Schnitzler's Syndrome

Waele, S De; Lecouvet, Frédéric; Jamar, François; Lambert, Michel

doi:10.2214/ajr.175.5.1751325

Cited by 23 publications

(6 citation statements)

References 2 publications

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“…Femur, spine, forearm and clavicle were less often involved [24]. Bone involvement is common, and 30 to 40% of the patients showed bone lesions on imaging studies [25]. Osteocondensation is the most frequent radiological finding and the most common radiological pattern is a sclerotic bone marrow involvement with cortical hyperostosis of distal femora and proximal tibiae, and a lack of suggestive signs of malignancy.…”

Section: Introductionmentioning

confidence: 99%

The Schnitzler syndrome

Lipsker

2010

Orphanet J Rare Dis

156

168

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The Schnitzler syndrome is a rare and underdiagnosed entity which is considered today as being a paradigm of an acquired/late onset auto-inflammatory disease. It associates a chronic urticarial skin rash, corresponding from the clinico-pathological viewpoint to a neutrophilic urticarial dermatosis, a monoclonal IgM component and at least 2 of the following signs: fever, joint and/or bone pain, enlarged lymph nodes, spleen and/or liver, increased ESR, increased neutrophil count, abnormal bone imaging findings. It is a chronic disease with only one known case of spontaneous remission. Except of the severe alteration of quality of life related mainly to the rash, fever and pain, complications include severe inflammatory anemia and AA amyloidosis. About 20% of patients will develop a lymphoproliferative disorder, mainly Waldenström disease and lymphoma, a percentage close to other patients with IgM MGUS. It was exceedingly difficult to treat patients with this syndrome until the IL-1 receptor antagonist anakinra became available. Anakinra allows a complete control of all signs within hours after the first injection, but patients need continuous treatment with daily injections.In many aspects, the Schnitzler syndrome resembles the genetically determined auto-inflammatory syndromes involving activating mutations of the NLRP3 inflammasome. This latter point and its consequences will be addressed.

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Section: Introductionmentioning

confidence: 99%

The Schnitzler syndrome

Lipsker

2010

Orphanet J Rare Dis

156

168

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“…Furthermore, Schnitzler's syndrome radiographs show a slight, linear periostal enlargement of the distal femurs and proximal tibias [10], whereas, in CRMO there is characteristical nonperiosteal elevation or sequestra formation [5]. Magnetic resonance imaging of Schnitzler's disease and active CRMO disease are both described by poorly delimitated bone marrow infiltration with low signal on T1W images and high signal intensity on T2W sequences [11, 12]. The CT imaging in Schnitzler's patients shows enlarged lymph nodes and hepatosplenomegaly, both of which are not typical for CRMO patients.…”

Section: Discussionmentioning

confidence: 99%

Schnitzler's Disease as an Important Differential Diagnosis of Chronic Recurrent Multifocal Osteomyelitis: A Case Report

Schrödl¹,

Nigg²,

Treitl³

et al. 2012

Case Reports in Rheumatology

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Introduction. At first sight, chronic recurrent multifocal osteomyelitis (CRMO) and Schnitzler's disease are diagnoses of exclusion and can be similar in their manifestation. Methods. In this paper we present the reevaluation of the 13-year-old diagnosis of chronic recurrent osteomyelitis of a 58-year-old man with chronic ostealgia, night sweat, and pruritic urticarial lesions on the extremities and trunk. For further examination, we performed blood analysis, bone and skin biopsies, CT scans, and magnetic resonance imaging. Results. Laboratory findings showed increased inflammation parameters. Magnetic resonance imaging (MRI) revealed a diffuse bone marrow infiltration. A bone and skin biopsy showed a sclerotic bone marrow involvement and a superficial dermal and perivascular infiltrate of neutrophils. Based on these findings, the diagnosis of Schnitzler's disease was made. Conclusion. Here, we want to present Schnitzler's disease as an important differential diagnosis to CRMO in adults presenting with signs suggestive of CRMO.

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“…[5] Bone pain can involve the femurs, tibias, and forearms in the extremities; and the pelvis, clavicles, and spine. [19] In a retrospective analysis of bone imaging studies including plain X-ray, MRI, isotope bone scan, and positron emission tomography (PET)/computed tomography (CT) in 22 patients with classical Schnitzler syndrome, 64% of patients displayed skeletal imaging findings involving 40 bone regions. These include osteosclerosis on plain X-ray which is found in the distal femur, proximal tibia, and iliac bones.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…In addition to the two essential features, chronic urticarial skin rash [Figure 1] and monoclonal gammopathy, bone pain (or referred to as bone remodeling) has been a distinctive feature that is present in 55% of Schnitzler syndrome patients [5] . Bone pain can involve the femurs, tibias, and forearms in the extremities; and the pelvis, clavicles, and spine [19] . In a retrospective analysis of bone imaging studies including plain X-ray, MRI, isotope bone scan, and positron emission tomography (PET)/computed tomography (CT) in 22 patients with classical Schnitzler syndrome, 64% of patients displayed skeletal imaging findings involving 40 bone regions.…”

Section: Classical Schnitzler Syndromementioning

confidence: 99%

Schnitzler syndrome and Schnitzler-like syndromes

Chu

2022

Chinese Medical Journal

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Schnitzler syndrome is a rare disease of adult-onset with main features including chronic urticarial rash, recurrent fever, arthralgia or arthritis, monoclonal gammopathy of undetermined significance (MGUS), and marked systemic inflammation. Schnitzler syndrome is often underdiagnosed. Patients with Schnitzler syndrome may present to dermatologists and allergists for urticaria, hematologists for MGUS, or rheumatologists for arthritis. It is important to recognize Schnitzler syndrome for its remarkable response to interleukin (IL)-1 blockade. Besides, many cases of Schnitzler-like syndromes do not meet the diagnostic criteria of classical Schnitzler syndrome but display excellent response to IL-1 inhibitors. The overly produced IL-1 is the result of a somatic mosaic gain of function mutation of NLRP3 (nucleotide-binding oligomerization domain [NOD]-like receptor [NLR] family pyrin domain containing 3) gene in some patients with Schnitzler-like syndromes. Inflammasome activation is evident in patients with classical Schnitzler syndrome although no NLRP3 gene mutation is identified. Collectively, Schnitzler syndrome and Schnitzler-like syndromes represent a spectrum of IL-1 mediated adult-onset autoinflammatory diseases.

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Schnitzler's Syndrome

Cited by 23 publications

References 2 publications

The Schnitzler syndrome

The Schnitzler syndrome

Schnitzler's Disease as an Important Differential Diagnosis of Chronic Recurrent Multifocal Osteomyelitis: A Case Report

Schnitzler syndrome and Schnitzler-like syndromes

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