Epidermolysis bullosa
| Epidermolysis bullosa | |
|---|---|
| Specialty | Medical genetics  |
Epidermolysis Bullosa (EB) is a rare genetic disease characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. The condition was brought to public attention in the UK through the Channel 4 documentary The Boy Whose Skin Fell Off, chronicling the life and death of English sufferer Jonny Kennedy.
Layman's terms
The skin has two layers; the outer layer is called the epidermis and the inner layer the dermis. In normal individuals, there are "anchors" between the two layers that prevent them from moving independently from one another. In people born with EB, the two skin layers lack the anchors that hold them together, and any action that creates friction between the layers (like rubbing or pressure) will create blisters and painful sores. Sufferers of EB have compared the sores to third-degree burns.[1]
"Butterfly Children" is a term often used to describe younger patients because the skin is said to be as fragile as a butterfly’s wings.[2]
Children with the condition have also been described as "Cotton Wool Babies". [3][4]
And in South America, "Crystal Skin Children" is the term used. [5]
Epidemiology
An estimated 50 in 1 million live births are diagnosed with EB, and 9 in 1 million are in population. Of these cases, approximately 92% are EBS, 5% are DEB, 1% are JEB, and 2% are unclassified. Carrier frequency ranges from 1 in 333 for Junctional, to 1 in 450 for Dystrophic. Carrier frequency for Simplex is not indicated in this article, but is presumed to be much higher than JEB or DEB.
The disorder occurs in every racial and ethnic group throughout the world and affects both sexes. [6][7]
Current clinical research at the University of Minnesota has included a bone marrow transplant to a 2-year-old child who is one of 2 brothers with EB. The procedure was successful, strongly suggesting that a cure may have been found. A second transplant has also been performed on the child's older brother, and a third transplant is scheduled for a California baby. The clinical trial will ultimately include transplants to 30 subjects.[8]
References
- ^ Mary E. O'Brien, M.D. "Caroline". The Columbia Observer. Retrieved 2008-07-22.
- ^ Roddy Isles, Head of Press (2005-05-12). "Dundee Scientists on road to cure for "Butterfly Children" condition". University of Dundee. Retrieved 2008-07-22.
- ^ Suellen Hinde, Health reporter (2006-11-26). "Little girl's life of pain". HeraldSun.com.au. Retrieved 2008-07-22.
- ^ By Robyn Gobert, Past President of DEBRA Australia Inc. (2002). "Times change - A family's story about living with EB". e-bility.com. Retrieved 2008-07-22.
{{cite web}}: Unknown parameter|month=ignored (help) - ^ Gena Brumitt Gruschovnik, DEBRA International Executive Committee. "DEBRA Chile website".
- ^ M Peter Marinkovich, MD, Associate Professor, Department of Dermatology and Program in Epithelial Biology, Stanford University Medical Center (December 3, 2007). "Epidermolysis Bullosa". Bullous Diseases. emedicine.com. Retrieved 2008-07-22.
{{cite web}}: Unknown parameter|coauthors=ignored (|author=suggested) (help)CS1 maint: multiple names: authors list (link) - ^ Ellen Pfendner, Jouni Uitto and Jo-David Fine (2000-11-07). "Epidermolysis Bullosa Carrier Frequencies in the US Population". Journal of Investigative Dermatology. nature.com. Retrieved 2008-07-22.
- ^ Josephine Marcotty (2008-07-03). "Long-shot stem-cell treatment gives two brothers a future". Star Tribune. Retrieved 2008-07-22.
External links
- DebRA - the Dystrophic Epidermolysis Bullosa Research Association of America
- DebRA - UK site. There are similar sites in Canada, Australia, New Zealand and Ireland to find more local information and support.
- ebs at NIH/UW GeneTests
- Stanford EB Research Update posted via the EB Medical Research Foundation