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Infantile onset panniculitis with uveitis and systemic granulomatosis: a new clinicopathologic entity

Carine H Wouters1, Tammy M Martin, Dorothee Stichweh

  • 1University Hospital Gasthuisberg, Leuven, Belgium. carine.wouters@uz.kuleuven.ac.be

The Journal of Pediatrics
|November 24, 2007
PubMed

Insights

Four children experienced infantile-onset lobular panniculitis with fever and uveitis. Standard immunosuppressive therapy was ineffective, but anti-tumor necrosis factor monoclonal antibody showed promise in treating this rare inflammatory condition.

Area of Science:

  • Pediatric Rheumatology
  • Immunology
  • Genetics

Background:

  • Infantile-onset lobular panniculitis is a rare inflammatory condition.
  • Associated symptoms include high fever, uveitis, and systemic granulomatous inflammation.
  • Genetic mutations in CARD15 and CIAS1 are not consistently found in these cases.

Purpose of the Study:

  • To describe the clinical characteristics and treatment outcomes of children with infantile-onset lobular panniculitis.
  • To investigate the genetic basis of this condition.
  • To evaluate the efficacy of different therapeutic strategies.

Main Methods:

  • Case series of 4 children recruited through the International Registry of Pediatric Granulomatous Arthritis.
  • Clinical data collection including symptoms, disease course, and treatment response.
  • Genetic analysis for CARD15 and CIAS1 mutations.

Main Results:

  • All 4 patients presented with infantile-onset lobular panniculitis, high fever, uveitis, and systemic granulomatous inflammation.
  • No mutations in CARD15 or CIAS1 were identified.
  • Disease progression was observed despite conventional immunosuppressive therapy.
  • Three out of four patients showed a positive response to anti-tumor necrosis factor monoclonal antibody treatment.

Conclusions:

  • Infantile-onset lobular panniculitis is a severe condition unresponsive to standard immunosuppression.
  • Genetic testing for CARD15 and CIAS1 may not be informative in all cases.
  • Anti-tumor necrosis factor monoclonal antibody therapy represents a potential treatment option for this challenging pediatric inflammatory disease.

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