CANDLE SYNDROME

By Gary M. White, MD


Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature (CANDLE) syndrome is a new auto-inflammatory syndrome caused by mutations in the gene for proteasome subunit, beta type, 8 (PSMB8).

Clinical

The typical patient is an infant with fever and recurrent annular erythematous and violaceous, plaques that may leave purpura upon healing. Later during infancy, the eyelids become swollen and erythematous or violaceous. The lips may be thick and there may be a progressive lipodystrophy. Non-cutaneous findings include fevers, delayed physical development, microcytic anaemia and arthralgia.

Treatment

Treatment usually involves high dose corticosteroids, e.g., prednisone 1-2 mg/kg/day which improves the skin lesions, joint pain and fever. The JK inhibitor baricitinib is being investigated. w

References

British J Dermatology 2014 January

JAAD March 2010 Volume 62, Issue 3, Pages 489–495

Biomed Res Int. 2014; 2014: 616973.

Example Case

A 3 month-old infant presents with fever and recurrent annular erythematous and violaceous plaques that leave purpura. The rash resembles urticarial vasculitis. Later in infancy the eyelids become swollen and erythematous. As the child grows, the lips become thick and the cheeks sunken (lipodystrophy).

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