Epidermolysis bullosa

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Epidermolysis bullosa
ICD-10 Q81.
ICD-9 757.39
eMedicine derm/124 
MeSH D004820

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Epidermolysis bullosa

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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:

  1. EBS - Weber-Cockayne (EBS-WC)
  2. EBS - Koebner (EBS-K)
  3. EBS - Dowling-Meara (EBS-DM) -- caused by missense mutation in KRT5 (E477K) or one of two missense mutations in KRT14 (R125C and R125H)
  4. 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

  1. Mary E. O'Brien, M.D. of Colombia University [1]
  2. M Peter Marinkovich, M.D. at eMedicine.com [2]
  3. 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
Cost Effectiveness of Epidermolysis bullosa

| group5 = Clinical Trials Involving Epidermolysis bullosa | list5 = Ongoing Trials on Epidermolysis bullosa at Clinical Trials.govTrial results on Epidermolysis bullosaClinical Trials on Epidermolysis bullosa at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Epidermolysis bullosa | list6 = US National Guidelines Clearinghouse on Epidermolysis bullosaNICE Guidance on Epidermolysis bullosaNHS PRODIGY GuidanceFDA on Epidermolysis bullosaCDC 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 bullosaAND (drug interactions)}} Drug interactions with Epidermolysis bullosaAND (side effects)}} Side effects of Epidermolysis bullosaAND (Allergy)}} Allergic reactions to Epidermolysis bullosaAND (overdose)}} Overdose information on Epidermolysis bullosaAND (carcinogenicity)}} Carcinogenicity information on Epidermolysis bullosaAND (pregnancy)}} Epidermolysis bullosa in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Epidermolysis bullosa


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Epidermolysis bullosa | list9 = AND (pharmacogenomics)}} Genetics of Epidermolysis bullosaAND (pharmacogenomics)}} Pharmacogenomics of Epidermolysis bullosaAND (proteomics)}} Proteomics of Epidermolysis bullosa


| group10 = Newstories on Epidermolysis bullosa | list10 = Epidermolysis bullosa in the newsBe alerted to news on Epidermolysis bullosaNews 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 bullosaDiscussion groups on Epidermolysis bullosaPatient Handouts on Epidermolysis bullosaDirections to Hospitals Treating Epidermolysis bullosaRisk calculators and risk factors for Epidermolysis bullosa


| group13 = Healthcare Provider Resources on Epidermolysis bullosa | list13 = Symptoms of Epidermolysis bullosaCauses & Risk Factors for Epidermolysis bullosaDiagnostic studies for Epidermolysis bullosaTreatment 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 EspanolEpidermolysis bullosa en Francais

| group16 = Business Resources on Epidermolysis bullosa | list16 = Epidermolysis bullosa in the MarketplacePatents on Epidermolysis bullosa

| group17 = Informatics Resources on Epidermolysis bullosa | list17 = List of terms related to Epidermolysis bullosa


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