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

Abstract

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