Hereditary multiple exostoses

Hereditary Multiple Exostoses

Hereditary Multiple Exostoses (HME) (pronunciation: hɛrɪˈdɛtəri mʌltɪpl ɛkˈstoʊsiːz), also known as Multiple Osteochondromas, is a medical condition characterized by the development of multiple benign bone tumors that are covered by cartilage.

Etymology

The term "Hereditary Multiple Exostoses" is derived from the following roots: "Hereditary" (from the Latin word "hereditarius" meaning "of inheritance"), "Multiple" (from the Latin word "multiplus" meaning "manifold"), and "Exostoses" (from the Greek words "ex" meaning "out of" and "osteon" meaning "bone").

Definition

Hereditary Multiple Exostoses is a genetic disorder that causes the growth of multiple, noncancerous bone tumors called exostoses. These tumors can cause pain, nerve compression, growth disturbances, and skeletal deformities.

Symptoms

The most common symptoms of HME include:

• Bone deformities
• Short stature
• Pain
• Limited motion
• Nerve compression

Causes

HME is caused by mutations in the EXT1 or EXT2 genes. These genes provide instructions for producing an enzyme that is involved in the development and maintenance of the skeleton.

Diagnosis

Diagnosis of HME is based on a physical examination, patient history, and imaging tests such as X-ray or MRI. Genetic testing can also be used to confirm the diagnosis.

Treatment

Treatment for HME is focused on managing symptoms and may include pain management, physical therapy, and in some cases, surgery to remove the exostoses or correct bone deformities.

Prognosis

The prognosis for individuals with HME varies. Some people may experience few symptoms, while others may have significant physical disabilities.

See Also

• Genetic disorder
• Bone tumor
• Cartilage

External links

• Medical encyclopedia article on Hereditary multiple exostoses
• Wikipedia's article - Hereditary multiple exostoses

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