Hereditary multiple exostoses
(Redirected from Multiple osteochondromatosis)
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 | edit source]
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 | edit source]
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 | edit source]
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 | edit source]
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 | edit source]
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 | edit source]
References[edit | edit source]
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