Panostotic fibrous dysplasia
Panostotic Fibrous Dysplasia is a rare form of fibrous dysplasia that affects the entire skeleton. This condition is characterized by the replacement of normal bone with fibrous tissue, leading to structural problems and an increased risk of fractures. Unlike the more common monostotic or polyostotic forms, which affect a single bone or multiple bones respectively, panostotic fibrous dysplasia involves the entire skeletal system.
Symptoms and Diagnosis[edit | edit source]
Patients with panostotic fibrous dysplasia may experience a wide range of symptoms, including bone pain, deformities, and fractures. The severity and specific symptoms can vary greatly among individuals. Diagnosis typically involves a combination of medical history, physical examination, radiography (X-rays), and possibly magnetic resonance imaging (MRI) or computed tomography (CT) scans. A definitive diagnosis may require a bone biopsy, where a small sample of affected bone is examined under a microscope.
Etiology[edit | edit source]
The cause of panostotic fibrous dysplasia is linked to a mutation in the GNAS gene, which encodes a protein involved in the regulation of cell growth and division. This mutation leads to the overproduction of fibrous tissue and the underproduction of normal bone. The mutation occurs after conception, in the early stages of fetal development, and is not inherited from the parents.
Treatment[edit | edit source]
There is no cure for panostotic fibrous dysplasia, and treatment focuses on managing symptoms and preventing complications. Options may include pain management, physical therapy, and surgical interventions to correct deformities or stabilize bones. Bisphosphonates, a type of medication that strengthens bone, may also be used to help reduce bone pain.
Prognosis[edit | edit source]
The prognosis for individuals with panostotic fibrous dysplasia varies. While the condition can cause significant morbidity, it is not typically life-threatening. The quality of life and level of disability can vary widely among patients, depending on the severity of the disease and the effectiveness of management strategies.
See Also[edit | edit source]
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