Medical Information about Candle Disease: 

Candle Disease usually occurs in children if the PSMB8 (Proteasome Subunit, Beta Type, 8) gene does not work properly due to mutation in it and other genes associated with this condition include: PSMB4, POMP (proteasome maturation protein), and PSMB3. The mutated gene causes the proteins not to be degraded and results in build-up of oxidative proteins in cellular tissues, ultimately causing apoptosis, particularly in muscle cells.  

Signs and symptoms

Symptoms typically arise within the first few months of life of your child causing pain and discomfort and might include:

Persistent fevers and purple-coloured spots around the eyes and on skin

Bones and joints pain

Body fat loss or Lipodystrophy

Muscles wasting, contractures and seizures

Enlarged liver 

Anemia 

Short stature

Failure to thrive 

Diagnosis

CANDLE syndrome could be diagnosed through a clinical exam based upon the features of the disease. It could only be proved by genetic analysis however the diagnosis could be based on following tests:

Skin biopsy involving immunohistochemistry

Blood tests for whole blood count, erythrocyte sedimentation rate to evaluate extent of anemia and inflammation 

Treatment and management

There is no efficient therapeutic regimen for CANDLE syndrome because it is a genetic disorder. However, your child needs care with the am to manage symptoms and pain. Contrasting to other auto-inflammatory conditions, your child with CANDLE would not respond to interleukin-1 inhibition treatment to stop the auto-inflammatory response completely. In some children tumor necrosis factor alpha inhibitors, provide improvement temporarily. For the symptomatic treatments, high doses of steroids might show improvement in skin rashes, fever and bones or joints pain in your child, but these manifestations might return. Specific organ therapy and physical therapy is used to avoid joint contractures. 

Prognosis

Since CANDLE syndrome is a very rare disease, the survival rate and the prognosis of it is not clear. Multi-organ inflammation is the most serious life-threatening cause so, anti-inflammatory treatment might help to increase survival rate and enhance the quality of life. 

How is CANDLE inherited?

As CANDLE is an autosomal recessive disorder, in which your child would carry two copies of the defective gene. Both the parents of the child with CANDLE syndrome would have one copy of the mutated gene and would act as carriers without having any signs or symptoms. If both the parents have at least one copy of the mutated gene, there would be a 25% chance for the child to have CANDLE syndrome.