It is a genetic or inherited disease passed down from one parent to a child.
The symptoms develop as a triad, affecting the skin, eyes, and joints.
The condition can lead to various health issues throughout childhood and adulthood.
Reproduced with permission from © DermNetdermnetnz.org2023.
Since there is no cure, treatments are used to manage it to avoid complications as the disease progresses.
Reproduced with permission from DermNetdermnetnz.org2023.
Blau Syndrome Onset in Children
Blau syndrome is considered a rare disease.
It is degenerative and progressive and can be life-threatening in some cases.
It is characterized by the onset ofuveitis,granulomatousdermatitis, andarthritis.
Symptoms include:
The third presentation isarthritis, which is inflammation of the lining of the joints.
It can lead to symptoms including:
Other symptoms can also develop, although they are rarer.
They affect other organ systems in the body.
The most common time symptoms surface is between newborn age and two years.
Autoimmune Component
The symptoms of Blau syndrome develop because of a genetic mutation.
It is classified as autoimmune because the immune system mistakenly causesinflammationto occur in healthy regions of the body.
The Genetic Mutation That Drives Blau Syndrome
Mutations in the NOD2 gene are responsible for Blau syndrome.
This gene plays a role in producing proteins designed to assist the immune system.
These drugs work by producing anti-inflammatory effects.
Immunosuppressants
Immunosuppressants reduce the immune system’s action to help reduce inflammation.
By keeping the immune system working at a reduced rate, the level of inflammation also goes down.
Certain drugs that act asimmunosuppressants, known astumor necrosis factor-alpha(TNF-alpha) inhibitors, may also be used.
These drugs stop TNF-alpha from performing its job of causing inflammation.
Complementary Treatments
There are no complementary treatments available for Blau syndrome.
Also, because its a rare disease, it may be challenging to get a proper diagnosis quickly.
Once a diagnosis is reached, watch for flares by gauging your childs symptoms daily.
Its possible to achieve remission, but its not always common, as symptoms can persist even with treatment.
Summary
Blau syndrome is a rare disease that develops in early infancy.
It can cause a range of painful and debilitating symptoms in children and continues to progress as people age.
American Academy of Ophthalmology.What is uveitis?
Shmerling RH.Patient education: Arthritis (Beyond the Basics).
Cure Blau Syndrome Foundation.What is blau syndrome?
