What is Progressive Osseous Heteroplasia

Progressive Osseous Heteroplasia (POH) is a rare genetic disorder characterized by the abnormal formation of bone in soft tissues such as muscles, tendons, and ligaments. It is a progressive condition, meaning it worsens over time.

POH is caused by a mutation in the GNAS gene, which leads to the production of a faulty protein that disrupts the normal bone formation process. As a result, bone tissue starts to develop in areas where it shouldn't, causing pain, limited mobility, and deformities.

POH typically begins in early childhood and progresses gradually. The heterotopic bone formation can affect various parts of the body, including the skin, subcutaneous tissues, and deep connective tissues. This condition is often associated with skin abnormalities, such as patches of pigmented skin or subcutaneous nodules.

Unfortunately, there is currently no cure for POH. Treatment mainly focuses on managing symptoms and preventing complications. Physical therapy, pain management strategies, and surgical interventions may be employed to improve quality of life and address specific issues caused by the abnormal bone growth.