Living with Familial chilblain lupus
A rare inherited skin condition with cold-triggered red bumps and patches on the fingers, toes, nose, and ears.
Understanding Familial chilblain lupus
It begins in infancy or childhood. The lesions appear mostly on the fingers, toes, nose, cheeks, and ears. Repeated sores can damage tissue, and reduced blood flow can affect these areas.
Signs & symptoms
GARD describes these features in its summary:
- Red bumps or plaques triggered by cold
- Lesions on the fingers, toes, nose, cheeks, and ears
- Repeated skin sores
- Reduced blood flow to affected areas
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, brain and nervous system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Lupus Foundation of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it. GARD does not name the gene.
Also known as: chbl; familial chilblain lupus erythematosus; hereditary chilblain lupus
Patient organizations
- Lupus Foundation of AmericaFamilial chilblain lupus · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial chilblain lupus.
Explore research for Familial chilblain lupus
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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