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Sterile multifocal osteomyelitis with periostitis and pustulosis

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Description

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. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14.

SNOMEDCT_US

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

83

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Genes

External Links

  • OMIM

    612852

  • Orphanet

    210115

  • HPO
  • Medgen

    C2748507

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