Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis

J Inherit Metab Dis. 2013 Nov;36(6):1079-80. doi: 10.1007/s10545-012-9573-z. Epub 2013 Feb 6.

Abstract

The case of a 10-year-old boy with Farber lipogranulomatosis with predominant joint involvement, subacute, laryngeal and tongue granulomas, microcytic anemia, elevated ESR and CRP, is presented. The boy had no signs of CNS and internal organ involvement. The disease manifested at 6 months; at 11 months the boy had widespread granulomatous polyarthritis with contractures, and juvenile idiopathic arthritis (JIA) was suggested. All antirheumatic therapies failed. Immunologic assessment revealed elevated serum interleukin-1β, increased T-helper, NK and CD25-positive cells, and circulating immune complexes. Our case with predominant rheumatologic manifestations illustrates a differential diagnosis of JIA.

Publication types

  • Case Reports

MeSH terms

  • Arthritis / diagnosis*
  • Arthritis / etiology*
  • Arthritis, Juvenile / diagnosis*
  • Arthritis, Juvenile / etiology
  • Child
  • Diagnosis, Differential
  • Farber Lipogranulomatosis / complications*
  • Farber Lipogranulomatosis / diagnosis*
  • Humans
  • Male