Candle syndrome

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature is a recently described rare autosomal recessive disorder characterized by systemic autoinflammation. This syndrome is caused by loss of function mutations and malfunction of the immunoproteasome complex. Clinical manifestations include episodes of fever accompanied by erythematous skin lesions, progressive lipodystrophy, violaceous periorbital swelling, failure to thrive, enlarged liver, high level of liver enzymes, chronic anemia and low height and weight.They have a strong type I interferon gene expression signature. This syndrome is so new and rare, the prognosis and survival is unclear. Research on treatment may extend a hope for the future generation.