Epidermolysis Bullosa
Original Editors - Cody Mumaw and Rachel Kirchgessner from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Top Contributors - Rachel Kirchgessner, Cody Mumaw, Elaine Lonnemann, 127.0.0.1, WikiSysop, Lucinda hampton, Evan Thomas and Kim Jackson
Definition/Description[edit | edit source]
Epidermolysis bullosa (EB) consists of a rare group of genetically determined skin fragility disorders, categorized by blistering skin and mucosa in response to little or no apparent trauma, with some forms leading to substantial morbidity and increased mortalityCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. The fragility of skin and mucosa within this disease is due to defects in structural proteins within the epidermis, specifically at the epidermal-dermal junction, that cause a deficiency of cellular structures that normally stabilize the adhesion of the epidermis. These, in turn, result from abnormalities in the genes encoding various proteins that define EB into specific categoriesCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Accordingly, EB has been classified into three major different subtypes based on mode of inheritance, location of lesions, and clinical features which include the following three major forms: EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB)Cite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. These three different subtypes are based on the level of blistering of the skin, although the classification of EB continues to evolve with recognition of up to 30 clinical subtypesCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Prevalence[edit | edit source]
All types and subtypes of EB are rare. Estimates of prevalence and incidence of EB have been endeavored by many different sampling techniques in numerous populations worldwide, but the most accurate and up to date epidemiological data is derived from the National EB registry (NEBR) from the USA. This registry is a cross-sectional and longitudinal epidemiological study of patients diagnosed with EB across the entire U.S. Over 16 years (1986-2002), 3,300 patients were identified, enrolled, classified, characterized, and followed for outcomesCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Among this study, the overall incidence and prevalence of inherited EB, within the United States, is approximately 19.60 per one million live births and 8.22 per one million population, respectively. When analyzing the different classifcations of EB, the incidence and prevalence rates for EB simplex are 10.75 and 4.65, for junctional EB are 2.04 and 0.44, for dystrophic EB recessive type are 2.04 and 0.92, and dystrophic EB dominant type are 2.86 and 0.99Cite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Characteristics/Clinical Presentation
[edit | edit source]
Associated Co-morbidities[edit | edit source]
add text here
Medications[edit | edit source]
Currently no drugs are known to correct the primary molecular effects in EB. Recently, the use of topical opiates for pain management has been proven to reduce the need for powerful systemic analgesia. Amitriptyline, as well, has also been found to be useful in both children and adults in reducing pain. As far as systemic treatment, no agents thus so far have proven to be effective in controlling blisters in patients diagnosed with EB. Along with this, prolonged use of corticosteroids is contraindicated because of the high risk of complications associated with this drug. No other medication, including phenytoin and tetracycline, have improved the blistering or epithelial disadhesion in EB. Thus, there is no current reliable clinical trial evidence for any type of treatment with medicationCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
add text here
Etiology/Causes[edit | edit source]
Systemic Involvement[edit | edit source]
add text here
Medical Management (current best evidence)[edit | edit source]
Physical Therapy Management (current best evidence)[edit | edit source]
add text here
Differential Diagnosis[edit | edit source]
Case Reports/ Case Studies[edit | edit source]
Schmidt E, Benoit S, Bröcker EB, Zillikens D, Goebeler M. Successful adjuvant treatment of recalcitrant epidermolysis bullosa acquisita with anti-CD20 antibody rituximab. Archives of dermatology. 2006 Feb 1;142(2):147-50.
http://archderm.jamanetwork.com/article.aspx?articleid=402587&resultclick=1
Daka A. K, Hasbahta T. S, Gärqari A, Krasniqi M. V, Daka Q. Neonate with Severe Complications of Epidermolysis Bullosa and Bilateral Clubfoot: An Unusual Case Presentation and Treatment. Journal Of Nepal Paediatric Society [serial on the Internet]. (2015, May), [cited April 8, 2016]; 35(2): 180-183. Available from: Academic Search Complete.
Maitra S, Das N, Lal N. Peeling skin in newborn with abdominal distension. Indian Journal Of Paediatric Dermatology [serial on the Internet]. (2016, Jan), [cited April 8, 2016]; 17(1): 29-31. Available from: Academic Search Complete.
Resources
[edit | edit source]
add appropriate resources here
Recent Related Research (from Pubmed)[edit | edit source]
see tutorial on Adding PubMed Feed
Failed to load RSS feed from http://www.ncbi.nlm.nih.gov/entrez/eutils/erss.cgi?rss_guid=1pCNTBTnGJ4jzm0d8phDADSS7z81c1j17dgkMiIdY8r0zORM1q|charset=UTF-8|short|max=10: Error parsing XML for RSS
References[edit | edit source]
see adding references tutorial.
