Leprosy is a chronic granulomatous disease caused by Mycobacterium leprae. We describe the case of a 20-year-old man from India living in Italy since 2003, who presented with erythematous papules and nodules distributed on his arms, legs, and face in 2006. He also had episodes of high fever, polyarthritis, and episcleritis. Sarcoidosis was suspected on the basis of elevated angiotensin-converting enzyme and bronchoalveolar lavage fluid, and the patient was treated with corticosteroids for about a year. A flare of the disease occurred each time corticosteroid was tapered or suspended. An autoinflammatory disease was then suspected and treated with immunosuppressant. Only the third deep skin biopsy revealed the presence of M. leprae. The lack of clinical suspicion and the unfamiliarity with the histology of leprosy delayed diagnosis and treatment. Leprosy should be considered in the differential diagnoses of patients presenting with rheumatic and cutaneous manifestations especially when they come from countries where the disease is endemic.
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http://dx.doi.org/10.1097/RHU.0b013e31823a55e5 | DOI Listing |
Pediatr Rheumatol Online J
January 2025
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, Fukuoka, 812-8582, Japan.
Background: Chronic nonbacterial osteomyelitis (CNO) is a rare autoinflammatory disease of unknown cause, predominantly affecting teens and young adults. The early diagnosis and management are challenging due to the lack of reliable diagnostic markers and the occasional intractable cases despite conventional anti-inflammatory treatments. Janus kinase (JAK) inhibitors have recently shown potential utility; however, reports on their use for pediatric patients with CNO remain limited, and no established biomarkers exist to monitor disease activity.
View Article and Find Full Text PDFOcul Immunol Inflamm
January 2025
Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Background: Posterior scleritis (PS) is a rare phenotype of scleritis. Comprehensive epidemiological studies on PS in children are limited. We aimed to report on its clinical and imaging features in one of the largest pediatric series to date.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
Institute of Endocrinology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Background: Childhood autoimmune disorders involve the immune system attacking its own tissues, leading to varied symptoms, while autoinflammatory disorders result from innate immune system dysregulation, both requiring extensive diagnosis and multidisciplinary management due to their complexity.
Case Presentation: We present a unique clinical case of a teenager with a combination of autoimmune and autoinflammatory disorders. The initial manifestation of hip pain, coupled with progressive symptoms over several years and findings in multiple magnetic resonance imaging (MRI) scans, culminated in the diagnosis of chronic recurrent multifocal osteomyelitis (CRMO).
Front Pediatr
January 2025
Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, Germany.
Suppressors of cytokine signaling (SOCS) proteins play a critical role in regulating immune signaling pathways. Deficiency of SOCS1 leads to various autoimmune pathologies. We present two unrelated patients with distinct clinical manifestations.
View Article and Find Full Text PDFCureus
December 2024
Department of Obstetrics and Gynecology, Shiga University of Medical Science, Ostu, JPN.
Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by periodic fever, serositis, and arthritis. In women, FMF attacks can sometimes be triggered by the menstrual cycle. Once diagnosed, prophylactic treatment with colchicine is generally recommended.
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