Group of diseases associated with autosomal recessive transmission of mutations of the PSMB8 gene (6p21.3) coding for a subunit of the proteasome β5. Proteasome are ubiquitous intracellular organelles, responsible for the degradation and  recycling of proteins.

These diseases present as frequent bouts of fever from early childhood, with nodular erythema or pernio-like lesions, anemia of variable severity, autoimmune abnormalities and lipodystrophy. CRP and IL-6 blood levels are very high with hypergammaglobulinemia. This probably represents the spectrum of severity of a same disease.

These are:

-        the CANDLE syndrome,  acronym for Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature, or atypical chronic neutrophilic dermatosis-lipodystrophy-fever.

-        the JMP syndrome or Joint contractures, Muscle atrophy, microcytic anemia and Panniculitis-induced lipodystrophy

-          the JASL syndrome or Japanese Autoinflammatory Syndrome with Lipodystrophy.

-        the Nakajo-Nishimura syndrome

Anesthetic implications:

see each of these terms

References :

-        McDermott A, Jacks J, Kessler M, Emanuel PD, Gao L.
Proteasome-associated autoinflammatory syndromes : advances in pathogeneses, clinical presentations, diagnosis, and management.
Int J Dermatology 2014; 54 : 121-9

Updated: November 2018