[MIM 256 040]

Acronym for Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature.

Rare. Autosomal recessive transmission or de novo 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 two weeks and six months of life with a relapsing fever with annular erythematous skin spots lasting from a few days to a few weeks, leaving residual purpuric lesions. Later: swollen and purplish eyelids, and thick lips. All patients have delayed physical development (short stature and low weight). Most of the patients also present with arthralgia without arthritis. More rarely: conjunctivitis, nodular episcleritis,  chondrititis of the ears and the nose, and bouts of aseptic meningitis. The peripheral lipodystrophy involves especially the face and the limbs; it is progressive and irreversible. 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