Epidermolysis bullosa

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.

Forms

There are three main forms of inherited EB. These different subtypes are defined by the depth of blister location within the skin layers, and the location of the dissolution of the skin.

EB Simplex (EBS) -- above the basement membrane

:"See main article at Epidermolysis Bullosa simplex."Blister formation of EB Simplex is within the basal keratinocyte of the epidermis. Sometimes EB simplex is called "epidermolytic". There are four subtypes of EBS:

# EBS - Weber-Cockayne (EBS-WC)
# EBS - Koebner (EBS-K)
# EBS - Dowling-Meara (EBS-DM) -- caused by missense mutation in KRT5 (E477K) or one of two missense mutations in KRT14 (R125C and R125H)
# EBS - Mottled Pigmentation (EBS-MP) - caused by one missense mutation in KRT5 (I161S) or by missense mutations in the plectin gene (Koss-Harnes et al., 1997;Koss-Harnes et al., 2002).

Junctional EB (JEB) -- through the basement membrane

Condition characterized by spontaneous blistering of the skin and mucous membranes at the level of the lamina lucida within the basement membrane zone.Condition is caused by defects in the structures of laminin 5, laminin systems.

Dystrophic EB (DEB) -- under the basement membrane

:"See main article at Epidermolysis Bullosa dystrophica."Dystrophic EB (DEB) forms which can lead to scarring occur in a deeper tissue level; the sub-lamina densa region (the beneath the lamina densa) within the upper dermis.

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. [cite web |url=http://www.columbia.edu/cu/observer/issues/2004Fall/nonfic/Caroline.html |title=Caroline |accessdate=2008-07-22 |author=Mary E. O'Brien, M.D. |publisher=The Columbia Observer ]

"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. [cite web |url=http://www.dundee.ac.uk/pressreleases/prmay05/butterfly.html |title=Dundee Scientists on road to cure for "Butterfly Children" condition |accessdate=2008-07-22 |author=Roddy Isles, Head of Press |date=2005-05-12 |publisher=University of Dundee]

Children with the condition have also been described as "Cotton Wool Babies". [cite web |url=http://www.news.com.au/heraldsun/story/0,21985,20819799-2862,00.html |title=Little girl's life of pain |accessdate=2008-07-22 |author=Suellen Hinde, Health reporter |date=2006-11-26 |publisher=HeraldSun.com.au] [cite web |url=http://www.e-bility.com/articles/eb_intro.php |title=Times change - A family's story about living with EB |accessdate=2008-07-22 |author=By Robyn Gobert, Past President of DEBRA Australia Inc. |year=2002 |month=May |publisher=e-bility.com]

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. [cite web |url=http://www.emedicine.com/DERM/topic124.htm |title=Epidermolysis Bullosa |accessdate=2008-07-22 |author=M Peter Marinkovich, MD, Associate Professor, Department of Dermatology and Program in Epithelial Biology, Stanford University Medical Center |coauthors=Jean Paul Ortonne, MD, Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France; Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center; Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center; Joel M Gelfand, MD, MSCE, Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania; William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System |date=Dec 3, 2007 |work=Bullous Diseases |publisher=emedicine.com] [cite web |url=http://www.nature.com/jid/journal/v116/n3/full/5601019a.html |title=Epidermolysis Bullosa Carrier Frequencies in the US Population |accessdate=2008-07-22 |author=Ellen Pfendner, Jouni Uitto and Jo-David Fine |date=2000-11-07 |work=Journal of Investigative Dermatology |publisher=nature.com]

Current clinical research at the University of Minnesota has included a bone marrow transplant to a 2-year-old child who one of 2 brothers with EB. The proceedure 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. [cite web |url=http://www.startribune.com/lifestyle/health/19471139.html |title=Long-shot stem-cell treatment gives two brothers a future |accessdate=2008-07-22 |author=Josephine Marcotty |date=2008-07-03 |publisher=Star Tribune]

References

External links

* [http://www.debra.org/ DebRA] - the Dystrophic Epidermolysis Bullosa Research Association of America
* [http://www.debra.org.uk/ DebRA] - UK site. There are similar sites in Canada, Australia, New Zealand and Ireland to find more local information and support.
*
* [http://www.ebkids.org/researchupdate.html Stanford EB Research Update] posted via the EB Medical Research Foundation