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Osteitis Deformans (Paget Disease of Bone)

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Overview


Plain-Language Overview

Osteitis Deformans (Paget Disease of Bone) is a chronic condition that affects the bones, causing them to grow larger and weaker than normal. It primarily involves the abnormal breakdown and formation of bone tissue, which can lead to bone pain, deformities, and fractures. The disease most commonly affects the pelvis, skull, spine, and long bones of the legs. People with this condition may notice changes in bone shape or experience symptoms like bone pain or hearing loss if the skull is involved. Although it often progresses slowly, it can significantly impact mobility and quality of life. The exact cause is unknown but may involve genetic and environmental factors.

Clinical Definition

Osteitis Deformans (Paget Disease of Bone) is a localized disorder of bone remodeling characterized by excessive and disorganized bone resorption followed by increased but structurally abnormal bone formation. The disease results from hyperactive osteoclasts leading to increased bone turnover and formation of woven bone that is mechanically weaker. It is often idiopathic but may have a genetic component involving mutations in the SQSTM1 gene. The condition typically affects older adults and can be asymptomatic or present with bone pain, deformities, and fractures. Complications include osteosarcoma transformation and neurological symptoms due to nerve compression. Diagnosis relies on clinical, radiographic, and biochemical findings.

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