Progressive osseous heteroplasia
Progressive Osseous Heteroplasia
Progressive osseous heteroplasia (POH) is a rare medical condition characterized by the formation of bone in areas of the body where bone is not normally found. The condition is progressive, meaning it worsens over time.
Pronunciation
Progressive osseous heteroplasia is pronounced as pro-gres-iv os-ee-us het-er-o-pla-zia.
Etymology
The term "progressive osseous heteroplasia" is derived from the Latin words "progressus" meaning "advance", "osseus" meaning "bony", and "heteroplasia" meaning "abnormal growth".
Symptoms
The symptoms of progressive osseous heteroplasia typically begin in infancy or early childhood. They include hardening of the skin (dermal ossification), pain, limited mobility, and bone formation in muscle and fat tissue (heterotopic ossification).
Causes
Progressive osseous heteroplasia is caused by mutations in the GNAS gene. This gene provides instructions for making a protein that helps regulate cell growth and division.
Diagnosis
Diagnosis of progressive osseous heteroplasia is based on a physical examination, medical history, and imaging tests such as X-rays and CT scans. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for progressive osseous heteroplasia. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, pain management, and surgery to remove excess bone.
Related Terms
See Also
External links
- Medical encyclopedia article on Progressive osseous heteroplasia
- Wikipedia's article - Progressive osseous heteroplasia
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