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Infantile-onset periodic fever-panniculitis-dermatosis syndrome

Disease definition

A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection.


Classification level: Disorder
  • Synonym(s):
    • ORAS
    • OTULIN deficiency
    • OTULIN-related autoinflammatory syndrome
    • Otulipenia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: D89.8
  • OMIM: 617099
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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