Hereditary multiple exostoses

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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 | 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]


Hereditary multiple exostoses Resources

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