Living with Blau syndrome
A genetic inflammatory condition that mainly affects the skin, joints, and eyes, starting in early childhood.
Understanding Blau syndrome
Signs usually start in childhood, before age 4. The earliest sign is often a lasting rash that can be scaly or have hard lumps under the skin. Arthritis (joint swelling and pain) is common, often first in the hands, feet, wrists, and ankles. Most people also develop uveitis, inflammation in the middle layer of the eye.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Lasting skin rash or bumps
- Joint pain, swelling, and stiffness (arthritis)
- Eye inflammation (uveitis)
- Sensitivity to light (photophobia)
- Fever
- Cloudy lens (cataract) or glaucoma
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, allergy and immune system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in NOD2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Cure Blau Syndrome Foundation and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Cure Blau Syndrome Foundation, Immune Deficiency Foundation
- 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 Cure Blau Syndrome Foundation 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 the NOD2 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: arthrocutaneouveal granulomatosis; blaus; early-onset sarcoidosis; eos; granulomatosis, familial juvenile systemic; granulomatosis, familial, blau type
Patient organizations
- Cure Blau Syndrome FoundationBlau syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Blau syndrome.
Explore research for Blau syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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