Osteopathia striata
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:
- Pain in the bones
- Deformity of the bones
- Fractures
- Hearing loss due to cranial sclerosis
- Vision problems due to cranial sclerosis
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:
- Pain management
- Physical therapy to improve mobility and strength
- Surgery to correct bone deformities or fractures
- Hearing aids or cochlear implants for hearing loss
- Vision therapy or surgery for vision problems
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