Osteopathia striata

From WikiMD's Wellness Encyclopedia

Osteopathia striata is a rare condition characterized by linear striations in the long bones and pelvis visible on x-ray. The condition is often associated with cranial sclerosis, a condition that leads to abnormal hardening of the skull bones.

Symptoms[edit | edit source]

The symptoms of osteopathia striata can vary greatly from person to person. Some individuals may have no symptoms at all, while others may experience:

Causes[edit | edit source]

Osteopathia striata is caused by mutations in the AMER1 gene. This gene provides instructions for making a protein that is involved in the regulation of a signaling pathway known as the Wnt pathway. The Wnt pathway plays a critical role in the formation and development of bones and other tissues.

Diagnosis[edit | edit source]

Diagnosis of osteopathia striata is typically made through a combination of clinical examination and imaging studies. X-rays are often used to identify the characteristic linear striations in the bones. Genetic testing may also be performed to confirm the diagnosis.

Treatment[edit | edit source]

There is currently no cure for osteopathia striata. Treatment is focused on managing the symptoms and preventing complications. This may include:

Prognosis[edit | edit source]

The prognosis for individuals with osteopathia striata varies depending on the severity of the symptoms. Some individuals may have a normal lifespan with few complications, while others may experience significant disability and health problems.

See also[edit | edit source]

Osteopathia striata Resources
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Contributors: Prab R. Tumpati, MD