CANDLE syndrome (Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature), or Nakajo-Nishimura syndrome, is an autoinflammatory disease that presents during the first months of life with recurrent fever episodes, along with the occurrence of skin lesions during childhood, which are present during the progression of the disease, although they may be less apparent after puberty. Lipodystrophy is observed during early childhood, and joint damage (arthralgia, hypermobility of the fingers, joint stiffness, and chronic chondritis) usually appears in advanced adulthood. The morbidity of this disease is variable, and no specific therapy is currently available. It is a genetic disorder caused by mutations in the genes of the proteasome and immunoproteasome systems. Most reported cases presented a recessive inheritance pattern, although dignic forms have been reported as well, with the presence of heterozygous variants in the PSMB8 gene along with variants in other genes, such as PSMA3, pSMB9 or PSMB4.
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