GTR Home > Conditions/Phenotypes > Blau syndrome

Summary

Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4. A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps (nodules) that can be felt under the skin. The rash is usually found on the torso, arms, and legs. Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by inflammation of the lining of joints (the synovium). This inflammation, known as synovitis, is associated with swelling and joint pain. Synovitis usually begins in the joints of the hands, feet, wrists, and ankles. As the condition worsens, it can restrict movement by decreasing the range of motion in many joints. Most people with Blau syndrome also develop uveitis, which is ... swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). Inflammation of any of these structures can lead to severe vision impairment or blindness. Less commonly, Blau syndrome can affect other parts of the body, including the liver, kidneys, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can cause life-threatening complications. [from GHR] more

Associated genes

  • Also known as: ACUG, BLAU, CARD15, CD, CLR16.3, IBD1, NLRC2, NOD2B, PSORAS1, NOD2
    Summary: nucleotide-binding oligomerization domain containing 2

Clinical features

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  • Splenomegaly
  • Anemia
  • Lymphadenopathy
  • Hypertension
  • Xerostomia
  • Respiratory insufficiency
  • Flexion contracture of toe
  • Dilatation of the ascending aorta
  • Cataract
  • Glaucoma
  • Arthralgia
  • Dry skin
  • Uveitis
  • Vasculitis
  • Intermittent generalized erythematous papular rash
  • Renal insufficiency
  • Nephropathy
  • Retinopathy
  • Visual impairment
  • Band keratopathy
  • Abnormality of the ear
  • Photophobia
  • Optic atrophy
  • Eczema
  • Skin rash
  • Hypermelanotic macule
  • Iritis
  • Choroideremia
  • Abnormality of the cranial nerves
  • Arthritis
  • Limitation of joint mobility
  • Joint swelling
  • Abnormality of the liver
  • Abnormality of the pericardium
  • Subcutaneous hemorrhage
  • Morphological abnormality of the central nervous system
  • Pulmonary hypertension
  • Abnormality of temperature regulation
  • Nongranulomatous uveitis
  • Ichthyosis
  • Renal neoplasm
  • Abnormality of the salivary glands
  • Facial palsy
  • Camptodactyly of finger
  • Retrobulbar optic neuritis
  • Synovitis
  • Skin ulcer
  • Cystoid macular edema
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