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Epidermolysis bullosa

 
Medical Encyclopedia: Epidermolysis Bullosa
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Definition

Epidermolysis bullosa (EB) is a group of rare inherited skin diseases that are characterized by the development of blisters following minimal pressure to the skin. Blistering often appears in infancy in response to simply being held or handled. In rarer forms of the disorder, EB can be life-threatening. There is no cure for the disorder. Treatment focuses on preventing and treating wounds and infection.

Description

Epidermolysis bullosa has three major forms and at least 16 subtypes. The three major forms are EB simplex, junctional EB, and dystrophic EB. These can range in severity from mild blistering to more disfiguring and life-threatening disease. Physicians diagnose the form of the disease based on where the blister forms in relation to the epidermis (the skin's outermost layer) and the deeper dermis layer.

The prevalence of epidermolysis varies among different populations. A study in Scotland estimated the prevalence to be one in 20, 400. Researchers in other parts of the world estimate the prevalence to be one in 100, 000. This variance is due to the variability of expression. Many cases of epidermolysis bullosa are often not accurately diagnosed and thus, are not reported.

— L. Fleming Fallon, Jr., MD, PhD, DrPH


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Sci-Tech Dictionary: epidermolysis bullosa
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(′ep·ə·dər′mäl·ə·səs bu̇′lō·sə)

(medicine) A congenital skin disease characterized by the development of vesicles and bullae upon slight, or even without, trauma.

Dental Dictionary: epidermolysis bullosa
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(ep′i-dur-mol′i-sis)
n

A disease of the skin characterized by bullae, vesicles, cysts, and, often, associated mandibular enlargement. See also syndrome, Goldscheider’s and syndrome, Weber-Cockayne.

Epidermolysis bullosa. (Regezi/Sciubba/Jordan, 2003)

Epidermolysis bullosa. (Regezi/Sciubba/Jordan, 2003)

Medical Dictionary: epidermolysis bul·lo·sa
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(bə-lō'sə)
n.

Any of a group of inherited chronic noninflammatory skin diseases in which large blisters and erosions develop after slight trauma.

Wikipedia: Epidermolysis bullosa
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Epidermolysis bullosa
Classification and external resources
ICD-10 Q81.
ICD-9 757.39
DiseasesDB 31928 33248 29580 4338 32146 31929 29579 4334 33249 33564
eMedicine derm/124
MeSH D004820

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]

Contents

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.[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]

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:

Epidermolysis bullosa simplex

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

Junctional epidermolysis bullosa

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

Dystrophic epidermolysis bullosa

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

Other genetic

OMIM Name Locus Gene
609638 epidermolysis bullosa, lethal acantholytic 6p24 DSP

Other

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]

References

  1. ^ "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. 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ Gena Brumitt Gruschovnik, DEBRA International Executive Committee. "DEBRA Chile website". http://www.debrachile.cl/. 
  7. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
  8. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
  9. ^ 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. 
  10. ^ 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. 
  11. ^ 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. 

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
v • d • e
Congenital malformations and deformations of integument (Q80-Q82, 757.0-757.3)
Skin disease/
genodermatosis
Epidermolysis bullosa
Other
Elastic fiber/Connective tissue
integument, SF, LCT navs: anat/physio, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

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