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Schnitzler Syndrome: A Recherche Entity

Schnitzler syndrome (SS) is a rare disease of unknown etiology. Literature suggests that only around 300 well-diagnosed cases have only been reported worldwide and rarely from India. This syndrome has a slight male predominance with a mean age of onset of around 50 years. It is considered an autoinf...

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Autores principales: Kumar, Rajesh, Behera, Anupama, Seal, Ratul, Patra, Subhabrata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7965238/
https://www.ncbi.nlm.nih.gov/pubmed/33747647
http://dx.doi.org/10.7759/cureus.13338
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author Kumar, Rajesh
Behera, Anupama
Seal, Ratul
Patra, Subhabrata
author_facet Kumar, Rajesh
Behera, Anupama
Seal, Ratul
Patra, Subhabrata
author_sort Kumar, Rajesh
collection PubMed
description Schnitzler syndrome (SS) is a rare disease of unknown etiology. Literature suggests that only around 300 well-diagnosed cases have only been reported worldwide and rarely from India. This syndrome has a slight male predominance with a mean age of onset of around 50 years. It is considered an autoinflammatory disease with presentation mimicking adult-onset Still's disease and systemic lupus erythematosus, and its presentation most commonly includes recurrent fever, urticarial rash, arthralgia, and bone pains. The probable pathogenesis is considered to be cytokine-mediated, mostly interleukin- 1 (IL-1), and its association with the NRLP3 gene has been mentioned in a few reports. Herein, we report a case of a 40-year-old female who presented to us with fever, jaundice, rash, and pedal edema, and detailed investigations revealed leukocytosis with low complements, normal bone marrow with an 'M band' in the immunoglobulin M (IgM) region. Skin biopsy was suggestive of leukocytoclastic vasculitis and renal biopsy was suggestive of membranoproliferative glomerulonephritis (MPGN). All autoimmune and viral markers were negative, including cryoglobulins, and by excluding all possible differentials, the diagnosis of Schnitzler syndrome was confirmed. SS is a disease of exclusion and several autoimmune, hematological infections need to be excluded, hence, this requires extensive workup. It’s the rarest of rare cases, with a variable presentation, specially pyrexia of unknown origin (PUO) with rash, hence this case will open the physician's vision of undiagnosed cases, and further research will help understand its pathogenesis.
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spelling pubmed-79652382021-03-18 Schnitzler Syndrome: A Recherche Entity Kumar, Rajesh Behera, Anupama Seal, Ratul Patra, Subhabrata Cureus Internal Medicine Schnitzler syndrome (SS) is a rare disease of unknown etiology. Literature suggests that only around 300 well-diagnosed cases have only been reported worldwide and rarely from India. This syndrome has a slight male predominance with a mean age of onset of around 50 years. It is considered an autoinflammatory disease with presentation mimicking adult-onset Still's disease and systemic lupus erythematosus, and its presentation most commonly includes recurrent fever, urticarial rash, arthralgia, and bone pains. The probable pathogenesis is considered to be cytokine-mediated, mostly interleukin- 1 (IL-1), and its association with the NRLP3 gene has been mentioned in a few reports. Herein, we report a case of a 40-year-old female who presented to us with fever, jaundice, rash, and pedal edema, and detailed investigations revealed leukocytosis with low complements, normal bone marrow with an 'M band' in the immunoglobulin M (IgM) region. Skin biopsy was suggestive of leukocytoclastic vasculitis and renal biopsy was suggestive of membranoproliferative glomerulonephritis (MPGN). All autoimmune and viral markers were negative, including cryoglobulins, and by excluding all possible differentials, the diagnosis of Schnitzler syndrome was confirmed. SS is a disease of exclusion and several autoimmune, hematological infections need to be excluded, hence, this requires extensive workup. It’s the rarest of rare cases, with a variable presentation, specially pyrexia of unknown origin (PUO) with rash, hence this case will open the physician's vision of undiagnosed cases, and further research will help understand its pathogenesis. Cureus 2021-02-14 /pmc/articles/PMC7965238/ /pubmed/33747647 http://dx.doi.org/10.7759/cureus.13338 Text en Copyright © 2021, Kumar et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Kumar, Rajesh
Behera, Anupama
Seal, Ratul
Patra, Subhabrata
Schnitzler Syndrome: A Recherche Entity
title Schnitzler Syndrome: A Recherche Entity
title_full Schnitzler Syndrome: A Recherche Entity
title_fullStr Schnitzler Syndrome: A Recherche Entity
title_full_unstemmed Schnitzler Syndrome: A Recherche Entity
title_short Schnitzler Syndrome: A Recherche Entity
title_sort schnitzler syndrome: a recherche entity
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7965238/
https://www.ncbi.nlm.nih.gov/pubmed/33747647
http://dx.doi.org/10.7759/cureus.13338
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