Overview
Infantile-onset periodic fever-panniculitis-dermatosis syndrome is a very rare inflammatory disease that begins in the first year or two of life. It is sometimes referred to by its Orphanet code ORPHA:500062. The condition causes the immune system to become overactive in a way that leads to repeated episodes of fever, painful inflammation of the fat layer under the skin (called panniculitis), and unusual skin changes (dermatosis). These episodes come and go over time, which is why the word 'periodic' is used in the name. The disease affects multiple parts of the body, but the skin and fat tissue are the most visibly involved. Children may develop tender, red, or swollen lumps under the skin, along with rashes or other skin changes during flare-ups. Fevers can be high and recurring, often without an obvious infection causing them. The immune system appears to be the root driver of these symptoms. Because this condition is extremely rare and only recently described, treatment is not yet standardized. Doctors typically use anti-inflammatory medicines, including steroids and other drugs that calm the immune system, to manage flare-ups and reduce symptoms. Research is ongoing to better understand the cause and find more targeted therapies. Early diagnosis and close follow-up with specialists are important to protect the child's quality of life.
Key symptoms:
Recurring episodes of high feverPainful, tender lumps or nodules under the skin (panniculitis)Red or inflamed skin rashes (dermatosis)Swelling and redness of the skin during flare-upsFatigue and irritability during fever episodesSkin changes that may leave marks or scars after healingEpisodes that come and go over weeks or monthsGeneral feeling of being unwell during flares
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Infantile-onset periodic fever-panniculitis-dermatosis syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Infantile-onset periodic fever-panniculitis-dermatosis syndrome.
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 Infantile-onset periodic fever-panniculitis-dermatosis syndrome.
Community
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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.What tests do you recommend to confirm this diagnosis and rule out other conditions?,Should my child have genetic testing, and what might it tell us?,What medicines do you recommend to manage flares, and what are the risks of long-term use?,How will we know if the treatment is working, and what should we do if it stops working?,Are there any clinical trials or research studies my child might be eligible for?,What signs should prompt me to take my child to the emergency room?,Are there other specialists or rare disease centers you would recommend we connect with?
Common questions about Infantile-onset periodic fever-panniculitis-dermatosis syndrome
What is Infantile-onset periodic fever-panniculitis-dermatosis syndrome?
Infantile-onset periodic fever-panniculitis-dermatosis syndrome is a very rare inflammatory disease that begins in the first year or two of life. It is sometimes referred to by its Orphanet code ORPHA:500062. The condition causes the immune system to become overactive in a way that leads to repeated episodes of fever, painful inflammation of the fat layer under the skin (called panniculitis), and unusual skin changes (dermatosis). These episodes come and go over time, which is why the word 'periodic' is used in the name. The disease affects multiple parts of the body, but the skin and fat tis
At what age does Infantile-onset periodic fever-panniculitis-dermatosis syndrome typically begin?
Typical onset of Infantile-onset periodic fever-panniculitis-dermatosis syndrome is infantile. Age of onset can vary across affected individuals.