Main clinical features
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autoinflammatory syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy
usually begins in early infancy with a pernio-like rash
lipodystrophy affected the face, arms, and thorax initially and more severely than the abdomen and lower extremities, which were affected later
hepato-splenomegaly and hypergammaglobulinemia; joint contractures initially affected the hands and feet, which were more severely deformed than the other joints |