purulent but surprisingly culture-negative material, rich in triglycerides. Abdominal CT confirmed chronic pancreatitis. Final diagnosis of pancreatitis, panniculitis and polyarthritis (PPP) syndrome was made. He underwent surgical pancreatic ductal drainage leading to complete remission of symptoms. PPP syndrome triad occurs due to leakage of pancreatic enzymes into systemic circulation and subsequent fat necrosis. Surgical drainage of pancreatic duct is often curative.

Association between arthritis and hand grip strength indices combined with anthropometry in an older Korean population.

BACKGROUND: Hand grip strength (HGS) is related to arthritis and all-cause mortality. Many studies have examined the association between HGS and arthritis, but these studies did not consider relative HGS indices. The objectives of this study were to examine the association between arthritis and HGS indices in an older Korean population and to compare an absolute HGS index and a relative HGS indices. METHODS: In a large-scale cross-sectional study, a total of 16,860 subjects older than 50 years from the Korea National Health and Nutrition Survey from 2014 to 2019 were included for statistical analysis. A binary logistic regression model was used to examine the association between arthritis and HGS indices in crude and covariate-adjusted models. RESULTS: In the crude analysis, all anthropometric and HGS indices were associated with arthritis except for weight in men. In adjusted models 1 and 2, among the anthropometric indices, waist circumference (WC) and waist-to-height ratio (WHtR) were associated with arthritis in men but not in women. Absolute HGS and all relative HGS indices showed a negative association with arthritis among both men and women, and the magnitude of the association of arthritis with the absolute HGS index and the relative HGS indices was similar. However, the magnitude of the association between all HGS indices and arthritis was higher for men than for women except in the crude analysis. DISCUSSION: Absolute and relative HGS indices had negative associations with arthritis, and the magnitude of the association between the absolute HGS index and arthritis and between the relative HGS indices and arthritis was similar in all models. To our knowledge, this is the first report of an association between arthritis and relative HGS indices, which was not observed in previous studies.

Multicentric Reticulohistiocytosis (Mrh): A Case Report On A Rare Destructive Arthritis.

Multicentric Reticulohistiocytosis is a rare disorder of unknown aetiology which affects skin and joints predominantly. There are no specific laboratory investigations for diagnosis. Diagnosis can be made clinically and on a histopathological basis. There is no consensus on treatment. We report a case from Pakistan with classical presentation who did well on methotrexate and low dose steroids. Prompt diagnosis and early treatment may save from significant disability.

Blau syndrome with persistent fetal vasculature: a case report.

BACKGROUND: Blau Syndrome (BS) is a rare autosomal dominant noncaseous granulomatous disease caused by mutations in the NOD2 gene. The disease is characterized by granulomatous dermatitis, symmetrical arthritis, and uveitis, which, if left untreated, can progress to blindness. The diagnosis of BS can be challenging because of its rarity and overlap with other rheumatologic disorders. Early detection of ocular involvement is critical to prevent vision loss and improve the prognosis of patients with BS. CASE PRESENTATION: In this report, we present a case of a five-year-old Chinese girl diagnosed with BS one year ago after presenting with a systemic rash and urinary calculi. Genetic testing was recommended by a physician, and a heterozygous mutation of the NOD2 gene c.1538T > C (p.M513T) was identified. Eight months ago, due to bilateral corneal punctate opacity, we had examined and diagnosed bilateral uveitis, bilateral corneal zonal degeneration, persistent fetal vasculature (PFV) in the right eye, and perivascular granuloma in the right eye. As a result, Vitrectomy was performed on the right eye, resulting in a significant improvement in visual acuity from 1/50 on the first day after surgery to 3/10 after 1 week. After 6 months, the visual acuity of the right eye was maintained at 3/20, but opacification of the lens posterior capsule was observed. Follow-up appointments are ongoing to monitor the condition of the affected eyes. Our report underscores the importance of prompt detection and management of ocular involvement in BS accompany with PFV to prevent vision loss and improve patient outcomes. CONCLUSIONS: This report details the case of a child diagnosed with BS who accompanied a periretinal granuloma and PFV in the right eye. Regrettably, the left eye was observed to have no light perception (NLP) with the fundus not being visible. The occurrence of ocular complications in patients with BS, must be closely monitored to prevent vision loss and enhance treatment outcomes. This case underscores the importance of prompt diagnosis and management of ocular complications in patients with BS to prevent further damage and optimize patient outcomes.

Reddish-brown, papulonodular skin lesions in the periungual region.

Multicentric reticulohistiocytosis is a rare, non-Langerhans cell histiocytosis that most commonly presents in women in their fourth or fifth decades of life. Cutaneous involvement, characterized by reddish-brown papules in a "string of pearls" or "coral bead" linear formation, and joint involvement are the two most common manifestations at presentation. Histopathology demonstrates dermal proliferation of epithelioid histiocytic-appearing cells with ground glass cytoplasm. We report a 51-year-old woman who presented with ruddy, periungual papules and bilateral joint pain in the hands, consistent with multicentric reticulohistiocytosis. We describe the clinical and histopathologic presentation, therapeutic options, and differential diagnosis of this rare condition.

Multicentric reticulohistiocytosis with eosinophilic gastroenteritis: An unusual relationship.

Multicentric reticulohistiocytosis (MRH) is a rare disease with poorly defined therapeutic strategies. Here, we report the case of a patient with eosinophilic gastroenteritis who developed MRH after 5 years. The patient presented with disabling and rapidly progressive polyarthralgia, eosinophilic gastroenteritis, and resistance to first-line therapies. However, there was a marked improvement in the arthritis symptoms following treatment with tofacitinib. This presentation provides a useful perspective for the therapeutic management of complex scenarios involving MRH.

Recruitment and Retention Strategies for Underrepresented Populations and Adults With Arthritis in Behavioral Interventions: A Scoping Review.

OBJECTIVE: To identify strategies used to recruit and retain underrepresented populations and populations with arthritis or fibromyalgia (FM) into behavioral programs targeting exercise, physical activity, or chronic disease self management. METHODS: Five bibliographic databases were searched for articles published between January 2000 and May 2022. The search focused on strategies and best practices for recruiting and retaining underrepresented populations or populations with arthritis or FM into disease self-management or physical activity/exercise programs. Abstracts and full-text articles were screened for inclusion by 2 independent reviewers, and 2 reviewers extracted data from included articles. RESULTS: Of the 2,800 articles, a total of 43 publications (31 interventions, 8 reviews, 4 qualitative/descriptive studies) met criteria and were included. The majority of studies focused on physical activity/exercise (n = 36) and targeted African American (n = 17), Hispanic (n = 9), or arthritis populations (n = 7). Recruitment strategies that were frequently used included having race- or community-matched team members, flyers and information sessions in areas frequented by the population, targeted emails/mailings, and word of mouth referrals. Retention strategies used included having race- or community-matched team members, incentives, being flexible, and facilitating attendance. Most studies used multiple recruitment and retention strategies. CONCLUSION: This scoping review highlights the importance of a multifaceted recruitment and retention plan for underrepresented populations and populations with arthritis or FM in behavioral intervention programs targeting exercise, physical activity, or chronic disease self management. Additional research is needed to better understand the individual effects of different strategies and the costs associated with the various recruitment/retention methods in underrepresented populations and populations with arthritis.