The Schnitzler syndrome
| العنوان: | The Schnitzler syndrome |
|---|---|
| المؤلفون: | Dan Lipsker |
| المساهمون: | BMC, Ed., Biologie des Cellules Dendritiques Humaines, EFS-Cancéropôle du Grand Est-Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de dermatologie [Strasbourg], CHU Strasbourg, D. Lipsker has received a grant from the Société Française de Dermatologie to study the inflammatory pathways involved in the Schnitzler syndrome. |
| المصدر: | Orphanet Journal of Rare Diseases, Vol 5, Iss 1, p 38 (2010) Orphanet Journal of Rare Diseases Orphanet Journal of Rare Diseases, BioMed Central, 2010, 5 (1), pp.38. ⟨10.1186/1750-1172-5-38⟩ |
| بيانات النشر: | BMC, 2010. |
| سنة النشر: | 2010 |
| مصطلحات موضوعية: | MESH: Antirheumatic Agents, MESH: Exanthema, lcsh:Medicine, Spontaneous remission, [SDV.GEN] Life Sciences [q-bio]/Genetics, Review, MESH: Lymphoproliferative Disorders, AA amyloidosis, Genetics(clinical), Pharmacology (medical), Schnitzler Syndrome, Genetics (clinical), Skin, Medicine(all), MESH: Middle Aged, MESH: Genetic Predisposition to Disease, MESH: Schnitzler Syndrome, General Medicine, Middle Aged, Rash, MESH: Interleukin 1 Receptor Antagonist Protein, Schnitzler syndrome, Antirheumatic Agents, Female, medicine.symptom, medicine.drug, Adult, medicine.medical_specialty, Adolescent, MESH: Carrier Proteins, MESH: Skin, NLR Family, Pyrin Domain-Containing 3 Protein, medicine, Humans, Genetic Predisposition to Disease, Urticarial vasculitis, Bone pain, POEMS syndrome, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, Anakinra, MESH: Humans, business.industry, lcsh:R, MESH: Adult, Exanthema, medicine.disease, Dermatology, Lymphoproliferative Disorders, Interleukin 1 Receptor Antagonist Protein, Immunology, business, Carrier Proteins, MESH: Female |
| الوصف: | 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. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1750-1172 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ff5ecbc0b5d5eca2266e9d78c458a6eTest http://www.ojrd.com/content/5/1/38Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....6ff5ecbc0b5d5eca2266e9d78c458a6e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17501172 |
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