[1] Signs of the disease begin during early childhood with individuals developing red, swollen lumps (nodular erythema) on the skin especially during colder weather, frequent fevers, and elongated fingers and toes with widened and rounded tips (clubbing).

[4] Later in childhood, individuals with the disease develop join pain, and joint deformities (contractures) that limit movement predominantly in the hands, wrists, and elbows.

It has been noted that malfunctions in PSMB8 cause the destruction of proteins which leads to muscle degradation and fat loss.

[6] Typical diagnosis looks for at least five out of eight proposed criteria for Nakajo syndrome: an autosomal recessive inheritance pattern, pernio-like purplish lesions (on hands and feet), ''haunting'' nodular erythema, repetitive spiking fever, long clubbed fingers and toes with joint contractures, progressive upper body lipomuscular atrophy/emaciation, hepatosplenomegaly and basal ganglion calcification on computed tomography (CT) scans.

Laboratory results include continually elevated C-reactive protein (CRP) levels and hyper-gamma-globulinemia.

[9] Though a majority of cases originate in Japan, however two siblings reported by Garg were Portuguese and also born from a consanguineous marriage.