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
