Monostotic fibrous dysplasias are rare bone disorders characterized by the abnormal growth of fibrous tissue in a single bone. The condition primarily affects children and adolescents but can also occur in adults. The term "monostotic" refers to the involvement of only one bone, distinguishing it from polyostotic fibrous dysplasias, which involve multiple bones.
This disorder occurs due to a genetic mutation in the GNAS1 gene, responsible for regulating bone growth and development. The mutation leads to an overproduction of fibrous tissue, which replaces the normal bone structure, resulting in weakened and structurally abnormal bones. Monostotic fibrous dysplasias commonly affect long bones, such as the femur or tibia, but can also occur in the skull, jaw, ribs, or other bones.
Symptoms of monostotic fibrous dysplasias vary depending on the location and extent of the abnormal bone growth. Common manifestations include bone pain, deformities, fractures, or an increased risk of fractures. In some cases, individuals may also experience complications such as vision or hearing impairment, neurological problems, or endocrine disturbances.
Diagnosis of this condition involves a thorough evaluation of the patient's symptoms, medical history, and imaging studies, such as X-rays or bone scans. Genetic testing may also be performed to confirm the presence of the GNAS1 gene mutation.
Treatment options for monostotic fibrous dysplasias focus on managing symptoms and preventing complications. This may include pain management, physical therapy, or surgical interventions to stabilize fractures or correct deformities. Regular monitoring and follow-up care are essential to ensure optimal bone health and prevent further complications.
