lunes, 5 de marzo de 2012

Hope For E.B. Kids: Stem Cells Fight Fatal Skin Disease | Medical News and Health Information

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Hope For E.B. Kids: Stem Cells Fight Fatal Skin Disease | Medical News and Health Information

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Hope For E.B. Kids: Stem Cells Fight Fatal Skin Disease -- Research Summary

BACKGROUND: Epidermolysis Bullosa (EB) is a rare genetic disorder that makes the skin so fragile that the slightest friction causes blisters and skin tears due to lack of collagen in the skin. EB is usually noticeable shortly after birth or detected early on in a child’s life. If children with EB do not die of infection early on in life, many with the disease do not live beyond their 20s or 30s. EB can lead to an aggressive form of skin cancer. It is estimated that up to 12,000 people in the United States have some form of EB. The eyes, mouth, throat, and other internal organs are also affected by this disease. EB is not limited to any ethnic group or gender. In some countries, even euthanasia has been considered for newborns with the severest forms. While children will live long term, the severest forms of EB are generally lethal. Until recently there was no treatment and no chance for cure. (SOURCES:,,

SYMPTOMS: The major sign of all forms of EB is fragile skin that blisters. Other symptoms are loss of fingernails and toenails, excessive sweating, difficulty swallowing, and redness of the skin. The skin blistering and tearing can lead to serious complications. Skin cancers can eventually form from the blistering and tearing. EB also occurs internally and can lead to nutritional problems and many other complications.(SOURCE:

CAUSES: Most people with EB have inherited the condition through faulty genes they received from one or both parents. Genes are located in the body’s cells and determine inherited traits passed from parent to child. They also govern every body function, such as the formation of proteins in the skin. More than 10 genes are known to cause the different forms of EB. It's also possible to develop Epidermolysis Bullosa as a result of a random mutation in a gene that occurred during the formation of an egg or sperm cell. (SOURCE:

PREVENTING BLISTERS: In most forms of EB, blisters will form with the slightest pressure or friction. You can help to avoid blistering by keeping rooms at a cool temperature. It is important to apply lubricants to the skin to reduce friction and keep the skin moist. Use soft clothing that requires minimal handling when dressing a child. Avoid carrying a child with EB, especially from under the armpits. Using sheepskin on car seats and other hard surfaces will provide softness for the skin. To help prevent scratching a child can wear mittens at bedtime. (SOURCE:,

NEW TREATMENT: At one time, research on EB was limited to describing the disease and understanding what happens in the layers of skin. Today, research focuses on finding gene mutations and their effect on the tissues, copying genes, reproducing gene mutations for research to correct them, inserting healthy genes to replace missing or mutated genes, and screening those who may have a gene mutation causing EB.
University of Minnesota Physician-researchers John E. Wagner, M.D., and Jakub Tolar, M.D., Ph.D., have for the first time used stem cells from bone marrow to repair the skin of patients with a fatal skin disease with EB. "What we have found is that stem cells contained in bone marrow can travel to sites of injured skin, leading to increased production of collagen which is deficient in patients with EB." Tolar was quoted as saying. SOURCE:,, MORE

Jakub Tolar, MD, PhD
University of Minnesota
(612) 625-2912

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Hope For E.B. Kids: Stem Cells Fight Fatal Skin Disease -- Doctor's In Depth Interview | Medical News and Health Information

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