Typical diagnosis looks for at least 5 out of 8 proposed criteria for<unk> : 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. These features are not always apparent until childhood. Histopathologic examination shows focal mononuclear cell infiltration with vasculopathy. Laboratory results include continually elevated C-reactive protein (CRP) levels and hyper-gamma-globulinemia. Autoantibody titers rise as the disease progresses in some but remain negative in others. Molecular genetic testing can detect a disease causing mutation, verifying diagnosis.
Nakajo syndrome
DeSanto-Shinawi syndrome
Currarino syndrome
Mungan syndrome
Rotor syndrome
Baggio–Yoshinari syndrome
Ardalan–Shoja–Kiuru syndrome
Okamoto syndrome