Overview
Familial chilblain lupus (also called familial chilblain lupus erythematosus or FCL) is a rare inherited skin condition that belongs to a group of diseases called type I interferonopathies. These are conditions where the immune system is overactive in a specific way, producing too much of a signaling protein called interferon. This overactivity causes the body to attack its own tissues, especially the skin. The most noticeable feature of this disease is chilblain-like skin lesions — painful, reddish-purple patches or sores that look like frostbite damage, even when the person has not been exposed to extreme cold. These lesions most commonly appear on the fingers, toes, ears, nose, and cheeks. Cold and damp weather can make them worse. The skin sores can become ulcers and may leave scars over time. Beyond the skin, some people with familial chilblain lupus develop features similar to systemic lupus erythematosus (SLE), including joint pain, fatigue, and abnormal blood test results. The condition usually begins in childhood or early adulthood. There is no cure at this time, but treatments can help manage symptoms and reduce flares. Management often involves protecting the skin from cold, using anti-inflammatory medications, and sometimes drugs that calm the immune system.
Key symptoms:
Painful reddish-purple skin patches on fingers, toes, ears, nose, and cheeks that look like frostbiteSkin sores that get worse in cold or damp weatherSkin ulcers that are slow to healScarring of the skin after sores healJoint pain and swellingFatigue and general tirednessSensitivity to cold temperaturesSwollen lymph nodesAbnormal blood test results similar to lupus (such as positive ANA)Occasional mouth soresMild fever during flares
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Familial Chilblain lupus.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Familial Chilblain lupus at this time.
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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 Familial Chilblain lupus.
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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.Which gene mutation do I have, and what does that mean for my specific symptoms and outlook?,Should other family members be tested, and if so, who should be tested first?,What medications do you recommend for managing my skin lesions, and what are the risks and benefits?,How can I tell if my disease is progressing to affect other organs like the kidneys or joints?,Are there any clinical trials or new treatments I should know about?,What warning signs should prompt me to seek emergency care?,What lifestyle changes — beyond staying warm — can help reduce flares?
Common questions about Familial Chilblain lupus
What is Familial Chilblain lupus?
Familial chilblain lupus (also called familial chilblain lupus erythematosus or FCL) is a rare inherited skin condition that belongs to a group of diseases called type I interferonopathies. These are conditions where the immune system is overactive in a specific way, producing too much of a signaling protein called interferon. This overactivity causes the body to attack its own tissues, especially the skin. The most noticeable feature of this disease is chilblain-like skin lesions — painful, reddish-purple patches or sores that look like frostbite damage, even when the person has not been exp
How is Familial Chilblain lupus inherited?
Familial Chilblain lupus follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial Chilblain lupus typically begin?
Typical onset of Familial Chilblain lupus is childhood. Age of onset can vary across affected individuals.
Which specialists treat Familial Chilblain lupus?
10 specialists and care centers treating Familial Chilblain lupus are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.