Blau Syndrome

What is Blau Syndrome?

Blau syndrome is a collection of symptoms associated with the skin, as well as arthritis and iritis. It is a genetic condition, present from birth, and effectively incurable, making it chronic. Blau syndrome is characterized by skin granulomas which give the skin of even the youngest individuals a very rough texture, almost leathery (although not necessarily substantially thicker, and not damaged, as ‘leathery’ skin may imply in other contexts).

Who gets Blau Syndrome?

Blau syndrome is autosomally inherited. More specifically, it is an autosomal dominantly inherited syndrome. This means that it is passed from parent to child. An individual whose parents lack the appropriate genetic traits cannot suffer from Blau syndrome. As such, Blau syndrome is extremely rare. The autosomes are the chromosomes specifically not linked to the sex chromosomes, which means there is absolutely no restriction on who can inherit it based on sex.

Similarly, individuals of all ethnicities are equally likely to suffer from Blau syndrome. The only determining factor is the genetic disposition of the parents as it affects the genetic disposition of the child. Following this, Blau syndrome will simply present itself; there are no other relevant triggers, and no one is more or less likely to suffer from it.

What causes Blau Syndrome?

Blau syndrome is caused by a genetic mutation commonly associated with the NOD2 gene. It is an inherited syndrome, which means that no environmental factors contribute to disposition for Blau syndrome.

Unlike some genetic disorders, which are only triggered by environmental stimulus later in the life of the individual in possession of the appropriate genetic mutations, Blau syndrome depends on no trigger. It develops over time as a result of the genetic differences in and of themselves. It is not an allergy nor a response to any environmental factor, and as such cannot be avoided. This contributes to the difficulty in treating it.

What does Blau Syndrome cause?

Blau syndrome causes a host of symptoms, most of which are related to the skin. It is characterized by a certain roughness to the skin brought on by persistent skin granulomas. Granulomas are masses of immune cells formed to isolate what are perceived as invading pathogens. In the case of Blau syndrome, these granulomas are not actually defending against an invading agent at all and are simply causing a deformity of the skin.

Other symptoms include arthritis and iritis, a both similarly tied to granuloma, and a number of individuals with Blau syndrome also present with joint difficulties in their fingers and toes, as well as Crohn’s disease.

How serious is Blau Syndrome?

Blau syndrome is a serious condition that is thankfully very rare. The worst issue of Blau syndrome stems from its chronic nature; it cannot be cured. Unlike some chronic syndromes, however, Blau syndrome cannot necessarily be said to remit either. While the granulomas are the cause of erroneous immune response, the arthritis and iritis are likely to persist. These can be severely debilitating. Arthritis can be extremely painful, and while iritis is also extremely painful, it can result in visual impairment. Thus, Blau syndrome cannot be ignored, and its symptoms must be treated with extreme prejudice.

What does Blau Syndrome treatment look like?

Blau syndrome treatment is primarily symptomatic. Because it is a genetic condition, it cannot be effectively ‘cured’, but extended treatment can abate the symptoms to some extent.

A primary method of treatment for Blau syndrome is immunosuppressants. Immunosuppressants limit the activity of the immune system and can prevent it from harming healthy cells that do not need to be flushed out or damaged in any way. This can greatly help the symptoms of Blau syndrome to abate, but does carry some risk in that it leaves the individual taking them more vulnerable (although certainly not defenseless) to other infections.

Symptomatic treatments for iritis include eyedrops, and symptomatic treatment for arthritis is generally based on pain management. The granuloma may be concealed with some forms of cosmetics.

How do I know if I have Blau Syndrome?

Blau syndrome is easily identified at birth by physicians. It is not possible for it to manifest later in life, and one cannot ‘catch’ Blau syndrome. Individuals suffering greater difficulty from Blau syndrome should, however, consult a medical professional.

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