Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis.

This article is protected by copyright. All rights reserved. PMID: 31090061 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research

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WARNING, GRAPHIC CONTENT: Phoebe Crowson, of Peterborough, has had her childhood 'robbed' by the condition epidermolysis bullosa, diagnosed at birth.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Authors: Reimer A, Has C Abstract Syndromic disorders with skin fragility belong to different groups of genodermatoses: epidermolysis bullosa (EB), Ehlers-Danlos syndrome and porphyria. The genetic defects mainly concern structural proteins which assure the mechanical stability of the skin and other tissues. Depending on the expression pattern of the affected protein in the skin, cutaneous fragility may manifest as superficial erosions, blisters, wounds, wound healing defects or scars. Extracutaneous manifestations are manifold and involve the heart, skeletal muscles, intestine, kidneys, blood vessels or the skelet...
Source: Der Hautarzt: Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - Category: Dermatology Tags: Hautarzt Source Type: research
Epidermolysis Bullosa (EB) is a group of rare genetic disorders resulting in skin fragility and other symptoms. Commissioned by DEBRA International and funded by DEBRA Norway, this evidence-bases guideline pro...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
Epidermolysis bullosa (EB) is a group of rare, genetic diseases that affect the integrity of epithelial tissues, most notably the skin. Patients experience recurrent skin wounding, with severity depending on t...
Source: Trials - Category: General Medicine Authors: Tags: Study protocol Source Type: research
The immunomodulatory potential and low incidence of severe side effects of high-dose intravenous immunoglobulin (IVIg) treatment led to its successful application in a variety of dermatological autoimmune diseases over the last two decades. IVIg are usually administered at a dose of 2g per kg body weight distributed over two to five days every 4 weeks. They are most commonly used as a second or third line treatment in dermatological autoimmune disease (pemphigus vulgaris, pemphigus foliaceus, bullous pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, dermatomyositis, systemic vasculitis, and systemic ...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
ConclusionFunctional lumen imaging probe (FLIP) can safely provide important luminal measurements in pediatric patients with esophageal stenosis, and may guide therapy. Esophageal dilation using EsoFLIP may yield a larger diameter change and may potentially reduce procedure time when compared to traditional balloon dilation. Pediatric patients with epidermolysis bullosa and esophageal stenosis responded well to EsoFLIP dilation.
Source: Surgical Endoscopy - Category: Surgery Source Type: research
AbstractBackgroundEpidermolysis bullosa (EB) is a group of rare, genetic diseases that affect the integrity of epithelial tissues, most notably the skin. Patients experience recurrent skin wounding, with severity depending on type, sub-type, and mutation. Oleogel-S10, a formulation of birch bark extract, has demonstrated efficacy in a Phase 2 trial assessing re-epithelialization of wounds in EB. EASE (NCT03068780, EudraCT 2016 –002066-32) is a randomized, Phase 3, placebo-controlled study designed to determine the efficacy of Oleogel-S10 versus placebo in patients with EB.MethodsEASE is a Phase 3, two-phase study com...
Source: Trials - Category: Research Source Type: clinical trials
Melissa Jaquez, 38, of Wichita, Kansas, is mother to three sons, two of which suffer from the genetic condition severe recessive dystrophic epidermolysis bullosa.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Publication date: Available online 7 June 2019Source: Autoimmunity ReviewsAuthor(s): Khalaf Kridin, Diana Kneiber, Eric H. Kowalski, Manuel Valdebran, Kyle T. AmberAbstractEpidermolysis bullosa acquisita is a rare autoimmune blistering disease which results in vesicle and bullae formation on the skin and erosions on the mucous membranes. EBA is mediated by autoantibodies to collagen VII. Clinically, it can present with numerous phenotypes, though the most common are the mechanobullous and inflammatory variants. Patients with mechanobullous EBA develop non-inflammatory bullae and erosions at sites of trauma while patients w...
Source: Autoimmunity Reviews - Category: Allergy & Immunology Source Type: research
AbstractTo describe the utilization of Next Generation Sequencing technologies for genetic counseling and prenatal diagnosis. Ten families requested prenatal testing in view of previously affected offspring with genetically heterogeneous/hitherto undiagnosed disorders. Next generation sequencing was offered as a first tier investigation (1) in the probands who had not been diagnosed by baseline investigations, and (2) in cases where preliminary examination/testing suggested a genetically heterogeneous disorder, while the precise diagnosis was not available. The subsequently identified molecular basis enabled prenatal testi...
Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research
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