Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare genetic disorder that affects the skeletal system. It is characterized by excessive bone formation, particularly in the long bones of the arms and legs.
Individuals with Camurati-Engelmann disease may experience various symptoms, including bone pain, muscle weakness, and fatigue. The excessive bone growth can lead to limb deformities, such as bowing of the legs, and restricted movement. In some cases, it may also affect the skull, causing facial abnormalities and vision or hearing problems.
This condition is caused by mutations in the TGFβ1 gene, which plays a role in regulating bone growth and development. The exact mechanism behind the excessive bone formation is not fully understood.
Treatment for Camurati-Engelmann disease focuses on managing symptoms and may include pain relief medications, physical therapy, and orthopedic interventions. In severe cases, surgery may be necessary to correct bone deformities or relieve pressure on affected nerves.
Camurati-Engelmann disease is a lifelong condition, and its severity can vary among individuals. Early diagnosis and appropriate management can help improve quality of life and minimize complications.