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NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Thursday, February 9, 2012
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NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Thursday, February 9, 2012
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Inherited Disorders and Birth Defects |
Epidermolysis Bullosa12/20/1999 |
Where can I find the most up to date information on Epidermolysis Bullosa? What information can you provide?
Epidermolysis bullosa is a group of inherited diseases that affect the skin and mucous membranes - which are so fragile, when touched, cause the skin to blister and scar in some cases.
There are many different types of EB. The different types of EB can be inherited in different ways - either as an autosomal dominant disorder or as an autosomal recessive disorder. In the dominant forms, you only need one gene coding for EB to cause the disease. Anyone having the gene would have a 50% chance of passing that gene on to any of their children. In the recessive form, you need two abnormal genes. Parents are carriers and have a 25% chance of both passing the gene on to a child at the same time.
Many genes causing EB have been identified. There is still no cure. There are many research projects looking into new treatments such as using a bioengineered skin product for patients with EB.
There is an excellent web site called Dystrophic Epidermolysis Bullosa Research Association of America. You can get to it at the web site below. It has an excellent description of the disorder and provides lots of information about the newest research.
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Anne Matthews, RN, PhD Associate Professor of Genetics Department of Genetics School of Medicine Case Western Reserve University |
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