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Blog #7 – CANDLE Syndrome

CANDLE Syndrome

If this is our first blog you are reading, we like to get some medical professionals to do some research so we can understand and help you (as a parent or a friend of a family) to better understand what it is and more importantly, what communities can you be a part of.  

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Feel free to jump down to the medical description of this condition below but also, get in community to learn more.  Please utilise the groups below if you have not already had access to a support system amongst your journey of understanding CANDLE Syndrome: 

 

Websites for Support Groups:

https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/candle-syndrome

https://www.nomidalliance.org/candle.php

https://rarediseases.org/gard-rare-disease/chronic-atypical-neutrophilic-dermatosis-with-lipodystrophy-and-elevated-temperature/

https://rarediseases.oscar.ncsu.edu/disease/candle-syndrome/communities/

Facebook Support Groups:

https://www.facebook.com/groups/nomidalliance/

 

Medical Information about Krabbe Disease: 

With so many confusing things out on the internet, we also want you to also remember that Take Part supports children like yours on a day to day basis! If you want people to know the TRUTH of what your child is going through, go ahead and create a warrior profile through our website. This can be used to raise awareness on social media, or simply just shared between friends and family for updates. 

As a team, none of us ARE doctors; however we work with some amazing medical professionals that have given us more insight below. Please continue reading and use the information to navigate your own personal journey or share with anyone you may know may benefit. 

 

It stands for chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature which is a rare autoinflammatory condition and usually develops in your child during the first years of life. It arises when the immune system of the child attacks the body by mistake. It usually occurs if 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 anaemia 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 autoinflammatory conditions, your child with CANDLE would not respond to interleukin-1 inhibition treatment to stop the autoinflammatory response completely. In some children tumour 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. Multiorgan 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.