Osteopathia striata: Difference between revisions
From WikiMD's Wellness Encyclopedia
CSV import |
CSV import |
||
| (2 intermediate revisions by the same user not shown) | |||
| Line 1: | Line 1: | ||
{{Infobox medical condition | |||
| name = Osteopathia striata | |||
| synonyms = [[Voorhoeve disease]] | |||
| field = [[Orthopedics]], [[Radiology]] | |||
| symptoms = [[Linear striations]] in [[long bones]], [[pelvis]], [[scapulae]] | |||
| complications = None typically associated | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Radiographic imaging]] | |||
| differential = [[Osteopathia striata with cranial sclerosis]], [[Melorheostosis]], [[Osteopoikilosis]] | |||
| treatment = [[Symptomatic treatment]] | |||
| prognosis = Generally [[benign]] | |||
| frequency = Rare | |||
}} | |||
'''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. | '''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 == | == Symptoms == | ||
The symptoms of osteopathia striata can vary greatly from person to person. Some individuals may have no symptoms at all, while others may experience: | 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 | * [[Pain]] in the bones | ||
* [[Deformity]] of the bones | * [[Deformity]] of the bones | ||
| Line 10: | Line 24: | ||
* [[Hearing loss]] due to cranial sclerosis | * [[Hearing loss]] due to cranial sclerosis | ||
* [[Vision problems]] due to cranial sclerosis | * [[Vision problems]] due to cranial sclerosis | ||
== Causes == | == Causes == | ||
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. | 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 == | == Diagnosis == | ||
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. | 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 == | == Treatment == | ||
There is currently no cure for osteopathia striata. Treatment is focused on managing the symptoms and preventing complications. This may include: | There is currently no cure for osteopathia striata. Treatment is focused on managing the symptoms and preventing complications. This may include: | ||
* [[Pain management]] | * [[Pain management]] | ||
* [[Physical therapy]] to improve mobility and strength | * [[Physical therapy]] to improve mobility and strength | ||
| Line 28: | Line 35: | ||
* [[Hearing aids]] or [[cochlear implants]] for hearing loss | * [[Hearing aids]] or [[cochlear implants]] for hearing loss | ||
* [[Vision therapy]] or surgery for vision problems | * [[Vision therapy]] or surgery for vision problems | ||
== Prognosis == | == Prognosis == | ||
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. | 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 == | == See also == | ||
* [[Bone disease]] | * [[Bone disease]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[AMER1]] | * [[AMER1]] | ||
* [[Wnt signaling pathway]] | * [[Wnt signaling pathway]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Bone diseases]] | [[Category:Bone diseases]] | ||
{{stub}} | {{stub}} | ||
{{No image}} | |||
Latest revision as of 05:59, 4 April 2025
| Osteopathia striata | |
|---|---|
| Synonyms | Voorhoeve disease |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Linear striations in long bones, pelvis, scapulae |
| Complications | None typically associated |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Radiographic imaging |
| Differential diagnosis | Osteopathia striata with cranial sclerosis, Melorheostosis, Osteopoikilosis |
| Prevention | N/A |
| Treatment | Symptomatic treatment |
| Medication | N/A |
| Prognosis | Generally benign |
| Frequency | Rare |
| Deaths | N/A |
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]
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]
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]
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]
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]
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.
