Blau Syndrome is an inflammatory disorder that can affect the skin, joints and eyes. In most cases, it initially presents before the age of four and it can have varying degrees of severity.
The primary symptom of BS is a skin condition called granulomatous dermatitis, which is a pattern of scaly, hard lumps that can be felt on or just under the top layer of skin. This rash most often occurs on the arms, legs and abdomen.
Along with the skin irritation, Blau Syndrome can also have other symptoms, including arthritis, usually within the first 10 years of life, and, in some cases, swelling and inflammation of the middle layer of the eye, or uvea.
This inflammation, called uveitis, can cause eye irritation, pain, and blurred vision. When the inflammation reaches other parts of the eye, including the optic nerve and retina, it can result in severe vision impairment and even blindness.
In some very rare cases, inflammation can also occur in other organs including the kidneys, liver, lungs or heart. This inflammation can be severe and even life threatening.
What causes Blau Syndrome?
Blau Syndrome is a genetic disease that results from a mutation in the NOD2 gene. This gene produces a protein which is part of the body’s immune system, helping to prevent foreign invaders from damaging the body.
When the NOD2 gene is affected, that response is overactive, causing the severe inflammation, pain and skin rash.
While most individuals with Blau Syndrome have at least one parent with the condition from whom they directly inherit the NOD2 gene mutation, there are some instances where there is no family history. This non-inherited form of the condition is called early-onset sarcoidosis.
Are there any treatments available?
As of now, there is no optimal treatment for Blau Syndrome, though moderate to low dose corticosteroids have been found to effectively control uveitis and joint pain.
Unfortunately, long term use of corticosteroids can have negative effects, so you have to weigh the pros and the cons of using this type of medication over years and years. Methotrexate has also been used in a once weekly dosage to suppress the disease and allow for gradual weaning from corticosteroids.
In cases where uveitis becomes severe, surgical intervention may be necessary to alleviate the painful symptoms. In most cases, however, eye damage will not be completely reversible, resulting in at least some amount of vision loss.
If you or your child suffers from Blau Syndrome, consult with your doctor about the best possible course of treatment. There is no need to live with painful or uncomfortable symptoms. Talk to you doctor today and together you can figure out a course of treatment that will work best for you.