CANDLE syndrome

Abstract

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autoinflammatory disease firstly reported in 2010, which is characterized by periodic fever, early onset, weight-height growth retardation, recurrent violaceous annular plaques on the trunk and extremities, eyelid swelling, lip hypertrophy, lipodystrophy, abdominal bulge, hepatomegaly and increased acute-phase reactants. Histopathological examination of skin lesions shows compact infiltration of atypical myeloid mononuclear cells mixed with mature neutrophils, eosinophils, lymphocytes and histocytes in the dermis, and sometimes in the subcutaneous adipose tissues. Immunohistochemical study reveals positive staining for CD68, LEDER and myeloperoxidase. CANDLE syndrome is a kind of proteasome-associated monogenic inherited disease, and more and more mutation sites have been reported to be related to its occurrence and development. There is no specific treatment for CANDLE syndrome, the quality of life of patients is severely affected, and the prognosis is poor in most patients. Glucocorticoids, immunosuppressive agents and biological agents may be effective for CANDLE syndrome in some patients. Key words: Hereditary autoinflammatory diseases; Skin manifestations; Diagnosis; Treatment outcome; Syndrome, CANDLE