Epidermolysis bullosa (EB) is a rare genetic disorder caused by a mutation in the keratin gene. The disorder is 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 Jonny Kennedy, an English man with EB.[1] [edit] Lay 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.[2] "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.[3] Children with the condition have also been described as "Cotton Wool Babies," [4][5] and in South America, "Crystal Skin Children" is the term used. [6] [edit] Classification  A five-year-old boy with congenital epidermolysis bullosa Epidermolysis bullosa refers to a group of inherited disorders that involve the formation of blisters following trivial trauma, and which may be divided into the following types[7][8]:596: [edit] Epidermolysis bullosa simplex -
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| OMIM | Name | Locus | Gene | | 609352 | epidermolysis bullosa simplex with migratory circinate erythema | 12q13 | KRT5 | | 131960 | epidermolysis bullosa simplex with mottled pigmentation; EBS-MP | 12q13 | KRT5 | | 601001 | epidermolysis bullosa simplex, autosomal recessive | 17q12-q21 | KRT14 | | 131900 | epidermolysis bullosa simplex, Koebner type; EBS2 | 17q12-q21, 12q13 | KRT5, KRT14 | | 131800 | epidermolysis bullosa simplex, Weber-Cockayne type | 17q12-q21, 17q11-qter, 12q13 | KRT5, KRT14 | | 131760 | epidermolysis bullosa herpetiformis, Dowling-Meara type | 17q12-q21, 12q13 | KRT5, KRT14 | | 226670 | epidermolysis bullosa simplex with muscular dystrophy | 8q24 | PLEC1 | | 612138 | epidermolysis bullosa simplex with pyloric atresia | 8q24 | PLEC1 | | 131950 | epidermolysis bullosa simplex, Ogna type | 8q24 | PLEC1 | [edit] Junctional epidermolysis bullosa -
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| OMIM | Name | Locus | Gene | | 226730 | epidermolysis bullosa junctionalis with pyloric atresia | 17q11-qter, 2q31.1 | ITGB4, ITGA6 | | 226700 | epidermolysis bullosa, junctional, Herlitz type | 18q11.2, 1q32, 1q25-q31 | LAMA3, LAMB3, LAMC2 | | 226650 | epidermolysis bullosa, junctional, non-Herlitz type | 18q11.2, 1q32, 17q11-qter, 1q25-q31, 10q24.3 | LAMA3, LAMB3, LAMC2, COL17A1, ITGB4 | [edit] Dystrophic epidermolysis bullosa -
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| OMIM | Name | Locus | Gene | | 131750 | epidermolysis bullosa dystrophica, autosomal dominant; DDEB | 3p21.3 | COL7A1 | | 226600 | epidermolysis bullosa dystrophica, autosomal recessive; RDEB | 11q22-q23, 3p21.3 | COL7A1, MMP1 | | 131850 | epidermolysis bullosa dystrophica, pretibial | 3p21.3 | COL7A1 | | 604129 | epidermolysis bullosa pruriginosa | 3p21.3 | COL7A1 | | 132000 | epidermolysis bullosa with congenital localized absence of skin and deformity of nails | 3p21.3 | COL7A1 | | 131705 | transient bullous dermolysis of the newborn; TBDN | 3p21.3 | COL7A1 | [edit] Other genetic | OMIM | Name | Locus | Gene | | 609638 | epidermolysis bullosa, lethal acantholytic | 6p24 | DSP | [edit] 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.[citation needed] The disorder occurs in every racial and ethnic group throughout the world and affects both sexes. [9][10] 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.[11] [edit] References - ^ "Series 1 - The Boy Whose Skin Fell Off". Channel 4. 2004. http://www.channel4.com/programmes/the-boy-whose-skin-fell-off/episode-guide/series-1/episode-1. Retrieved 2009-02-28.
- ^ Mary E. O'Brien, M.D.. "Caroline". The Columbia Observer. http://www.columbia.edu/cu/observer/issues/2004Fall/nonfic/Caroline.html. 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. http://www.dundee.ac.uk/pressreleases/prmay05/butterfly.html. Retrieved 2008-07-22.
- ^ Suellen Hinde, Health reporter (2006-11-26). "Little girl's life of pain". HeraldSun.com.au. http://www.news.com.au/heraldsun/story/0,21985,20819799-2862,00.html. Retrieved 2008-07-22.
- ^ By Robyn Gobert, Past President of DEBRA Australia Inc. (May 2002). "Times change - A family's story about living with EB". e-bility.com. http://www.e-bility.com/articles/eb_intro.php. Retrieved 2008-07-22.
- ^ Gena Brumitt Gruschovnik, DEBRA International Executive Committee. "DEBRA Chile website". http://www.debrachile.cl/.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ^ M Peter Marinkovich, MD, Associate Professor, Department of Dermatology and Program in Epithelial Biology, Stanford University Medical Center; 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 (December 3, 2007). "Epidermolysis Bullosa". Bullous Diseases. emedicine.com. http://www.emedicine.com/DERM/topic124.htm. Retrieved 2008-07-22.
- ^ 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. http://www.nature.com/jid/journal/v116/n3/full/5601019a.html. Retrieved 2008-07-22.
- ^ Josephine Marcotty (2008-07-03). "Long-shot stem-cell treatment gives two brothers a future". Star Tribune. http://www.startribune.com/lifestyle/health/19471139.html. Retrieved 2008-07-22.
[edit] External links - DEBRA The umbrella group, Dystrophic Epidermolysis Bullosa Research Association International - find a link to all DEBRA chapters here, now found in about 40 countries around the world.
- DEBRA The International forums project for healthcare professionals involved in the management of Epidermolysis Bullosa
- 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.
- EBAN - Epidermolysis Bullosa Action Network
- EB Info World A comprehensive website, full of information for new parents and patients. Included are stories of families, photos, memorials, how-to and much more.
- ebs at NIH/UW GeneTests
- GeneReview/NIH/UW entry on Dystrophic Epidermolysis Bullosa
- MedWorm: Epidermolysis Bullosa - the latest news and medical research on this condition.
- Stanford EB Research Update posted via the EB Medical Research Foundation
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