CANDLE syndrome

CANDLE syndrome, short for chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, is an autosomal recessive autoinflammatory disorder. It causes repeated long-lasting fevers, several kinds of skin lesions and inflammation in many parts of the body. Other features can include joint contractures, enlarged lymph nodes, an enlarged liver and spleen, autoimmune haemolytic anaemia and lipodystrophy. The usual cause is a mutation in the PSMB8 gene, which affects proteasomes that break down proteins, and further mutations in related proteasome genes have also been reported. The syndrome was named in 2010 after four patients with similar symptoms were reviewed, and about thirty cases had been reported by 2015. It belongs to the proteasome-associated autoinflammatory syndromes, and patients do not respond to IL-1 inhibition.