Hereditary multiple exostoses: Difference between revisions
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{{Infobox medical condition | |||
| name = Hereditary multiple exostoses | |||
| image = [[File:EXT4.jpg|left|thumb]] | |||
| caption = X-ray of a patient with hereditary multiple exostoses | |||
| synonyms = Diaphyseal aclasis, Multiple osteochondromas | |||
| pronounce = | |||
| specialty = [[Orthopedics]], [[Genetics]] | |||
| symptoms = Multiple bony growths, limb deformities, restricted movement | |||
| complications = Malignant transformation, nerve compression | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| types = | |||
| causes = [[Genetic mutation]] in [[EXT1]], [[EXT2]], or [[EXT3]] genes | |||
| risks = Family history | |||
| diagnosis = [[Clinical examination]], [[X-ray]], [[Genetic testing]] | |||
| differential = [[Ollier disease]], [[Metachondromatosis]] | |||
| prevention = None | |||
| treatment = [[Surgery]] for symptomatic lesions | |||
| medication = Pain management | |||
| prognosis = Generally good, but risk of complications | |||
| frequency = 1 in 50,000 | |||
| deaths = Rare | |||
}} | |||
[[File:EXT_(1).jpg|left|thumb|Hereditary multiple exostoses]] | |||
[[File:EXT_(2).jpg|left|thumb|Hereditary multiple exostoses]] | |||
[[File:Multiple_osteochondromas_around_the_knee.jpg|thumb|Multiple osteochondromas around the knee]] | |||
[[File:Bone_growth_after_hip_replacement.png|thumb|Bone growth after hip replacement]] | |||
'''Hereditary multiple exostoses''' (HME) is a medical condition characterized by the development of multiple benign (non-cancerous) bone tumors known as exostoses. This condition is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder to each of their children. | '''Hereditary multiple exostoses''' (HME) is a medical condition characterized by the development of multiple benign (non-cancerous) bone tumors known as exostoses. This condition is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder to each of their children. | ||
== Symptoms == | == Symptoms == | ||
The most common symptom of HME is the presence of multiple exostoses, which are often noticeable by early childhood. These exostoses can cause a variety of complications, including skeletal deformities, limited range of motion, and occasional pain. In rare cases, an exostosis may become malignant (cancerous). | The most common symptom of HME is the presence of multiple exostoses, which are often noticeable by early childhood. These exostoses can cause a variety of complications, including skeletal deformities, limited range of motion, and occasional pain. In rare cases, an exostosis may become malignant (cancerous). | ||
== Causes == | == Causes == | ||
HME is caused by mutations in one of two genes: [[EXT1]] or [[EXT2]]. These genes are involved in the formation of heparan sulfate, a molecule that plays a critical role in the development and growth of bones. | HME is caused by mutations in one of two genes: [[EXT1]] or [[EXT2]]. These genes are involved in the formation of heparan sulfate, a molecule that plays a critical role in the development and growth of bones. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of HME is typically based on the presence of multiple exostoses. Genetic testing can confirm the diagnosis and identify the specific gene mutation causing the condition. | The diagnosis of HME is typically based on the presence of multiple exostoses. Genetic testing can confirm the diagnosis and identify the specific gene mutation causing the condition. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for HME. Treatment is focused on managing symptoms and may include surgery to remove exostoses that are causing complications. | There is currently no cure for HME. Treatment is focused on managing symptoms and may include surgery to remove exostoses that are causing complications. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with HME varies. Most people with the condition have a normal lifespan, but complications such as malignant transformation of an exostosis can affect prognosis. | The prognosis for individuals with HME varies. Most people with the condition have a normal lifespan, but complications such as malignant transformation of an exostosis can affect prognosis. | ||
== See also == | == See also == | ||
* [[Bone tumor]] | * [[Bone tumor]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Heparan sulfate]] | * [[Heparan sulfate]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
{{stub}} | {{stub}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Bone diseases]] | [[Category:Bone diseases]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 21:41, 26 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Hereditary multiple exostoses | |
|---|---|
 | |
| Synonyms | Diaphyseal aclasis, Multiple osteochondromas |
| Pronounce | |
| Specialty | Orthopedics, Genetics |
| Symptoms | Multiple bony growths, limb deformities, restricted movement |
| Complications | Malignant transformation, nerve compression |
| Onset | Childhood |
| Duration | Lifelong |
| Types | |
| Causes | Genetic mutation in EXT1, EXT2, or EXT3 genes |
| Risks | Family history |
| Diagnosis | Clinical examination, X-ray, Genetic testing |
| Differential diagnosis | Ollier disease, Metachondromatosis |
| Prevention | None |
| Treatment | Surgery for symptomatic lesions |
| Medication | Pain management |
| Prognosis | Generally good, but risk of complications |
| Frequency | 1 in 50,000 |
| Deaths | Rare |
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Hereditary multiple exostoses (HME) is a medical condition characterized by the development of multiple benign (non-cancerous) bone tumors known as exostoses. This condition is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder to each of their children.
Symptoms[edit]
The most common symptom of HME is the presence of multiple exostoses, which are often noticeable by early childhood. These exostoses can cause a variety of complications, including skeletal deformities, limited range of motion, and occasional pain. In rare cases, an exostosis may become malignant (cancerous).
Causes[edit]
HME is caused by mutations in one of two genes: EXT1 or EXT2. These genes are involved in the formation of heparan sulfate, a molecule that plays a critical role in the development and growth of bones.
Diagnosis[edit]
The diagnosis of HME is typically based on the presence of multiple exostoses. Genetic testing can confirm the diagnosis and identify the specific gene mutation causing the condition.
Treatment[edit]
There is currently no cure for HME. Treatment is focused on managing symptoms and may include surgery to remove exostoses that are causing complications.
Prognosis[edit]
The prognosis for individuals with HME varies. Most people with the condition have a normal lifespan, but complications such as malignant transformation of an exostosis can affect prognosis.
See also[edit]
References[edit]
<references />
