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Nakajo-Nishimura syndrome

Disease definition

Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.


Classification level: Subtype of disorder
  • Synonym(s):
    • Amyotrophy-fat tissue anomaly syndrome
    • NNS
    • Secondary hypertrophic osteoperiostosis with pernio
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: L98.8
  • OMIM: 256040
  • UMLS: -
  • MeSH: -
  • GARD: 3916
  • MedDRA: -

Detailed information


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