Research on Epidermolysis Bullosa
article syndicated from NIAMS
updated about 1 year ago
This booklet is for people who have epidermolysis bullosa (ep-ee-der-MOL-eh-sis bull-O-sa, often called "EB"), parents and caregivers of children with EB, and others interested in learning more about the disease. The booklet describes the disease and its symptoms and contains information about diagnosis and treatment, as well as current research efforts supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and other components of the Department of Health and Human Services' National Institutes of Health (NIH). It also discusses issues such as skin care and quality of life for people with EB. If you have questions after reading this booklet, you may wish to discuss them with your doctor or a dermatologist (a specialist in treating skin conditions).
What Is the Value of Genetic Counseling?
Epidermolysis bullosa is a difficult, sometimes painful, and often disfiguring disease. Most adults with signs of EB or who know they carry the gene would like to spare future generations, including their own potential offspring, from this condition. With the knowledge of specific gene mutations that cause EB, it is now possible to determine the specific gene mutation in the family and then to conduct prenatal tests on pregnant women with a fetus at risk of EB to determine the status of the fetus. Specific laboratories, such as the one affiliated with the Dystrophic Epidermolysis Bullosa Research Association (DebRA), can test for gene mutations. (See resource list at the back of this booklet.) Also, a genetic counselor can provide information on the likelihood of passing the gene for EB to children and provide advice on future childbearing. Genetic counseling can be a crucial step in helping families make decisions about their family planning.
What Research Is Being Conducted on Epidermolysis Bullosa?
At one time, research on EB was limited to describing the disease and understanding what happens in the layers of skin. Today, research focuses upon 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.
Some researchers are aiming their sights on future gene therapy. They are developing mouse models to detect the involvement of different tissues in EB and to test the delivery of modified cells to genetically altered mice that have EB traits. While scientists have already been able to achieve genetic correction of some human genetic skin diseases, they have not been able to sustain the results beyond a few weeks or months. Therefore, they are working to achieve long-lasting corrective gene delivery that can be used as a springboard for further gene therapy trials in humans.
In Dystrophic EB, the fibrils that anchor the epidermis to the underlying dermis are either absent or do not function well. Scientists are introducing a gene for absent collagen (type VII) into cultured keratinocytes and fibroblasts (types of skin cells) obtained from patients whose cells cannot make the protein. It is hoped that the gene-corrected cells eventually can be transplanted back into the patients to promote and sustain the formation of anchoring fibrils.
Applying newer diagnostic techniques, investigators are beginning to link specific gene defects with the protein problems they produce. Now that the EB-causing gene mutations can be identified, there is a way that ova (eggs) that do not contain an abnormal gene can be selected for in vitro fertilization outside the body, thus improving the chances of having healthy children in families with the EB gene.
Researchers are also assessing the effectiveness of using proteins called cytokines and new kinds of dressings to heal blister wounds.
What Is the Epidermolysis Bullosa Registry and What Does It Do?
The National EB Registry collects information from patients with EB, characterizes the many different forms of EB, and determines risks of various symptoms associated with the disease. The information is used for research to improve understanding and provide better treatment of EB. The registry also provides initial diagnostic testing of patients.
The National EB Registry:
Jo-David Fine, M.D., M.P.H.
National EB Registry
c/o Dermatology Associates of Kentucky
250 Fountain Court
Lexington, KY 40509
Phone: 859-363-4444
Fax: 859-254-1814
E-mail: ebregistry@daklex.com
http://www.daklex.com
NIH Publication No. 03-7038 - Publication Date: June 2003
Acknowledgments:
The NIAMS gratefully acknowledges the assistance of Jo-David Fine, M.D., M.P.H., National EB Registry, Lexington, Kentucky; Martin I. Hassner, DebRA; Alan N. Moshell, M.D., NIAMS, NIH; Amy S. Paller, M.D., Children's Memorial Hospital, Chicago, Illinois; Jouni J. Uitto, M.D., Ph.D., Thomas Jefferson University, Philadelphia, Pennsylvania; and David T. Woodley, M.D., Los Angeles County/University of Southern California Medical Center, Los Angeles, California, in the preparation of this booklet.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health (NIH)
9000 Rockville Pike
Bethesda, Maryland 20892
