Bloom syndrome

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Bloom Syndrome

Bloom syndrome (pronounced /bluːm ˈsɪndroʊm/), also known as Bloom-Torre-Machacek syndrome, is a rare genetic disorder characterized by short stature, sun-sensitive skin changes, an increased risk of cancer, and other health problems.

Etymology

The condition is named after American dermatologist David Bloom, who first described it in 1954. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms."

Symptoms

People with Bloom syndrome often have a distinctive facial appearance, which includes a long, narrow face, a small lower jaw, and prominent nose and ears. They may also have a high-pitched voice and distinctive skin changes, including a redness of the skin (erythema) that occurs in a butterfly pattern over the nose and cheeks. The skin changes are often sensitive to the sun (photosensitivity).

Causes

Bloom syndrome is caused by mutations in the BLM gene. This gene provides instructions for making a protein that is involved in maintaining the structure and integrity of DNA. When the BLM gene is mutated, the protein it produces is unstable and quickly breaks down, leading to the health problems associated with Bloom syndrome.

Diagnosis

Diagnosis of Bloom syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the BLM gene.

Treatment

There is currently no cure for Bloom syndrome. Treatment is supportive and based on the signs and symptoms present in each person. This may include regular medical surveillance for cancer and other health problems, as well as interventions to manage specific symptoms.

Related Terms

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