Symptoms of Blau syndrome can appear during infancy and are usually evident by age 5 V体育ios版. The symptoms primarily affect your child’s skin, joints and eyes.
The first sign of Blau syndrome is an inflammatory skin rash called granulomatous dermatitis VSports最新版本. The rash usually forms on an infant’s arms, legs or torso during their first year of life.
Signs of this type of dermatitis include:
Blau syndrome can inflame the lining (synovium) of your child’s joints V体育平台登录. Your child may develop arthritis in their hands, wrists, feet and ankles when they’re between 2 and 4 years old.
Signs of arthritis include:
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Up to 80% of children diagnosed with Blau syndrome develop an eye condition called uveitis. Uveitis causes swelling in the eye’s middle layer (uvea). It may also affect their retinas and optic nerves. Your child can develop uveitis in both eyes, which can impair their vision VSports注册入口.
Signs of uveitis include:
Although rare, your child with Blau syndrome may develop potentially life-threatening inflammation in their:
Inflammation from Blau syndrome can lead to:
A change to the NOD2 gene causes Blau syndrome. In most people, the NOD2 gene produces a NOD2 protein that helps their immune system fight off germs and infections VSports在线直播.
When your child has Blau syndrome, the NOD2 protein is overactive and alters how their immune system works V体育2025版. This overreaction triggers an extreme inflammatory response (inflammation) that affects your child’s eyes, skin and joints.
A child who has one parent with Blau syndrome (or the gene mutation that causes it) has a 50% chance of inheriting the changed gene and developing the syndrome. A child only needs to inherit one altered gene to develop the disease. This means it’s an autosomal dominant disorder.
A child may inherit the gene mutation and not develop Blau syndrome. But they have a 50% chance of passing the mutated gene to each of their future children.
Depending on your child’s symptoms, they may receive care from a team of healthcare providers, including:
Diagnostic tests for Blau syndrome vary depending on your child’s symptoms. A genetic test (blood test) can detect the changed NOD2 gene that causes Blau syndrome.
Your child may also get one or more of these tests:
Prenatal tests like chorionic villus sampling or amniocentesis don’t test for NOD2 gene mutation specifically.
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Your child’s healthcare provider may refer to Blau syndrome by one of these names:
Blau syndrome is extremely rare. It affects fewer than 1 in 1 million children worldwide.
Your child’s team of healthcare providers will treat the various conditions to ease symptoms and keep them from reoccurring (a disease flare-up). Treatments vary by condition and severity and may include:
While there isn’t a cure for Blau syndrome, treatments can ease symptoms and help your child enjoy a good quality of life up to and through adulthood. The condition affects everyone differently. One study found that 40% of children with Blau syndrome had mild symptoms and were able to function as well as their peers. But the disease caused severe symptoms for 10% of children. When Blau syndrome affects the vital organs, it may shorten a person’s life expectancy.
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If you or your partner has the gene mutation that causes Blau syndrome, you may want to meet with a genetic counselor before having children. This specialist can discuss your risk of future generations inheriting the changed NOD2 gene.
Call your healthcare provider if your child has:
You may want to ask your healthcare provider:
Blau syndrome and early-onset sarcoidosis are the same disease with the same symptoms. But children with Blau syndrome inherit the gene change that causes the disease. Children with early-onset sarcoidosis have no family history of Blau syndrome. The NOD2 gene changes or mutates sporadically for no known reason (a de novo gene mutation).
Raising a child with a chronic condition like Blau syndrome can be challenging. If you also have Blau syndrome, you can use your personal experiences to better advocate for your child’s care. You can also use your insights to help your child cope with this lifelong disease. It’s important to seek care from experts familiar with arthritis, uveitis and skin diseases that comprise Blau syndrome. These healthcare providers can help manage your child’s symptoms, ensuring your child has the best childhood possible.
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As your child grows, you need healthcare providers by your side to guide you through each step. Cleveland Clinic Children’s is there with care you can trust.
Last reviewed on 08/09/2023.
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