Pediatric Granulomatous Arthritis (PGA) – aka Juvenile Systemic Granulomatosis, Blau syndrome, Early Onset Sarcoidosis, or Jabs Syndrome, NOD2-associated disease-Blau

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Acronym:
PGA/BLAU/EOS

SAID group:
NOD2-associated Granulomatous Disease

Gene:
NOD2 (certain mutations)

Inheritance:
Autosomal dominant.

Ethnicity:
Affects all races.

Frequency:
Unknown, but rare.

Timing of symptoms:
Intermittent or persistent daily fevers, rash and arthritis.

Age of onset:
Rash often develops by 4 months of age, fevers and other symptoms present by 4 years of age. [34]

Skin cutaneous:
First symptom: scaly plaques. The rash often starts on the face, then on the torso or chest. Biopsies with non-caseating granulomatous dermatitis. [34]

Neurologic:
Intermittent-persistent daily fevers. Some have cranial neuropathies. 80% have vision damage and joint deformities if untreated. Some cases have peripheral nerves affected. [34]

Auditory:
Not noted. [34]

Ophthalamic:
Uveitis (some with blindness). 50% with cataracts, 1:3 patients get secondary glaucoma. Inflamed conjunctiva (conjunctivitis), and/or inflammation of the lacrimal glands, retina and optic nerves is common. [34]

Cardiopulmonary:
Some have atrial hypertension and/or pericarditis. Some cases with lung involvement. [34] [35]

Abdominal:
Hepatomegaly, splenomegaly or hepatosplenomegaly. Some with abdominal pain, higher risk for kidney and/or liver issues. [34] [35] [36]

Lymphatic:
Splenomegaly, lymphadenopathy. [34] [35] [36]

Joints bones muscles cartilage:
Symmetrical chronic polyarthritis or oligoarthritis of the wrists, knees, ankles with a boggy appearance is usually caused by an exuberant tenosynovitis. [34] [35] [36]

Vasculitis:
Some with vasculitis, leukocytoclastic vasculitis. [34]

Amyloidosis:
Not noted. [34]

Abnormal labs:
High CRP and ESR, angiotensin converting enzyme (ACE), immunoglobulins. Anemia, leukopenia, eosinophilia, hematuria, proteinuria, pyuria, abnormal liver function tests (LFTs). [34] [36]

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