Epidermolysis bullosa 663200 224363599 2008-07-08T15:00:53Z AnjaManix 5964318 {{Infobox_Disease | Name = {{PAGENAME}} | Image = | Caption = | DiseasesDB = | ICD10 = {{ICD10|Q|81||q|80}} | ICD9 = {{ICD9|757.39}} | ICDO = | OMIM = | MedlinePlus = | eMedicineSubj = derm | eMedicineTopic = 124 | MeshID = D004820 | }} '''Epidermolysis Bullosa''' ('''EB''') is a [[rare disease|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 [[United Kingdom|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|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 6, [[collagen XVII|collagen XVII]], proteins that contribute to the cohesion of the dermis and epidermis. A severe form of the disease, JEB gravis is often fatal early in life. Death occurs as a result of epithelial blistering of the respiratory, digestive and genitourinary systems. === Dystrophic EB (DEB) -- under the basement membrane === :''See main article at [[Epidermolysis bullosa dystrophica|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 (skin)|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.<ref>Mary E. O'Brien, M.D. of Colombia University [http://www.columbia.edu/cu/observer/issues/2004Fall/nonfic/Caroline.html]</ref> "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.<ref>[http://www.dundee.ac.uk/pressreleases/prmay05/butterfly.html Dundee Scientists on road to cure for "Butterfly Children" condition ] dundee.ac.uk. [[2005-05-12]] Retrieved [[2008-04-01]]</ref> Children with the condition have also been described as "Cotton Wool Babies". <ref>[http://www.news.com.au/heraldsun/story/0,21985,20819799-2862,00.html Little Girl's Life of Pain [[news.com.au]] November 26, 2006 Retrieved 20 April 2008] </ref> <ref> [http://www.e-bility.com/articles/eb_intro.php] </ref> == 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. <ref>M Peter Marinkovich, M.D. at eMedicine.com [http://www.emedicine.com/DERM/topic124.htm]</ref> <ref>Ellen Pfendner, Jouni Uitto and Jo-David Fine, Journal of Investigative Dermatology [http://www.nature.com/jid/journal/v116/n3/full/5601019a.html]</ref> 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 EP. The surgery 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. ==References== <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. * {{GeneTests|ebs}} * [http://www.ebkids.org/researchupdate.html Stanford EB Research Update] posted via the EB Medical Research Foundation * [http://www.startribune.com/lifestyle/health/19471139.html?location_refer=Error] [[Category:Genetic disorders]] [[Category:Rare diseases]] {{Congenital malformations and deformations of integument}} [[de:Epidermolysis bullosa]] [[it:Epidermolisi bollosa]] [[nl:Epidermolysis bullosa]] [[pl:Pęcherzowe oddzielanie się naskórka]] [[sl:Bulozna epidermoliza]] [[sv:Epidermolysis bullosa]] [[zh:表皮溶解水皰症]]