What is progressive osseous heteroplasia?
Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone.
What is heterotopic bone?
Heterotopic ossification is abnormal bone formation within muscle and soft tissues, an unfortunately common phenomenon that typically occurs weeks after an injury or surgery. Patients with heterotopic ossification experience decreased range of motion, swelling and pain.
What is progressive ossification?
Progressive osseous heteroplasia (POH) is an extremely rare inherited disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification). Unlike FOP, the initial bone growth may develop on the surface of the skin (osseous plaques).
What causes POH?
Most cases of POH occur randomly as the result of a spontaneous (sporadic) genetic change (new mutation) of the GNAS gene. However, this mutation can also be inherited from a parent and follow autosomal dominant inheritance.
How common is poh?
Progressive osseous heteroplasia (POH) is a very rare condition. A rare disease is a disease or condition affecting fewer than 200,000 persons in the United States. Reportedly, as of 2002, approximately 40 patients had been identified worldwide.
Is heterotopic ossification hereditary?
The usual presentations in genetic disorders of heterotopic ossificans are multiple bony hard lesions in soft tissues in childhood. There are two distinct genetic forms of heterotopic bone formation: Fibrodysplasia ossificans progressiva (FOP) and Progressive Ossific Heteroplasia3 (POH).
What is the disease that turns muscle to bone?
Fibrodysplasia ossificans progressiva is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement.
What is poh skin?
Progressive osseous heteroplasia (POH) is a progressive bone disorder in which bone forms (ossifies) within skin and muscle tissue . It usually becomes apparent in infancy with skin (cutaneous) ossification, which progresses to involvement of subcutaneous and deep tissues, including muscle.
What does the name pOH mean?
German (Palatine): from a dialect word for standard German Pfau ‘peacok’, a nickname for a vain person or for someone with a strutting gait.