Blau syndrome: A Rare Auto-Inflammatory Disorder By: Maria Tzortzis

 Blau syndrome (BS) is a rare inherited autoinflammatory disorder affecting less than 1 in 1

million children worldwide. Typically, the disease has an early onset, affecting children around 3

to 4 years of age. Blau syndrome is characterized by dermatologic, rheumatologic, and

ophthalmologic manifestations. Some symptoms consist of skin rashes, arthritis, and uveitis– a

condition that causes inflammation of the uvea. It is caused by a change in the NOD2 gene,

which is typically responsible for the development of a protein that plays an important part in

immune system function. As of today, there is no treatment.



Blau syndrome is primarily inherited through genetics. It is an autosomal dominant disorder,

meaning only one parent needs to have Blau syndrome to give their child a 50% chance of

developing it. It is possible for a child to inherit the gene mutation without the disease itself, and

give their future children a 50% chance of developing it as well. In someone with Blau

syndrome, the NOD2 protein is overactive, which causes extreme inflammation in the patients

eyes, skin, and joints, altering how their immune syndrome works. Evident symptoms typically

appear before the age of 5. The first indicator of a child with Blau syndrome is granulomatous

dermatitis– an inflammatory skin rash which appears on an infant's arms, legs, or torso during

their first years of life. This dermatitis is characterized by hard lumps (granulomas) under the

skin, scaly skin, and red, yellow, or tan bumps on the epidermis of the skin. Blau syndrome

inflames the synovium of joints, causing arthritis in hands, wrists, feet, and ankles as young as 2

years old. Signs of arthritis are: joint pain, musculoskeletal pain, swollen/stiff joints. Around 80%

of those with Blau syndrome develop uveitis (inflammation of the uvea). Uveitis also affects

retinas and optic nerves causing impaired vision, eye pain, photosensitivity, swollen eyes, eye

floaters, and red eye. If you think you may have Blau syndrome do the following to get

diagnosed: contact a dermatologist, rheumatologist, and ophthalmologist and as for an eye

exam (optimal coherence tomography and visual field testing), imaging tests to view joints (MRI,

CT scan, ultrasound, or X-ray), and a skin biopsy. You may also get a genetic blood test. If all

these come positive it is safe to assume that you may have Blau syndrome. As there is no cure

at the moment there are limited treatments to reduce symptoms. A few treatments are

immunosuppressants such as corticosteroids and methotrexate, anti-inflammatory drugs, eye

medication, and physical therapy.


Patients that suffer with Blau syndrome deserve support and recognition.Blau syndrome may

also shorten a person's life expectancy when it affects the major organs. Around 40% of people

with Blau syndrome had mild syndrome and were able to function normally, but what about the

other 60% they deserve that gift too. Donate to Blau syndrome foundation to accelerate the

search for a cure and give all children who suffer with it a chance of functioning as well as their

peers.


To summarize, Blau syndrome affects less than 1000 Americans, however it's still real. Children

with Blau syndrome may have severe inflammation in eyes, joints, and skin that could affect

their day to day life. It is passed down from generation to generation and is characterized by a

change in the NOD2 protein. There aren’t many treatments as of now however medication and

physical therapy could help ease symptoms. If we all spread awareness we could help find a

cure for Blau syndrome.


[1]“Blau Syndrome: Symptoms, Causes & Outlook,” Cleveland Clinic, Aug. 11, 2023.

https://my.clevelandclinic.org/health/diseases/25182-blau-syndrome#management-and-treatm

ent (accessed Jun. 28, 2026).

[1]L. Punzi, A. Gava, P. Galozzi, and P. Sfriso, “Blau syndrome,” Best Practice & Research Clinical

Rheumatology, vol. 25, no. 5, pp. 703–714, Dec. 2011, doi:

https://doi.org/10.1016/j.berh.2011.10.017.

[1]MedlinePlus, “NOD2 gene: MedlinePlus Genetics,” medlineplus.gov, Dec. 01, 2017.

https://medlineplus.gov/genetics/gene/nod2/

[1]A. Agarwal and S. Karande, “Blau syndrome: An under-reported condition in India?,” Journal

of Postgraduate Medicine, vol. 68, no. 2, pp. 63–67, Mar. 2022, doi:

https://doi.org/10.4103/jpgm.jpgm_1016_21.

[1]“Uveitis: Symptoms, Causes, Treatment & Types,” Cleveland Clinic, Mar. 25, 2024.

https://my.clevelandclinic.org/health/diseases/14414-uveitis

[1]“Donate | Cure Blau Syndrome,” Cure Blau Syndrome, 2019.

https://www.curebs.com/donate (accessed Jun. 28, 2026).

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