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Blau syndrome

Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis

Prevalence

<1 >

< 331

US Estimated

< 514

Europe Estimated

Age of Onset

ICD-10

D89.8

Inheritance

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

Rare View

Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.
Granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve nodules that can be felt under the skin. The rash is usually found on the torso, arms, and legs. Most people with Blau syndrome also develop uveitis.

5 Facts you should know

FACT

1

A rare condition characterized mainly by skin rash, arthritis and uveitis

FACT

2

It usually affects preschool age children, typically younger than four years of age

FACT

3

The first symptom is most often granulomatous dermatitis

FACT

4

Characteristic findings include synovial effusions and cysts, anterior uveitis and focal posterior synechiae

FACT

5

Camptodactyly and other findings have also been reported

Interest over time

Google searches

Blau syndrome is also known as...

Blau syndrome is also known as:

  • Arthrocutaneouveal granulomatosis
  • ACUG; Granulomatosis, familial, Blau type
  • Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial
  • Synovitis granulomatous with uveitis and cranial neuropathies

What’s your Rare IQ?

The triad of organs affected by granulomatous inflammation in Blau syndrome is….

Common signs & symptoms

Arthralgia

Joint pain

Erythema

Hyperpigmentation of the skin

Patchy darkened skin

Iridocyclitis

Keratitis

Corneal inflammation

Limitation of joint mobility

Papule

Polyarticular arthritis

Top Clinical Trials

At the time this analysis was conducted, there were no interventional clinical studies being conducted.

Top Treatments in Research

At the time this analysis was conducted, there were no treatments in development for this disease.