JMP/CANDLE syndrome

Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome) and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome)

JMP is an extremely rare autosomal recessive syndrome that was first described in a Japanese family in 1984. It has since been described in 2 Caucasian families.

Symptoms start in childhood and include:

  • loss of fat under facial skin
  • loss of muscle bulk
  • severe joint contractures
  • rash
  • anaemia

CANDLE syndrome is a very similar disease, described in Caucasians.

Symptoms start soon after birth and include attacks of:

  • fever
  • rash
  • joint aches and swelling
  • loss of fat under facial skin

As in all the inherited fever syndromes there are raised levels of inflammatory markers in both conditions.

Both syndromes are caused by mutations in a gene called PSMB8 which lead to production of an abnormal inflammatory protein called an immunoproteasome. This abnormal protein leads to overactive inflammation through mechanisms which are not yet fully understood