Blau Syndrome: A Rare Multisystemic Genetic Disease with Distinctive Clinical Manifestations

Blau syndrome is an extremely rare genetic disease characterized by a multisystemic clinical presentation affecting the skin, joints, eyes and nervous system. It autosomal dominantly inherited caused mutations in NOD2/CARD15 gene. This predominantly affects children, although adult-onset cases have been reported. The epidemiology of limited due to its low prevalence, with fewer than 200 reported worldwide. Diagnosis based on evaluation molecular testing identify Treatment focuses symptom control reduction inflammation, using non-steroidal anti-inflammatory drugs, corticosteroids and, more severe cases, immunosuppressive agents. Multidisciplinary collaboration between different medical specialties essential for comprehensive management patients. Although advances made understanding syndrome, research still needed elucidate pathophysiology, therapeutic options.