Table 1 Diagnostic criteria for Nakajo-Nishimura syndrome

1 Clinical manifestations

 1. Autosomal recessive inheritance (parental consanguinity and/or familial occurrence)

 2. Pernio-like purplish rash in hands and feet (appearing in winter since infancy)

 3. Haunting nodular erythema with infiltration and induration (sometimes circumscribed)

 4. Repetitive spiking fever (periodic, not necessarily)

 5. Long clubbed fingers and toes with joint contractures

 6. Progressive partial lipomuscular atrophy and emaciation (marked in the upper part of body)

 7. Hepatosplenomegaly

 8. Basal ganglia calcification

2 PSMB8 gene analysis

 Flowchart for diagnosis

  1) In case at least five out of eight clinical manifestations are positive and other disorders can be excluded, diagnosis as NNS can be clinically defined. If not, only suspected. When NNS is clinically defined or suspected, the PSMB8 gene is analyzed.

  2) Definite: Clinically defined or suspected, and disease-associated PSMB8 mutation detected in both alleles

  3) Probable: Clinically defined, but no disease-associated PSMB8 mutation detected in both alleles