Joint contractures, Muscle atrophy, microcytic anemia and Panniculitis-induced lipodystrophy

(JMP syndrome)

Very rare. Autosomal recessive transmission of a mutation of the PSM8B gene (6p21.3) coding for β5 sub-unit of immunoproteasomes.

This autoinflammatory disease belongs to the group of the functional anomalies of the proteasomes (ubiquitous intracellular organelles,  responsible for the degradation and recycling of proteins).

Onset between one month and six months of life with relapsing annular erythematous skin spots, without fever, lasting from a few days to a few weeks. Most of the patients also present with arthritis with a progressive lipodystrophy. Presence of very invalidating contractures of the joints. MRI: often, calcifications of the basal ganglia.


Anesthetic implications:

check full blood count (chronic anemia); side effects of treatment (steroids, immunosuppressive agents, inhibitors of IL-6)


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