Conditions / Syndrome
Blau syndrome
info · Syndrome
A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
Signs and symptoms
- Intermittent generalized erythematous papular rash
- Arthritis
- Camptodactyly of finger
- Uveitis
- Nongranulomatous uveitis
- Joint swelling
- Tendonitis
- Flexion contracture of toe
- Band keratopathy
- Abnormal cranial nerve morphology
Also known as: ARTHROCUTANEOUVEAL GRANULOMATOSIS; BLAUS; Jabs syndrome