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:MO_CT-scan1.jpg|left|thumb|Hereditary multiple exostoses]] | |||
[[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]] | ||
Revision as of 01:06, 14 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| 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
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
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
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
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
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
References
<references />
