Rare Rheumatology News

Spotlight On

Blau syndrome

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

Prevalence

<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of Onset

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ICD-10

N/A

Inheritance

Autosomal dominant

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Autosomal recessive

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Mitochondrial/Multigenic

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X-linked dominant

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X-linked recessive

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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

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

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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 treatments in development for this disease.

Top Treatments in Research

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