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]
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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]
The size or validity of the differential diagnosis presented with a child or adult with blistering of the skin is most certainly a reflection of the level of training and expertise of the physician. In almost all situations the diagnosis of EB should be apparent to a dermatologist, with only a marginal number of cases needing more of wide-ranging differential diagnoses before tissue confirmationCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Pemphigus vulgaris
Pemphigus vulgaris (PV) is a rare autoimmune, intraepithelial, blistering disease that is associated with a very encumbering quality of life. PV is characterized by autoantibodies against desmoglein 3 and desmoglein 1 of keratinocytes. It clinically, however, is characterized by extensive blisters that affect the skin and mucous membranesCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. This is found in the mucous membrane in 95% of cases (oral, pharyngeal, esophageal, nasal, and genital), followed by skin lesions, crusting, and purple stains on the anterior chest, back, and abdomen, with oral lesions being common as well. Characteristics of these blisters include a diameter consisting of millimeters to centimeters that is isolated or in groups that appear to be fragile and flaccid, breaking in eroded areas, becoming bloody and wet, and covered with bloody crusting. Areas such as the face, scalp, neck, sternum, armpit, groin and periumbicals may experience a burning sensationCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
The treatment goal of PV is to prevent new blister formation, heal old wounds, and eventually complete the tapering of treatment. As of now, there has been been no treatment strategy for PV according to the international consensus. The best treatment strategy for PV remains unclear as higher quality RCTs are needed in the future to explore other unstudied interventionsCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Bullous systemic lupus erythematosus
Bullous systemic lupus erythematosus (BSLE) is a rare and distinct subtype of SLE, occurring mostly in the third decade. This subepidermal blistering disease occurs in patients that have been diagnosed with systemic lupus erythematosus (SLE), with a low occurrence of only 1%. Clinically, patients diagnosed with BSLE present with a rapid, widespread small vesicles or large tense blisters that are filled with fluidCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. These lesions may affect the trunk and limbs, or even face and mucous membranes, involving any area of the body. Diagnosis of BSLE includes the following: a past diagnosis of SLE based on American College Criteria (ACR), presence of vesicles and bullae most commonly located in sun-exposed sites, histopathology findings, and deposition of immunoglobulins at the basement membrane zone. Patient evaluation is critical, as a prompt diagnosis may prevent further SLE complications and change the prognosis and method to treatmentCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
In regards to treatment for BSLE, dapsone, corticosteroids, and/or immunosuppressant’s are the first treatment options to consider. If symptoms do not go away rituximab might be appropriate to considerCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Bullous Pemphigoid
Bullous pemphigoid (BP), idiopathic in origin, is the most common autoimmune subdermal blistering disease of the skin and mucous membranes, occurring from antibodies directed against the proteins BPAG1 and BPAG2Cite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. This disease is most commonly seen in elderly individuals and is characterized with blistering of the skin as well as intense pruritusCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Systemic corticosteroids, prednisone, in doses of 1 mg/kg/day, with dose tapering according to the therapeutic control of disease was shown to be the treatment of choice with the highest level of evidence for BPCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Dyshidrotic eczema
Dyshidrotic eczema is a chronic, recurrent skin disease that effects the palms and soles symmetrically. It often is a very intense and painful condition that can have a very devastating impact on quality of life. Although the etiology is unclear, dyshidrotic eczema is often triggered by emotional stress, smoking, seasonal changes, fungal infections, atopy, nickel allergy, hyperhidrosis, and intravenous immunoglobulin therapyCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Much like many other types of eczema, this is a benign chronic inflammatory disease that may occur at intervals of 3 to 4 weeks for months or years, or even progress to longer irregular intervals. Dyshidrotic eczema has no impact on survival as well as very few effective treatment optionsCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Linear IgA Bullous Dermatosis
Linear IgA Bullous Dermatosis (LAD) is an autoimmune, chronic bullous disease affecting mainly young children and adults. Sub-epithelial blister formation with neutrophils along the basement membrane zone are typically histological characteristic features in LAD.
Childhood onset LAD is characterized by vesicles and bulla mainly around the mouth, eyes, lower abdomen, thighs, buttocks, genitals, wrists, and ankles. Subjective symptoms range mild pruritus to severe burning. The adult onset form presents with lesions on the trunk and occasionally head and limbs. The most often used treatment modalities in both children and adults are corticosteroids, dapsone, and sulpapyridineCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Case Reports/ Case Studies[edit | edit source]
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Resources
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Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
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