What Is CANDLE Syndrome?

CANDLE syndrome is a rare autoinflammatory condition. CANDLE stands for chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature.

It often starts 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.

It’s very rare. There are only 60 known CANDLE syndrome cases in the world.

What Causes CANDLE Syndrome?

Changes to the PSMB8 gene are mostly the cause of CANDLE syndrome. These changes lead to a buildup of protein waste products and cause other cells to malfunction.

It's hard to diagnose CANDLE syndrome without genetic testing. And because it's an autoimmune disease, testing is sometimes inconclusive.

Disorders related to CANDLE syndrome include:

  • Various proteasome disability syndromes.
  • CINCA syndrome.
  • Panniculitis-induced acquired generalized lipodystrophy.
  • Sweet syndrome.
  • Other skin problems (similar to acute myeloid leukemia).

CANDLE Syndrome Prevention and Risk Factors

Because it's mainly genetic, you can’t prevent CANDLE syndrome.

At this time, we need more research around risk factors to understand it better.

But early diagnosis and treatment can greatly improve a child's quality of life. Both may also increase life expectancy since the risk of organ inflammation is high.

CANDLE Syndrome Symptoms

Almost all cases of CANDLE syndrome start 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.

Common signs and symptoms include:

  • Joint pain.
  • Developmental delays.
  • Recurrent fevers.
  • Purpura.
  • Swollen eyelids.
  • Slow and progressive fat loss in the face, neck, chest, arms, and belly.
  • Muscle contractures and stiffness.
  • Seizures.

If you notice any of the following in your baby, call your doctor right away:

  • Recurrent or even daily fevers.
  • Skin lesions, notably around the eyes.
  • Muscle wasting.
  • Abnormal fat loss.

How Do You Diagnose CANDLE Syndrome?

Treatments may help your child even if the cause of CANDLE syndrome isn't clear. That's why early diagnosis matters.

Doctors may suspect CANDLE syndrome when a child shows the following symptoms:

  • Characteristic skin lesions.
  • Fat loss.
  • Early onset fevers.

Genetic testing is currently the only way to confirm a CANDLE syndrome diagnosis. An advanced skin biopsy may also help with a diagnosis.

CANDLE syndrome prognosis and survival rate

Because CANDLE syndrome is so new and rare, the prognosis and survival rate are unclear.

Multi-organ inflammation is the most serious, life-threatening symptom.

Investments in treatment and research may offer hope for the future.

CANDLE Syndrome Treatment

There’s no current standard treatment for CANDLE. We need more research to find a specific treatment for all cases.

But the risks of leaving CANDLE syndrome untreated are high.

To help kids who have rare autoimmune disorders, UPMC Children's Hospital of Pittsburgh created a special program. It's called IDDAT: the Immune Dysregulation Diagnosis and Treatment Program. It’s part of the Center for Rare Disease Therapy (CRDT).

Here are some of the specialties within IDDAT:

These specialists work together to help kids with CANDLE syndrome and related disorders.

Our doctors tailor care to each child and aim to:

  • Manage their pain and symptoms.
  • Improve their quality of life.
  • Prevent high-risk complications like inflammation.

Physical therapy to prevent joint contractures and specific organ therapy is vital.

We also keep a close eye on inflammatory attacks through:

  • Routine follow-ups.
  • Consistent joint, eye, and skin exams.
  • Lab tests.

Families who work with the IDDAT team enjoy:

  • Specialized patient care.
  • Chances to take part in innovative research.
  • Diagnostic expertise and support.
  • Access to beneficial, life-saving treatment.

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Contact Us About Your Child’s CANDLE Syndrome

At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.

For an appointment, consult, or referral, contact us:

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