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https://www.readbyqxmd.com/read/29159879/new-insights-into-pemphigoid-diseases
#1
Frank Antonicelli, Ralf J Ludwig
Pemphigus and pemphigoid diseases are organ-specific autoimmune blistering diseases (AIBD), characterized and caused by autoantibodies to structural components of the skin (1). The autoantigens targeted in pemphigus are desmoglein 1 and 3, two proteins of the desmosomal structure, while the autoantigens in pemphigoid diseases (PD) are components of the basal membrane. For example, bullous pemphigoid (BP), the most frequent PD is characterized by autoantibodies against type XVII collagen (COL17, BP180) and BP230, and epidermolysis bullosa acquisita (EBA) is caused by autoantibodies against type VII collagen (COL7)...
November 21, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/29159697/subepidermal-autoimmune-bullous-diseases-overview-epidemiology-and-associations
#2
REVIEW
Khalaf Kridin
Subepidermal autoimmune bullous diseases of the skin and mucosae comprise a large group of chronic diseases, including bullous pemphigoid, pemphigoid gestationis, mucous membrane pemphigoid, linear IgA bullous dermatosis, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. These diseases are characterized by an antibody response toward structural components of the basement membrane zone, resulting in subepidermal blistering. The epidemiological features of these diseases vary substantially in different regions of the world...
November 21, 2017: Immunologic Research
https://www.readbyqxmd.com/read/29158163/identification-of-tissue-damage-extracellular-matrix-remodeling-and-bacterial-challenge-as-common-mechanisms-associated-with-high-risk-cutaneous-squamous-cell-carcinomas
#3
Melanie C Föll, Matthias Fahrner, Christine Gretzmeier, Käthe Thoma, Martin L Biniossek, Dimitra Kiritsi, Frank Meiss, Oliver Schilling, Alexander Nyström, Johannes S Kern
In this study we used a genetic extracellular matrix (ECM) disease to identify mechanisms associated with aggressive behavior of cutaneous squamous cell carcinoma (cSCC). cSCC is one of the most common malignancies and usually has a good prognosis. However, some cSCCs recur or metastasize and cause significant morbidity and mortality. Known factors that are associated with aggressiveness of cSCCs include tumor grading, size, localization and microinvasive behavior. To investigate molecular mechanisms that influence biologic behavior we used global proteomic and histologic analyses of formalin-fixed paraffin-embedded tissue of primary human cSCCs...
November 17, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29152226/an-overview-of-the-cutaneous-porphyrias
#4
REVIEW
Robert Dawe
This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature. The cutaneous porphyrias are a diverse group of conditions due to inherited or acquired enzyme defects in the porphyrin-haem biosynthetic pathway. All the cutaneous porphyrias can have (either as a consequence of the porphyria or as part of the cause of the porphyria) involvement of other organs as well as the skin...
2017: F1000Research
https://www.readbyqxmd.com/read/29138120/recessive-mutation-in-tetraspanin-cd151-causes-kindler-syndrome-like-epidermolysis-bullosa-with-multi-systemic-manifestations-including-nephropathy
#5
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Hamid Reza Mahmoudi, Andrew Touati, Maryam Abiri, Abdol-Mohammad Kajbafzadeh, Sophia Aristodemou, Lu Liu, John A McGrath, Adam Ertel, Eric Londin, Ariana Kariminejad, Sirous Zeinali, Paolo Fortina, Jouni Uitto
Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanen CD151 expressed in keratinocytes at the dermal-epidermal junction. The NGS panel was applied to a cohort of 92 consanguineous families of unknown subtype of EB. In one family, a homozygous donor splice site mutation in CD151 (NM_139029; c.351+2T>C) at the exon 5/intron 5 border was identified, and RT-PCR and whole transcriptome analysis by RNA-seq confirmed deletion of the entire exon 5 encoding 25 amino acids...
November 11, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29136295/genome-wide-association-study-identifies-galc-as-susceptibility-gene-for-mucous-membrane-pemphigoid
#6
C D Sadik, J Bischof, N van Beek, A Dieterich, S Benoit, M Sárdy, M Worm, S Meller, R Gläser, D Zillikens, B Homey, J Setterfield, D Minassian, E Schmidt, J Dart, S M Ibrahim
BACKGROUND: Mucous membrane pemphigoid (MMP) is a rare, chronic, and often aggressive subepidermal autoimmune blistering disease potentially affecting several mucous membranes with blisters and secondary erosions and scars. The pathogenesis of MMP is poorly understood, and the contribution of genetic predispositions, other than HLA class II allele variants to MMP, is unknown. OBJECTIVES: The objective of this study is to identify susceptibility genes for MMP in a British cohort of MMP patients...
November 14, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/29136066/unsuspected-lymphomatoid-granulomatosis-in-a-patient-with-antisynthetase-syndrome
#7
Stephanie L Skala, Alexandra C Hristov, Johann E Gudjonsson, May P Chan
Clinical diagnosis of lymphomatoid granulomatosis (LYG) often is difficult, especially in patients with multiple comorbidities. We present a 60-year-old woman with worsening fatigue, night sweats, unintentional weight loss, and dyspnea of 2 weeks' duration. Her medical history was remarkable for recent radiation therapy for recurrent breast cancer and antisynthetase syndrome complicated by interstitial lung disease and controlled with azathioprine. Computed tomography showed ground-glass opacities and nodular infiltrates in all lung lobes, raising concern for radiation pneumonitis and drug toxicity...
October 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29131038/bullous-diseases
#8
Caroline Corbaux, Pascal Joly
Autoimmune bullous diseases are a heterogeneous group of blistering diseases affecting the skin and/or mucous membrane. Systemic corticosteroids, which are often associated with immunosuppressants, are the main treatment option for these diseases. The 2 main biologics used in the treatment of autoimmune bullous diseases are rituximab, especially in pemphigus and mucous membrane pemphigoid, and omalizumab in bullous pemphigoid. Rituximab is a promising therapeutic option in pemphigus and mucous membrane pemphigoid...
2018: Current Problems in Dermatology
https://www.readbyqxmd.com/read/29130480/antidesmoglein-1-and-3-antibodies-in-healthy-subjects-of-a-population-in-the-peruvian-high-amazon
#9
Willy Ramos, Jesús Díaz, Ericson L Gutierrez, Jose S Lazarte, Mary C Bohnett, Gerardo Ronceros, Alex G Ortega-Loayza
BACKGROUND: The objective of this study was to determine the presence of anti-Dsg1 and Dsg3 antibodies in healthy subjects of the high Peruvian Amazon (Tuemal, Rodriguez de Mendoza province, department of Amazonas) to establish the theoretical presence of environmental factors or triggers in the area. MATERIALS AND METHODS: Cross-sectional study. The study population included persons of any age or gender, clinically healthy, who were evaluated by a dermatologist to confirm the absence of blistering diseases...
November 11, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/29124728/generating-new-evidence-improving-clinical-practice-and-developing-research-capacity-the-benefits-of-recruiting-to-the-u-k-dermatology-clinical-trials-network-s-stop-gap-and-blister-trials
#10
J M Batchelor, A Chapman, F E Craig, K E Harman, G Kirtschig, A Martin-Clavijo, A D Ormerod, S Walton, H C Williams
Clinical trials may benefit clinical practice in three ways: firstly, clinicians may change their practice according to the new trial evidence; secondly, clinical processes can improve when working on a trial; and thirdly, research capacity is increased. We held a meeting to present and discuss the results of two large multicentre randomized controlled trials delivered through the U.K. Dermatology Clinical Trials Network. Investigators gave reflections on how the trials had changed their clinical practice. The STOP GAP trial showed that prednisolone and ciclosporin are equally effective as first-line systemic treatment for pyoderma gangrenosum...
November 10, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/29124691/polymorphous-light-eruption
#11
Marcella Guarrera
Polymorphous light eruption (PLE) is the commonest immuno-mediated photodermatosis. It occurs after solar or artificial UV-light exposure and affects only the sun-exposed areas with preference of the V-area of the chest, of arms and forearms, legs, upper part of the back, and rarely the face. The lesions are itching or burning, and vary morphologically from erythema to papules, vesico-papules and occasionally blisters, plaques, sometimes erythema multiforme-like, insect bite-like wheals and purpura. The clinical manifestations befall within a few hours to days from light exposure, last a few days, and subside in about a week without sequelae...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29122906/safety-netting-versus-overtreatment-in-paediatrics-viral-infection-or-incomplete-kawasaki-disease
#12
Jennifer Michelle Charlesworth, Bernadette Power, Edina Moylett
Kawasaki disease (KD) is the most common systemic vasculitis of childhood. The following presentation of a 4-year-old Irish boy referred to a secondary care paediatric service from the community with prolonged fever, oral mucous membrane changes and painless blistering lesions of the hands and feet in the presence of elevated inflammatory markers serves as an opportunity to discuss the diagnostic criteria and treatment for KD and incomplete KD, an often missed diagnosis with significant paediatric morbidity outside an academic paediatric centre...
November 8, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29114967/effect-of-intravenous-immunoglobulin-administration-on-erythrocyte-and-leukocyte-parameters
#13
A Cicha, M B Fischer, A Wesinger, S Haas, W M Bauer, H M Wolf, K M T Sauerwein, B Reininger, P Petzelbauer, H Pehamberger, A Handisurya
BACKGROUND: Intravenous immunoglobulins (IVIG) are an attractive therapeutic tool for therapy of toxic epidermal necrolysis and severe forms of certain autoimmune diseases, including dermatomyositis, autoimmune blistering diseases, systemic vasculitis, and lupus erythematodes. OBJECTIVE: Prompted by a case of IVIG-associated haemolytic anaemia, the effects of IVIG administrations on haematological parameters in patients with dermatological conditions were investigated...
November 8, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29110080/pemphigus-trigger-factors-special-focus-on-pemphigus-vulgaris-and-pemphigus-foliaceus
#14
REVIEW
Soheil Tavakolpour
Pemphigus is a general term for a rare group of autoimmune diseases which result in the formation of blisters on the skin and oral cavity. Although there is no way to prevent autoimmune diseases, some factors may trigger pemphigus initiation in susceptible individuals or be exacerbated in affected patients. Recognition of these triggers, based on the latest studies and experiences is essential and should be updated every few years. In this study, several triggers, including different drugs and treatments, diseases, vaccines, genetic factors, nutrients, micronutrients, pregnancy, stress, and various other triggers have been discussed...
November 6, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/29105148/biomarkers-related-to-bullous-pemphigoid-activity-and-outcome
#15
REVIEW
Delphine Giusti, Sébastien Le Jan, Gregory Gatouillat, Philippe Bernard, Bach Nga Pham, Frank Antonicelli
Bullous pemphigoid (BP) is the most common autoimmune sub-epidermal blistering disease of the skin. Investigation of the BP-associated pathophysiological processes during the last decades showed that the generation of auto-antibodies directed against the hemidesmosome proteins BP180 and BP230, a hallmark of the BP-associated autoimmune response, leads to the recruitment of inflammatory immune cells at the dermal-epidermal junction, and subsequently to the release of a large amount of inflammatory molecules involved in blister formation...
November 3, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/29096849/successful-and-well-tolerated-bi-weekly-immunoadsorption-regimen-in-pemphigus-vulgaris
#16
Jenny Dietze, Bernd Hohenstein, Sergey Tselmin, Ulrich Julius, Stefan R Bornstein, Stefan Beissert, Claudia Günther
BACKGROUND: Pemphigus vulgaris is a chronic autoimmune disease characterized by blisters and erosions forming in the mucous membranes and the skin. Many patients are severely impaired by pain, weight loss and increased risk of infections. The disease is mediated by specific autoantibodies directed against desmogleins that contribute to connect keratinocytes in the epidermis. Autoantibody deposition in the skin causes inflammation and intraepidermal akantholysis. The concentration of autoantibodies in serum correlates with disease activity...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29080682/threonine-150-phosphorylation-of-keratin-5-is-linked-to-ebs-and-regulates-filament-assembly-and-cell-viability
#17
Mugdha Sawant, Nicole Schwarz, Reinhard Windoffer, Thomas M Magin, Jan Krieger, Norbert Mücke, Boguslaw Obara, Vera Jankowski, Joachim Jankowski, Verena Wally, Thomas Lettner, Rudolf E Leube
A characteristic feature of the skin blistering disease epidermolysis bullosa simplex (EBS) is keratin filament (KF) network collapse caused by aggregation of the basal epidermal keratin type II (KtyII) K5 and its type I partner keratin 14 (K14). Here, we examine the role of keratin phosphorylation in KF network rearrangement and cellular functions. We detect phosphorylation of the K5 head domain residue T150 in cytoplasmic EBS granules containing R125C K14 mutants. Expression of phosphomimetic T150D K5 mutants results in impaired KF formation in keratinocytes...
October 25, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29080321/oral-manifestations-as-the-main-feature-of-late-onset-recessive-dystrophic-epidermolysis-bullosa
#18
Franziska Schauer, Julia Hoffmann, Judith Fischer, Cristina Has
Dystrophic epidermolysis bullosa (EB) is a heterogeneous group of inherited blistering diseases with skin cleavage beneath the basement membrane caused by mutations in COL7A1, encoding collagen VII (1). Clinical features include skin and mucosal blistering and scarring, and cover a broad range of degrees of severity. Clinical manifestations of severe generalized dystrophic EB due to loss-of-function mutations are typical, allowing a clinical diagnosis. This article is protected by copyright. All rights reserved...
October 28, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29071428/ige-autoantibodies-and-their-association-with-the-disease-activity-and-phenotype-in-bullous-pemphigoid-a-systematic-review
#19
REVIEW
Ariadne Hadjikyriacou Saniklidou, Patrick J Tighe, Lucy C Fairclough, Ian Todd
Bullous pemphigoid (BP) is the most common autoimmune skin disease of blistering character. The underlying pathophysiological mechanism involves an immune attack, usually by IgG class autoantibodies, on the autoantigen BP 180/BPAg2, which is a type XVII collagen (COL17) protein acting as the adhesion molecule between the epidermis and the basement membrane of the dermis. About 40 years ago, following consistent findings of elevated total serum IgE levels in BP patients, it was hypothesized that IgE may be involved in the pathophysiology of BP...
October 25, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/29071023/the-effect-of-low-level-laser-therapy-on-pemphigus-vulgaris-lesions-a-pilot-study
#20
Maryam Yousef, Parvin Mansouri, Masoud Partovikia, Mitra Esmaili, Shima Younespour, Ladan Hassani
Introduction: Pemphigus vulgaris is a chronic blistering skin disease. Management of recalcitrant pemphigus ulcers is a great problem. Low Level Laser Therapy (LLLT) is known to supply direct biostimulative light energy to body cells. This study evaluates the efficacy of low power laser in the healing of pemphigus lesions. Methods: Ten patients with pemphigus vulgaris were enrolled in the trial. The LED-LLLT system used was the Thor LED clusters (109, 69 or 19 diode) (England) with 660 nm wavelength in continuous wave (CW) and 30 mW energy...
2017: Journal of Lasers in Medical Sciences
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