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Inherited Disorders and Birth Defects

Epidermolysis Bullosa

12/20/1999 01:42PM

Question:

Where can I find the most up to date informaton on Epidermolysis Bullosa? What information can you provide?

Answer:

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 website called Dystrophic Epidermolysis Bullosa Research Association of America. You can get to it at the website below. It has an excellent description of the disorder and provides lots of information about the newest research.

Related Resources:

Dystrophic Epidermolysis Bullosa Rsearch Association of America

For more information:

Go to the Inherited Disorders and Birth Defects health topic, where you can:

Response by:

Case Western Reserve University Anne Matthews, RN, PhD
Director, Genetic Counseling and Family Studies
Associate Professor
Department of Genetics
School of Medicine
Case Western Reserve University
Anne Matthews, RN, PhD