Epidermolysis Bullosa: Difference between revisions
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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 outcomes<ref name="5">Fine J. Inherited epidermolysis bullosa. Orphanet Journal of Rare Diseases 2010;5:12.</ref>. 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 0.99<ref name="1" />. <br><br> | 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 outcomes<ref name="5">Fine J. Inherited epidermolysis bullosa. Orphanet Journal of Rare Diseases 2010;5:12.</ref>. 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 0.99<ref name="1" />. <br><br> | ||
== Characteristics/Clinical Presentation<br> == | == Characteristics/Clinical Presentation == | ||
The primary symptom of EB is lesions to the skin. These lesions appear in multiple forms, most commonly in the form of blisters or open wounds<ref name="4">Pillay E. Epidermolysis bullosa. Part 1: causes, presentation and complications [corrected] [published erratum appears in BR J NURS;2008 Apr 10-23;17(7):413]. British Journal Of Nursing [serial on the Internet]. (2008, Mar 13), [cited April 5, 2016]; 17(5): 292-296 5p. Available from: CINAHL with Full Text.</ref>. Areas of appearance of skin lesions can be anywhere on the body but tend to arise on parts of the body that are subject to repeated friction or minor trauma, however the amplitude of this stress is not proportionate to the amount of skin deformation or blister/wound size. EB is classified into three primary groups, determined by the depth at which the skin is impacted. These groups are EB simplex, junctional EB, and Dystrophic EB<ref name="4" />. | |||
<u>EB simplex</u><br> Caused by a mutation in the Keratin 5 or 14 genes, the simplex form is the most common type of EB<ref name="5">Kiritsi D, Pigors M, Tantcheva-Poor I, Wessel C, Arin M, Has C, et al. Epidermolysis Bullosa Simplex Ogna Revisited. Journal Of Investigative</ref>. This type of EB affects the epidermis and generally the blistering of the skin is most severe on the feet and hands. Other characteristics of EB simplex are a strong association with the dominant gene and, in most cases, is not life threatening, however the Dowling Meara variety could be fatal<ref name="5">Kiritsi D, Pigors M, Tantcheva-Poor I, Wessel C, Arin M, Has C, et al. Epidermolysis Bullosa Simplex Ogna Revisited. Journal Of Investigative</ref>. | |||
<u>Junctional EB</u><br> Junctional EB (JEB) occurs in the lamina lucida of the dermal-epidermal junction<ref name="6">Yan E, Paris J, Ahluwalia J, Lane A, Bruckner A. Treatment decision-making for patients with the Herlitz subtype of junctional epidermolysis bullosa. Journal Of Perinatology [serial on the Internet]. (2007, May), [cited April 5, 2016]; 27(5): 307-311 5p. Available from: CINAHL.</ref>. There are two forms of JEB, Herlitz and non-Herlitz. The Herlitz subtype occurs in infants and currently has no cure with fatality rate around 90%, while the non-Herlitz form is compatible with a normal life-span. Characteristics of JEB include fragile skin and mucous membrane resulting in blistering of the skin<ref name="6" />. In non-Herlitz JEB the most common problems include nail dystrophy and loss, corneal erosion and scarring, dental problems, and fragility of the genitourinary tract leading to urethral stenosis<ref name="4" />. | |||
<u>Dystrophic EB</u><br> Caused by a mutation in the COL7A1 gene, dystrophic epidermolysis bullosa (DEB) occurs at the dermal-epidermal junction below the basal lamina<ref name="7">Yang C, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Choate K, et al. An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred. Pediatric Dermatology [serial on the Internet]. (2012, Nov), [cited April 5, 2016]; 29(6): 725-731. Available from: Academic Search Complete.</ref>. DEB can be broken down further into two categories by the way it is inherited, either by the dominant or recessive gene. A defect in the dominant gene resulting in DEB usually presents with more mild symptoms, while inheritance by a mutation in the recessive gene has more severe symptoms<ref name="7" />. Patient’s with DEB typically present with blistering of skin over a large portion of their body, particularly on the extensor surfaces of the extremities and the torso<ref name="4" />.<br> | |||
== Associated Co-morbidities == | == Associated Co-morbidities == | ||
Revision as of 18:39, 8 April 2016
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]
The primary symptom of EB is lesions to the skin. These lesions appear in multiple forms, most commonly in the form of blisters or open woundsCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Areas of appearance of skin lesions can be anywhere on the body but tend to arise on parts of the body that are subject to repeated friction or minor trauma, however the amplitude of this stress is not proportionate to the amount of skin deformation or blister/wound size. EB is classified into three primary groups, determined by the depth at which the skin is impacted. These groups are EB simplex, junctional EB, and Dystrophic EBCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
EB simplex
Caused by a mutation in the Keratin 5 or 14 genes, the simplex form is the most common type of EBCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. This type of EB affects the epidermis and generally the blistering of the skin is most severe on the feet and hands. Other characteristics of EB simplex are a strong association with the dominant gene and, in most cases, is not life threatening, however the Dowling Meara variety could be fatalCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Junctional EB
Junctional EB (JEB) occurs in the lamina lucida of the dermal-epidermal junctionCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. There are two forms of JEB, Herlitz and non-Herlitz. The Herlitz subtype occurs in infants and currently has no cure with fatality rate around 90%, while the non-Herlitz form is compatible with a normal life-span. Characteristics of JEB include fragile skin and mucous membrane resulting in blistering of the skinCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. In non-Herlitz JEB the most common problems include nail dystrophy and loss, corneal erosion and scarring, dental problems, and fragility of the genitourinary tract leading to urethral stenosisCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Dystrophic EB
Caused by a mutation in the COL7A1 gene, dystrophic epidermolysis bullosa (DEB) occurs at the dermal-epidermal junction below the basal laminaCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. DEB can be broken down further into two categories by the way it is inherited, either by the dominant or recessive gene. A defect in the dominant gene resulting in DEB usually presents with more mild symptoms, while inheritance by a mutation in the recessive gene has more severe symptomsCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Patient’s with DEB typically present with blistering of skin over a large portion of their body, particularly on the extensor surfaces of the extremities and the torsoCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Associated Co-morbidities[edit | edit source]
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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]
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Etiology/Causes[edit | edit source]
Systemic Involvement[edit | edit source]
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Medical Management (current best evidence)[edit | edit source]
Physical Therapy Management (current best evidence)[edit | edit source]
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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]
Debra of America – Dystrophic Epidermolysis Bullosa Research Association - http://www.debra.org
Recent Related Research (from Pubmed)[edit | edit source]
see tutorial on Adding PubMed Feed
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References[edit | edit source]
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