Orphanet: Sterile multifocal osteomyelitis with periostitis and pustulosis

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Sterile multifocal osteomyelitis with periostitis and pustulosis

Disease definition

Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.


Classification level: Disorder
  • Synonym(s):
    • Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
    • DIRA
    • Interleukin-1 receptor antagonist deficiency
    • OMPP
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 612852
  • UMLS: C2748507
  • MeSH: -
  • GARD: 10516
  • MedDRA: -
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