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Epidermolysis bullosa

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Epidermolysis bullosa
SpecialtyMedical genetics Edit this on Wikidata

Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes, with an incidence of 1/50,000. Its severity ranges from mild to lethal. It is caused by a mutation in the keratin or collagen gene.[1]

As a result, the skin is extremely fragile. Minor mechanical friction or trauma will separate the layers of the skin and form blisters.

The skin has two layers; the outer layer is called the epidermis and the inner layer the dermis. In normal individuals, there are protein anchors, made of collagen, between the two layers that prevent them from moving independently from one another (shearing). In people born with EB, the two skin layers lack the protein 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 with third-degree burns.[2]

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.[3]

"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.[4]

Children with the condition have also been described as "Cotton Wool Babies," [5][6] and in South America, "Crystal Skin Children" is the term used. [7]

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. [8][9]

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.[10]

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[11][12]: 596 :

Epidermolysis bullosa simplex

OMIM Name Locus Gene
Template:OMIM2 epidermolysis bullosa simplex with migratory circinate erythema 12q13 KRT5
Template:OMIM2 epidermolysis bullosa simplex with mottled pigmentation; EBS-MP 12q13 KRT5
Template:OMIM2 epidermolysis bullosa simplex, autosomal recessive 17q12-q21 KRT14
Template:OMIM2 epidermolysis bullosa simplex, Koebner type; EBS2 17q12-q21, 12q13 KRT5, KRT14
Template:OMIM2 epidermolysis bullosa simplex, Weber-Cockayne type 17q12-q21, 17q11-qter, 12q13 KRT5, KRT14
Template:OMIM2 epidermolysis bullosa herpetiformis, Dowling-Meara type 17q12-q21, 12q13 KRT5, KRT14
Template:OMIM2 epidermolysis bullosa simplex with muscular dystrophy 8q24 PLEC1
Template:OMIM2 epidermolysis bullosa simplex with pyloric atresia 8q24 PLEC1
Template:OMIM2 epidermolysis bullosa simplex, Ogna type 8q24 PLEC1

Junctional epidermolysis bullosa

OMIM Name Locus Gene
Template:OMIM2 epidermolysis bullosa junctionalis with pyloric atresia 17q11-qter, 2q31.1 ITGB4, ITGA6
Template:OMIM2 epidermolysis bullosa, junctional, Herlitz type 18q11.2, 1q32, 1q25-q31 LAMA3, LAMB3, LAMC2
Template:OMIM2 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
Template:OMIM2 epidermolysis bullosa dystrophica, autosomal dominant; DDEB 3p21.3 COL7A1
Template:OMIM2 epidermolysis bullosa dystrophica, autosomal recessive; RDEB 11q22-q23, 3p21.3 COL7A1, MMP1
Template:OMIM2 epidermolysis bullosa dystrophica, pretibial 3p21.3 COL7A1
Template:OMIM2 epidermolysis bullosa pruriginosa 3p21.3 COL7A1
Template:OMIM2 epidermolysis bullosa with congenital localized absence of skin and deformity of nails 3p21.3 COL7A1
Template:OMIM2 transient bullous dermolysis of the newborn; TBDN 3p21.3 COL7A1

Other genetic

OMIM Name Locus Gene
Template:OMIM2 epidermolysis bullosa, lethal acantholytic 6p24 DSP

Other

Treatment

Recent research has focused on changing the mixture of keratins produced in the skin. There are 54 known keratin genes, 28 type I intermediate filament genes and 26 type II, which work as heterodimers. Many share substantial structural and functional similarity, but are specialized for different cell types or conditions under which they are normally produced. If a drug can shift the balance of production toward an intact keratin gene, symptoms can be reduced. For example, sulforaphane, a compound found in broccoli, was found to reduce blistering in a mouse model to the point where affected pups could not be identified visually, when injected into pregnant mice (5 µmol/day = 0.9 mg) and applied topically to newborns (1 µmol/day = 0.2 mg in jojoba oil).[13]

References

  1. ^ "342". Harrison's Principles of Internal Medicine (16th ed.). {{cite book}}: Cite uses deprecated parameter |authors= (help)
  2. ^ Mary E. O'Brien, M.D. "Caroline". The Columbia Observer. Retrieved 2008-07-22.
  3. ^ "Series 1 - The Boy Whose Skin Fell Off". Channel 4. 2004. Retrieved 2009-02-28.
  4. ^ 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.
  5. ^ Suellen Hinde, Health reporter (2006-11-26). "Little girl's life of pain". HeraldSun.com.au. Retrieved 2008-07-22.
  6. ^ 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)
  7. ^ Gena Brumitt Gruschovnik, DEBRA International Executive Committee. "DEBRA Chile website".
  8. ^ 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)
  9. ^ 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.
  10. ^ Josephine Marcotty (2008-07-03). "Long-shot stem-cell treatment gives two brothers a future". Star Tribune. Retrieved 2008-07-22.
  11. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
  12. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
  13. ^ Michael Kerns; et al. (2007-09-04). "Reprogramming of keratin biosynthesis by sulforaphane restores skin integrity in epidermolysis bullosa simplex". Proc Natl Acad Sci U S A. 104 (36): 14460–14465. {{cite journal}}: Explicit use of et al. in: |author= (help)
  • 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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