A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations

Dermatology. 2013;227(1):26-30. doi: 10.1159/000351323. Epub 2013 Aug 8.


Nakajo-Nishimura syndrome (NNS) is a very rare hereditary autoinflammatory disorder that generally has its onset in infancy with pernio-like rashes and gradually develops into partial lipodystrophy. A distinct homozygous PSMB8 mutation encoding an immunoproteasome subunit has recently been identified as its genetic cause. Here, we report a new case of a patient with NNS who developed exudative erythemas on his face and extremities at 2 months of age, along with high fever, elevated serum hepatic aminotransferase levels and hepatosplenomegaly. Massive infiltration of inflammatory cells was observed histologically in the dermis and subcutis without apparent leukocytoclastic vasculitis. These symptoms improved with oral corticosteroids but recurred periodically, and a thin angular face with long clubbed fingers gradually developed. Identification of the PSMB8 mutation finalized the diagnosis of NNS at 5 years of age. Understanding a variety of clinicopathological features at the developmental stages is necessary to make an early diagnosis of NNS.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anti-Inflammatory Agents / therapeutic use
  • Betamethasone / therapeutic use
  • Child, Preschool
  • Dermatologic Agents / therapeutic use
  • Erythema Nodosum / diagnosis*
  • Erythema Nodosum / drug therapy
  • Erythema Nodosum / genetics*
  • Fingers / abnormalities*
  • Hepatomegaly / complications
  • Humans
  • Male
  • Methotrexate / therapeutic use
  • Mutation
  • Proteasome Endopeptidase Complex / genetics*
  • Splenomegaly / complications


  • Anti-Inflammatory Agents
  • Dermatologic Agents
  • Betamethasone
  • LMP7 protein
  • Proteasome Endopeptidase Complex
  • Methotrexate

Supplementary concepts

  • Nakajo syndrome