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Schnitzler Syndrome: A Recherche Entity.

Rajesh Kumar1, Anupama Behera1, Ratul Seal1

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Schnitzler syndrome (SS) is a rare autoinflammatory disease. This case highlights a rare presentation in a 40-year-old female, emphasizing the need for extensive workup to diagnose this condition of exclusion.

Keywords:
monoclonal igm gammopathympgnpuorashschnitzler syndrome

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Area of Science:

  • Rheumatology
  • Immunology
  • Rare Diseases

Background:

  • Schnitzler syndrome (SS) is a rare autoinflammatory disorder of unknown etiology, with limited reported cases globally, especially from India.
  • It typically affects middle-aged males and presents with recurrent fever, urticarial rash, arthralgia, and bone pain, often mimicking other autoimmune conditions.
  • Pathogenesis is thought to be cytokine-mediated, particularly involving interleukin-1 (IL-1), with potential links to the NLRP3 gene.

Observation:

  • A 40-year-old female presented with fever, jaundice, rash, and pedal edema.
  • Investigations revealed leukocytosis, low complements, a normal bone marrow with an IgM 'M band', leukocytoclastic vasculitis on skin biopsy, and membranoproliferative glomerulonephritis (MPGN) on renal biopsy.
  • All autoimmune and viral markers, including cryoglobulins, were negative.

Findings:

  • The diagnosis of Schnitzler syndrome was confirmed by excluding other potential conditions, classifying it as a disease of exclusion.
  • This case presents a rare demographic and clinical manifestation of SS, including jaundice and pedal edema.
  • The findings underscore the diagnostic challenges posed by SS, particularly when presenting as pyrexia of unknown origin (PUO) with rash.

Implications:

  • This report expands the understanding of SS's variable presentation, especially in non-typical demographics and symptoms.
  • It highlights the critical need for a comprehensive diagnostic workup to differentiate SS from other autoimmune and hematological disorders.
  • Further research into the pathogenesis of Schnitzler syndrome is warranted to improve diagnostic strategies and therapeutic interventions.