Signs of the disease begins 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). Later in childhood, individuals with the disease develop join pain, and joint deformities (contractures) that limit movement predominantly in the hands, wrists, and elbows. They additional have weakness and wasting of muscle and fat loss that worsens over time. This leads to an extremely thin (emaciated) appearance in the face, chest, and arms. Other symptoms of<unk> -Nishimura<unk>  are enlarged liver and spleen (hepatosplenomegaly), shortage of red blood cells (anemia), reduced levels of platelet blood cells (thrombocytopenia), and calcification in the basal ganglia area of the brain. There have been cases of intellectual disability in affected individuals.<unk> -Nishimura<unk>  has overlapping symptoms with joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP)<unk>  and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE)<unk> . These conditions are all caused by mutations in the PSMB8 and characterized by skin abnormalities and lipodystrophy. Although these conditions are considered different diseases, some researchers believe they represent different forms of a single condition.
Nakajo syndrome
DeSanto-Shinawi syndrome
Currarino syndrome
Mungan syndrome
Rotor syndrome
Baggio–Yoshinari syndrome
Ardalan–Shoja–Kiuru syndrome
Okamoto syndrome