Geroderma Osteodysplastica：遺伝的基盤、臨床的特徴、および管理に関する物語レビュー

Geroderma osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder. It presents with progeroid craniofacial features, lax skin, hypermobile joints, and osteoporosis. GO arises from pathogenic variants in GORAB that disrupt Golgi apparatus function and extracellular matrix organization. This narrative review synthesizes the current evidence on its clinical presentation, differential diagnosis, molecular basis, and treatment. Management is largely supportive and interdisciplinary, involving orthopedic, dental, and physiotherapeutic care. Therapeutic intervention focuses on preventing bone density loss and decreasing fracture risk with bisphosphonates and vitamin D supplementation. Improved understanding of GO through larger cohort studies and care protocols is needed to improve patient outcomes and guide translational research.