JMP/CANDLE syndrome

Print Friendly, PDF & Email

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

Share