Hereditary multiple exostoses: Difference between revisions
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[[File:EXT_(2).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: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]] | [[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. | ||
Latest revision as of 21:41, 26 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
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| 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]
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