Bloom

Bloom Syndrome

Bloom Syndrome (pronounced: /bluːm/), 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. The term "Bloom Syndrome" is derived from the name of the American dermatologist David Bloom, who first described the condition in 1954.

Definition

Bloom Syndrome is a disorder that is present from birth and affects many parts of the body. Individuals with this condition are smaller than average and often have a characteristic facial appearance with a long, narrow face and prominent nose. They also have an increased risk of developing various types of cancer.

Symptoms

The symptoms of Bloom Syndrome can vary but often include:

• Short stature
• Sun-sensitive skin changes
• Increased risk of cancer
• Diabetes
• Infertility
• Learning disabilities
• Chronic obstructive pulmonary disease (COPD)

Causes

Bloom Syndrome is caused by mutations in the BLM gene, which provides instructions for making a protein that is involved in DNA repair. This condition is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

Diagnosis

Diagnosis of Bloom Syndrome is based on clinical features, laboratory testing, and genetic testing. The diagnosis can be confirmed by finding a mutation in both copies of the BLM gene.

Treatment

There is currently no cure for Bloom Syndrome. Treatment is supportive and based on the symptoms in each individual. This may include regular medical surveillance for cancer, sun protection, and management of diabetes and COPD.

Prognosis

The prognosis for individuals with Bloom Syndrome varies. Many individuals with this condition have a shortened lifespan due to the increased risk of cancer.

See Also

• Genetic disorders
• Cancer
• DNA repair

External links

• Medical encyclopedia article on Bloom
• Wikipedia's article - Bloom

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