Epidermolysis bullosa
| Epidermolysis bullosa | |
| ICD-10 | Q81. |
|---|---|
| ICD-9 | 757.39 |
| eMedicine | derm/124 |
| MeSH | D004820 |
Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [4] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.
Overview
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 6, 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.
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.[1]
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 genders. [2] [3]
References
- ↑ Mary E. O'Brien, M.D. of Colombia University [1]
- ↑ M Peter Marinkovich, M.D. at eMedicine.com [2]
- ↑ Ellen Pfendner, Jouni Uitto and Jo-David Fine, Journal of Investigative Dermatology [3]
External links
- 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.
- ebs at NIH/UW GeneTests
- Stanford EB Research Update posted via the EB Medical Research Foundation
WikiDoc Research Resources for Epidermolysis bullosa | |
|---|---|
| Articles on Epidermolysis bullosa | Most recent articles on Epidermolysis bullosa • Most cited articles on Epidermolysis bullosa • Review articles on Epidermolysis bullosa • Articles on Epidermolysis bullosa in N Eng J Med, Lancet, BMJ |
| Media (Slides, Video, Images, MP3) on Epidermolysis bullosa | Powerpoint slides on Epidermolysis bullosa • Images of Epidermolysis bullosa • Photos of Epidermolysis bullosa • Podcasts & MP3s on Epidermolysis bullosa • Videos on Epidermolysis bullosa |
| Evidence Based Medicine Regarding Epidermolysis bullosa | AND (Cochrane Database Syst Rev[http://worldselectshop.com/?id=9361 Cochrane Collaboration on Epidermolysis bullosa • Bandolier on Epidermolysis bullosa • TRIP on Epidermolysis bullosa |
| Cost Effectiveness of Epidermolysis bullosa | AND (Cost effectiveness) |
| group5 = Clinical Trials Involving Epidermolysis bullosa | list5 = Ongoing Trials on Epidermolysis bullosa at Clinical Trials.gov • Trial results on Epidermolysis bullosa • Clinical Trials on Epidermolysis bullosa at Google
| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Epidermolysis bullosa
| list6 = US National Guidelines Clearinghouse on Epidermolysis bullosa • NICE Guidance on Epidermolysis bullosa • NHS PRODIGY Guidance • FDA on Epidermolysis bullosa • CDC on Epidermolysis bullosa
| group7 = Textbook Information on Epidermolysis bullosa
| list7 = Books and Textbook Information on Epidermolysis bullosa
| group8 = Pharmacology Resources on Epidermolysis bullosa
| list8 =
AND (Dose)}} Dosing of Epidermolysis bullosa • AND (drug interactions)}} Drug interactions with Epidermolysis bullosa • AND (side effects)}} Side effects of Epidermolysis bullosa • AND (Allergy)}} Allergic reactions to Epidermolysis bullosa • AND (overdose)}} Overdose information on Epidermolysis bullosa • AND (carcinogenicity)}} Carcinogenicity information on Epidermolysis bullosa • AND (pregnancy)}} Epidermolysis bullosa in pregnancy • AND (pharmacokinetics)}} Pharmacokinetics of Epidermolysis bullosa •
| group9 = Genetics, Pharmacogenomics, and Proteinomics of Epidermolysis bullosa
| list9 =
AND (pharmacogenomics)}} Genetics of Epidermolysis bullosa • AND (pharmacogenomics)}} Pharmacogenomics of Epidermolysis bullosa • AND (proteomics)}} Proteomics of Epidermolysis bullosa
| group10 = Newstories on Epidermolysis bullosa
| list10 = Epidermolysis bullosa in the news • Be alerted to news on Epidermolysis bullosa • News trends on Epidermolysis bullosa</small>
| group11 = Commentary on Epidermolysis bullosa
| list11 =
Blogs on Epidermolysis bullosa
| group12 = Patient Resources on Epidermolysis bullosa | list12 = Patient resources on Epidermolysis bullosa • Discussion groups on Epidermolysis bullosa • Patient Handouts on Epidermolysis bullosa • Directions to Hospitals Treating Epidermolysis bullosa • Risk calculators and risk factors for Epidermolysis bullosa
| group13 = Healthcare Provider Resources on Epidermolysis bullosa
| list13 =
Symptoms of Epidermolysis bullosa • Causes & Risk Factors for Epidermolysis bullosa • Diagnostic studies for Epidermolysis bullosa • Treatment of Epidermolysis bullosa
| group14 = Continuing Medical Education (CME) Programs on Epidermolysis bullosa | list14 = CME Programs on Epidermolysis bullosa
| group15 = International Resources on Epidermolysis bullosa | list15 = Epidermolysis bullosa en Espanol • Epidermolysis bullosa en Francais
| group16 = Business Resources on Epidermolysis bullosa | list16 = Epidermolysis bullosa in the Marketplace • Patents on Epidermolysis bullosa
| group17 = Informatics Resources on Epidermolysis bullosa | list17 = List of terms related to Epidermolysis bullosa
}}
de:Epidermolysis bullosa nl:Epidermolysis bullosasv:Epidermolysis bullosa
Table of Contents In Alphabetical Order | By Individual Diseases | Signs and Symptoms | Physical Examination | Lab Tests | Drugs
Editor Tools Become an Editor | Editors Help Menu | Create a Page | Edit a Page | Upload a Picture or File | Printable version | Permanent link | Maintain Pages | What Pages Link HereThere is no pharmaceutical or device industry support for this site and we need your viewer supported Donations | Editorial Board | Governance | Licensing | Disclaimers | Avoid Plagiarism | Policies
