Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, or CANDLE syndrome, is a rare autoinflammatory condition.
What Is CANDLE Syndrome?
Autoinflammatory syndromes are disorders of the immune system that result in chronic inflammation. Typical symptoms include recurring fevers, skin lesions, rashes, ulcers, joint pain, and inflammation of organs like the liver or intestine.
CANDLE syndrome can include all these symptoms. People also may experience fat loss, chronic anemia, and low height and weight.
CANDLE syndrome is very rare. There are 60 known cases in the world, according to the Autoinflammatory Alliance.
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CANDLE Syndrome Symptoms
Almost all cases of CANDLE syndrome begin in infancy, often within the first few months after birth. Signs and symptoms can look different depending on the child. Almost every symptom causes discomfort or pain.
The most common signs and symptoms include:
- Joint and limb pain.
- Recurrent fevers.
- Enlarged liver and high liver enzymes.
- Rash on the face or body consisting of circular red-purple lesions.
- Failure to thrive and growth delays.
- Swelling of the eyelids, lips, fingers, and toes, often with a red-purple discoloration.
- Progressive lipodystrophy (fat loss).
- Contractures (tightening of muscles, tendons, joints, ligaments, or skin that restricts movement).
- Headaches and seizures.
- Enlarged lymph nodes and spleen.
- Inflammation of the eye.
Call your doctor immediately if you notice any of the following:
- Recurrent or even daily fevers.
- Skin lesions, particularly around the eyes.
- Muscle wasting.
- Abnormal fat loss.
CANDLE Syndrome Causes
Changes to the PSMB8 and related genes are the cause of CANDLE syndrome. Genetic testing is usually required to confirm the diagnosis. Unfortunately, genetic testing can sometimes be inconclusive.
The changes to the PSMB8 gene lead to a buildup of protein waste products. This causes cells to malfunction and leads to an increase in production of certain proteins that cause inflammation (known as interferons), according to the American Journal of Medical Genetics.
Because the condition is usually genetic, there is no way to prevent CANDLE syndrome.
According to Frontiers in Immunology, related disorders include:
- Various proteasome-associated disorders.
- NOMID/CINCA syndrome.
- Acquired and congenital generalized lipodystrophy.
- Sweet syndrome.
- Aicardi–Goutières syndrome.
- STING-associated vasculopathy with onset in infancy (SAVI).
CANDLE Syndrome Risk Factors and Prognosis
CANDLE syndrome is a somewhat new and very rare condition. Because of that, more research around risk factors is necessary to better understand the condition. Still, early intervention can improve a child’s quality of life. It may increase life expectancy, too, since the risk of organ inflammation is high.
Like many autoinflammatory conditions, multi-organ inflammation is the most serious, life-threatening symptom of CANDLE syndrome. More research is necessary to judge a true prognosis and survival rate for the condition, especially as new therapies become available.
Diagnosing CANDLE Syndrome
Doctors usually can diagnose CANDLE syndrome through a clinical exam. Blood tests, imaging, and biopsy of skin lesions may also aid in the diagnosis. Genetic testing can confirm the diagnosis.
Treatments may benefit your child even if the cause of CANDLE syndrome isn’t clear. That’s why diagnosis and early intervention matter.
According to Frontiers in Immunology, CANDLE syndrome is usually suspected when a child shows the following symptoms:
- Characteristic skin lesions.
- Lipodystrophy (fat loss).
- Early-onset fevers.
CANDLE Syndrome Treatment
More research is necessary to find a standard treatment for CANDLE syndrome. Early treatment is critical because the risks of leaving CANDLE syndrome untreated are high.
Medications such as corticosteroids and methotrexate are commonly used to reduce inflammation in CANDLE syndrome. A recent study showed that baricitinib, a drug approved to treat rheumatoid arthritis, was effective for several patients with CANDLE in decreasing symptoms, improving growth, and decreasing the need for steroids.
Doctors tailor care to each patient and aim to manage their pain and symptoms. This improves the quality of life and prevents high-risk complications like multi-organ inflammation.
Treatments can include physical therapy to prevent joint contractures and nutrition therapy to optimize growth. Other therapies may be targeted towards affected organs for each patient.
Also, you should get regular clinical follow-ups and consistent joint, eye, and skin exams. These appointments can help keep a close eye on inflammatory attacks.
Why choose UPMC Children’s Center for Rare Disease Therapy?
Children with rare disorders like CANDLE syndrome need specialized care. Knowledgeable, 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.
Specialties within IDDAT include:
- Infectious Disease
These specialists work together to help kids with CANDLE syndrome and related disorders.
Families who work with the team at IDDAT enjoy:
- Specialized patient care.
- Access to innovative research opportunities.
- Diagnostic expertise and support.
- Access to beneficial, lifesaving treatment.
For more information about IDDAT, visit our website.
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