Unlabelled: Schnitzler's syndrome is a rare disease characterized by a monoclonal IgM (or IgG) paraprotein, a nonpruritic urticarial skin rash, and 2 (or 3) of the following: recurrent fever, objective signs of abnormal bone remodeling, elevated CRP level or leukocytosis, and a neutrophilic infiltrate on skin biopsy. It responds well to treatment with the interleukine-1-inhibitor anakinra. We report the bone scintigraphy and MRI findings in a 45 years old man with this syndrome and compare them with data from the literature.
Conclusion: None of the imaging findings are specific, but they lead to a differential diagnosis including infiltrative diseases (e.g. systemic mastocytosis or Erdheim-Chester disease) and dysplastic diseases (e.g. melorheostosis, Camurati-Engelmann disease or van Buchem disease). The bone scintigraphy pattern may be very suggestive of the correct diagnosis and of bone involvement in this syndrome.
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Int J Mol Sci
January 2025
Immunology Division, Department of Internal Medicine and Hematology, Semmelweis University, 1088 Budapest, Hungary.
Schnitzler syndrome is a unique autoinflammatory disease, of which 747 cases have been described worldwide to date. The main features of the syndrome are a triad of recurrent urticaria, monoclonal IgM gammopathy, systemic inflammation associated with recurrent fever, joint and bone pain, and atypical bone remodeling (osteosclerosis). The abnormal activation of the NLRP3 inflammasome produces IL-1, which drives the disease pathology, but it also involves IL-6 and IL-18.
View Article and Find Full Text PDFNeurobiol Dis
February 2025
Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich Heine University, 40225 Düsseldorf, Germany. Electronic address:
Corticobasal syndrome (CBS) is characterized not only by parkinsonism but also by higher-order cortical dysfunctions, such as apraxia. However, the electrophysiological mechanisms underlying these symptoms remain poorly understood. To explore the pathophysiology of CBS, we recorded magnetoencephalographic (MEG) data from 17 CBS patients and 20 age-matched controls during an observe-to-imitate task.
View Article and Find Full Text PDFAllergol Int
December 2024
Department of Dermatology, Hyogo Medical University Graduate School of Medicine, Nishinomiya, Japan.
Front Hum Neurosci
November 2024
Department of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Clin Exp Dermatol
December 2024
Department of Dermatology, Venereology and Leprology; Postgraduate Institute of Medical Education and Research; Chandigarh, India.
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