Overview
CANDLE syndrome stands for Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature. It is also known as Nakajo-Nishimura syndrome, JMP syndrome, or proteasome-associated autoinflammatory syndrome (PRAAS). This is a very rare genetic condition that affects the immune system, causing it to be overactive from a very young age. The disease belongs to a group of conditions called proteasome-associated autoinflammatory syndromes. The hallmark of CANDLE syndrome is recurring fevers that begin in infancy, along with distinctive skin rashes that look like red or violet ring-shaped patches. Over time, children develop lipodystrophy, which means they lose fat tissue under the skin, especially in the face and arms, giving a thin or wasted appearance. The condition also causes joint pain and swelling, muscle wasting, and delayed growth. Many patients develop an enlarged liver, and blood tests often show signs of ongoing inflammation, including anemia. There is currently no cure for CANDLE syndrome. Treatment focuses on controlling inflammation and managing symptoms. JAK inhibitors, particularly baricitinib, have shown significant promise in clinical trials and are used to reduce inflammation and fevers. Before JAK inhibitors became available, treatment options were very limited, as the disease often did not respond well to standard anti-inflammatory medications or immunosuppressive drugs. Early diagnosis and treatment are important to prevent long-term damage to organs and tissues.
Key symptoms:
Recurring fevers starting in infancyRed or purple ring-shaped skin rashesLoss of fat tissue under the skin (lipodystrophy), especially in the faceDelayed growth and short statureJoint pain and swellingMuscle wasting and weaknessEnlarged liverSwollen eyelids, especially with puffy or violet discolorationAnemia (low red blood cell count)Elevated inflammatory markers in blood testsThickened or hardened skin in some areasCalcium deposits in body tissues (calcifications)Fatigue and low energyClubbing of fingers
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for CANDLE syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for CANDLE syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to CANDLE syndrome.
Community
No community posts yet. Be the first to share your experience with CANDLE syndrome.
Start the conversation →Latest news about CANDLE syndrome
No recent news articles for CANDLE syndrome.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Is my child eligible for treatment with baricitinib or other JAK inhibitors?,Are there any clinical trials currently enrolling patients with CANDLE syndrome?,How often will my child need blood tests and monitoring?,What signs should prompt me to seek emergency care?,How can we support my child's growth and nutrition?,What are the long-term risks of the medications being used?,Should other family members be tested for the genetic mutations?
Common questions about CANDLE syndrome
What is CANDLE syndrome?
CANDLE syndrome stands for Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature. It is also known as Nakajo-Nishimura syndrome, JMP syndrome, or proteasome-associated autoinflammatory syndrome (PRAAS). This is a very rare genetic condition that affects the immune system, causing it to be overactive from a very young age. The disease belongs to a group of conditions called proteasome-associated autoinflammatory syndromes. The hallmark of CANDLE syndrome is recurring fevers that begin in infancy, along with distinctive skin rashes that look like red or violet rin
How is CANDLE syndrome inherited?
CANDLE syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does CANDLE syndrome typically begin?
Typical onset of CANDLE syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat CANDLE syndrome?
18 specialists and care centers treating CANDLE syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.