What is Bloom Syndrome?
(Symptoms, Causes & Treatment)
According to the U.S. National Library of Medicine, Bloom syndrome is an inherited disorder identified by short stature (people rarely exceed 5 feet tall in adulthood), a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.
Affected individuals have skin that is sensitive to sun exposure, and they often develop a butterfly-shaped patch of reddened skin across the nose and cheeks. A skin rash can also appear on other areas that are typically exposed to the sun. Small clusters of enlarged blood vessels (telangiectases) often appear in the rash and can also occur in the eyes. Other skin features include patches of skin that are lighter or darker than the surrounding areas (a condition known as hypopigmentation or hyperpigmentation respectively).
Individuals with Bloom syndrome have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; and prominent nose and ears. Other features can include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and mild immune system abnormalities leading to recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Men with Bloom syndrome usually do not produce sperm and are infertile. Women with the disorder generally have reduced fertility and experience menopause at an earlier age than usual.
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Latest Bloom Syndrome Treatment News and Research
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