Blau Syndrome is a hereditary and autoinflammatory condition that affects the skin, eyes, and joints of the body. Characterized by three ailments together including granulomatous arthritis, dermatitis, and uveitis, the disease primarily begins as a simple rash on the skin. More often, it affects children younger than four years of age. The ailment got its name because this inflammatory disorder was first described by E Blau in 1985. Difficult to diagnose at the outset, the only test that can confirm Blau syndrome is detailed evaluation and genetic testing, detecting the presence of a genetic mutation. The earliest apparent symptom of this illness is a granulomatous dermatitis-a form of skin inflammation that causes continuous rashes on the body. In some rare cases, Blau syndrome can also cause inflammation of vital organs that may decrease their functional abilities, thus posing serious health complications. This genetic ailment has many other names such as early onset sarcoidosis, pediatric granulomatous arthritis, and familial juvenile systemic granulomatosis. Blau syndrome is primarily a monogenic disease that occurs due to modification in one gene present in all the body’s cells which is from a single mutation in the NOD2 gene.
Also Read: Sarcoidosis: Causes, Symptoms, And Treatment
When Does Symptom Of Blau Syndrome Appear?
The onset of this disease varies from person to person. For some symptoms may begin in early life while for some it can be at a later stage. There are chances that they may appear after the child has turned around ten, but in most cases, the most common range when symptoms start to show up is between five months to five years. The appearance and progression of the symptoms are different for every individual. Generally, a rash tends to develop around 1st year of life, joint issues may appear by the age of 2, and eye anomalies may come up by the age of around 3 years. Boggy polyarthritis (when the joints are soft and tender) is observed when the child reaches 4. At a later stage, uveitis begins to develop.
Also Read: Uveitis: Causes, Symptoms, And Treatment
Associated Conditions With The Blau Syndrome
Various health conditions co-occur with Blau syndrome. Some of them are:
- Rheumatoid arthritis
- Mild to chronic inflammation of tendons and around the joints
- A sudden accumulation of fluid around the joints
- Sudden swelling in the middle layer of one or both eyes
- Episodes of conjunctivitis
- Deposits of calcium in the kidneys
- Renal disorders
- Severe inflammation of blood vessels and other vital organs
- Toes and fingers getting bent
Diagnosis Of Blau Syndrome
Typically, hard to diagnose, and there is a series of findings that may be needed for a confirmed prognosis of this disorder. The doctor reviews the family’s medical history, and the patient’s health history and looks at major symptoms by performing a thorough physical exam. Certain laboratory tests may also be conducted to rule out associated health conditions and co-morbidities. In case the doctor suspects that an infant has joint, eye, and skin symptoms, genetic testing is advised which helps to evaluate major chromosome irregularities, single genes, and the range and number of proteins in the body.
Treatment And Prevention Of Blau Syndrome
Like any other genetic health condition, presently, there is no specific cure for Blau syndrome. There are only measures that can be taken to manage the symptoms associated with the disorder. Most people with Blau syndrome experience joint pain and decreased joint mobility. Therefore remedies, therapies, and precautionary measures to alleviate pain and inflammation are taken. For people who have corneal inflammation, extreme light sensitivity, and cataract, certain painkillers and corticosteroids may help reduce inflammation and discomfort. For skin problems, darkened or patchy skin, swollen lymph nodes, increased blood pressure, breathing problems, and abnormal nerve functions, related immunosuppressant medications are recommended alongside potential steroids. Preventive measures are advised to avoid further flares of associated health conditions.
