Bloom syndrome is a relatively rare disease that is transmitted from parent to child as an autosomal-recessive. This syndrome is a very difficult type of disease, a life expectancy of people with Bloom syndrome rarely surpases 20 years.
The Bloom syndrome mainly characterized by hypersensitivity to sunlight, especially to ultraviolet radiation. Besides hypersensitivity to sunlight, at the people with Bloom syndrome, a weakness of the immune system is noticed and becoming severe over the years, so that people often suffer from various tumourous changes in tissues.
People with this syndrome are characterized mainly by a thin voice, sharp nose and short stature. Often have mild to moderate mental retardation and various facial changes, as well as an irregularly shaped head.
various skin changes are also noticable as visible enlargement of blood vessels, hyperpigmentation of certain parts of the skin and blemishes on certain parts of your body like a coffee stain.
These people, as mentioned, over the life develop severe immunodeficiency which makes the organism susceptible to various influences from outside, infections, tumors ...
People with Bloom syndrome are usually infertile and have hypogonadism. Cancers occur mostly in the gastrointestinal tract.