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CANDLE syndrome is a rare autoinflammatory condition. CANDLE stands for chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. Ongoing fevers, fat loss, and skin lesions are the most common symptoms.
CANDLE syndrome usually develops during a child's first year of life. Affected children may have enlarged livers and high levels of liver enzymes. Chronic anemia and low height and weight are also part of CANDLE syndrome.
CANDLE syndrome is very rare. There are only 60 known cases in the world, according to experts at the Autoinflammatory Alliance.
Changes to the PSMB8 gene are usually the cause of CANDLE syndrome. These changes lead to a buildup of protein waste products and cause other cells to malfunction, according to the American Journal of Medical Genetics.
It's hard to diagnose CANDLE syndrome without genetic testing. And because it's an autoimmune condition, testing is sometimes inconclusive.
According to the NIH Genetic and Rare Diseases (GARD) Information Center, related disorders include:
Because it's usually genetic, you cannot prevent CANDLE syndrome.
At this time, more research around risk factors is necessary to understand it better. But diagnosis and early intervention can significantly improve a child's quality of life. Both may increase life expectancy, too, since the risk of organ inflammation is high.
Almost all cases of CANDLE syndrome begin early in infancy. But signs and symptoms may look very different from child to child. That said, many of CANDLE syndrome's symptoms can cause pain and discomfort.
Here are some of the most common signs and symptoms:
If you notice any of the following, call your doctor immediately:
Treatments may benefit your child even if the cause of CANDLE syndrome isn't clear. That's why diagnosis and early intervention matters.
According to a 2017 Frontiers in Immunology article, CANDLE syndrome is usually suspected when a child shows the following symptoms:
Genetic testing is currently the only way to confirm diagnosis. An advanced skin biopsy (involving immunohistochemistry studies) may also be helpful in establishing a diagnosis, per the Frontiers article.
Because it's so new and rare, the prognosis and survival rate for CANDLE syndrome is unclear. Multi-organ inflammation is the most serious, life-threatening symptom. Investments in treatment and research may offer hope for the future.
A standard treatment for CANDLE syndrome is not yet available. More research is necessary to find a specific treatment for all cases.
However, the risks of leaving CANDLE syndrome untreated are high.
Doctors tailor care to each patient and aim to manage their pain and symptoms. This improves quality of life and prevents high-risk complications like inflammation.
Physical therapy to prevent joint contractures and specific organ therapy is vital, as stated in the Frontiers in Immunologyarticle. Also mandatory? Regular clinical follow-ups and lab testing to keep a close watch on inflammatory attacks as well as consistent joint, eye, and skin exams.
Children with rare disorders like CANDLE syndrome need specialized care. Knowledgable, dedicated providers must quickly diagnose each patient and provide them with cutting-edge treatments. Learn more about the Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh.
To help kids who have rare autoimmune disorders, UPMC Children's created a special program. It's called IDDAT: the Immune Dysregulation Diagnosis and Treatment Program.
Here are some of the specialties within IDDAT:
These specialists work together to help kids with CANDLE syndrome and related disorders.
Families who work with the team at IDDAT enjoy:
Concerned your child may have CANDLE syndrome? Contact the Center for Rare Disease Therapy at UPMC Children's.
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