Bloom Syndrome Presentation

Bloom Syndrome Presentation

Created by Jonathan Perkins

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Physical Effects on Humans

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*Broken spidery veins and redness of the skin and face

*Cheilitis (swelling of the lips) with crusting or bleeding

*Long limbs, particularly long arms in proportion to body length

*Disproportionately large hands and feet

*Men with Bloom syndrome are sterile

*Women have reduced fertility and a shortened reproductive span

Sources

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Medical Research and Treatments

What is Bloom Syndrome?

Emotional and Mental Effects

*Learning disabilities

*An increased risk of diabetes

*Chronic obstructive pulmonary disease (COPD)

*Mild immune system abnormalities, which leads to recurrent infections of the upper respiratory tract, ears, and lungs during infancy

*There is no cure for Bloom's Syndrome.

*Children with Bloom syndrome need nutritional monitoring to ensure maximum growth.

*People with the disease are advised to stay out of the sun and wear sunscreen, particularly during childhood, to prevent skin lesions.

*Experiments with growth hormones in Bloom patients have been unsuccessful. Mainly because it increases the risk of cancer.

*In school, they may require special education classes due to learning difficulties.

*Bloom syndrome is an inherited disorder that occurs in chromosome 15

*Caused by mutations in the BLM gene.

*It is typically characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.

"DermNet New Zealand." Bloom Syndrome. N.p., n.d. Web. 14 Nov. 2016.

"Bloom Syndrome - Genetics Home Reference." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 14 Nov. 2016.

"BLOOM'S SYNDROME SUMMARY." BLOOM'S SYNDROME SUMMARY. N.p., n.d. Web. 15 Nov. 2016.

"Bloom Syndrome." BloomSyndrome - Home. N.p., n.d. Web. 15 Nov. 2016.

"Bloom Syndrome." Counsyl. N.p., n.d. Web. 15 Nov. 2016.

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Who Discovered It

Mutation Details

*Bloom Syndrome was first discovered by David Bloom in 1954.

*The disease is currently very rare but it is found mostly in people of Central and Eastern European and Jewish backgrounds.

*The first results were taken in 1966 where Dr. Bloom took twenty- seven patients that he felt had acquired the disease and by the three observations that he determined were part of the disease.

*In the infected patients, none of the parents showed symptoms of the disease, making them carriers. In his study, he found that almost all the patients were of Eastern European decent.

*BLM gene mutations result in the absence of BLM protein.

*As a result, the sister chromatid exchange is about 10 times higher than average.

*Exchange of DNA between chromosomes from the person's parents are also increased in people with BLM gene mutations.

*Chromosome breakage occurs more in affected people. All of these changes are because of the gaps and breaks in the genetic material that damages normal cell activities and cause health problems

*Without the BLM protein, the cell is less able to repair DNA damage caused by ultraviolet light, which results in increased sun sensitivity.

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