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https://www.readbyqxmd.com/read/28079922/iga-tracheobronchial-deposits-underlie-respiratory-compromise-in-neonatal-linear-iga-bullous-dermatosis
#1
A Diociaiuti, G Zambruno, F Diomedi Camassei, G Di Zenzo, I Capolupo, F Stoppa, V Forziati, M El Hachem
The childhood variant of linear IgA bullous dermatosis (LABD) is characterized by blistering lesions of the perineum and perioral area with an annular or "rosette-like" arrangement, in addition to the pathognomonic linear IgA deposits along the cutaneous basement membrane zone (BMZ).(1) The disease mainly occurs in preschool children.(1) However, a handful of neonatal cases have been described, most of them presenting with severe mucosal involvement.(2-8) We report an additional case of neonatal LABD with life-threatening respiratory tract manifestations...
January 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28079339/survey-of-bullous-pemphigoid-in-an-italian-university-hospital-clinical-epidemiological-characteristics-and-follow-up
#2
Riccardo Balestri, Giulia Odorici, Annalisa Patrizi, Salvatore D Infusino, Michela Magnano, Federico Bardazzi
BACKGROUND: The clinical-epidemiological characteristics and course of bullous pemphigoid in the general population is not clear. Few studies have been performed to date, and only one in the Italian population more than ten years ago. We decided to evaluate the characteristics and outcome of patients admitted for a bullous pemphigoid at our Hospital in the last 4 years. METHODS: We retrospectively review the last 4 years' medical records of the Department of Dermatology of the University of Bologna, identifying all patients with histological and immunological data typical for bullous pemphigoid...
January 12, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28064226/salivary-samples-for-the-diagnosis-of-pemphigus-vulgaris-using-the-biochip-approach-a-pilot-study
#3
Irene Russo, Andrea Saponeri, Anna Michelotto, Mauro Alaibac
Pemphigus vulgaris (PV) is a rare autoimmune intraepithelial blistering skin disease characterized by the presence of circulating autoantibodies against desmoglein 3 (DSG3) and desmoglein 1 (DSG1), resulting in loss of the normal epithelial cell-to-cell adhesion, through a process called acantholysis. In recent years, a BIOCHIP-based indirect immunofluorescence technique for the determination of anti-DSG3 and anti-DSG1 autoantibodies has been described. Even though, the use of saliva anti-DSG3 and anti-DSG1 ELISA for the diagnosis of PV has been already reported, there are no studies concerning the utilization of saliva by the BIOCHIP approach...
January 2017: In Vivo
https://www.readbyqxmd.com/read/28045749/histologic-assessment-of-lichenoid-dermatitis-observed-in-patients-with-advanced-malignancies-on-antiprogramed-cell-death-1-anti-pd-1-therapy-with-or-without-ipilimumab
#4
Shaun Chou, Shelley Ji Eun Hwang, Giuliana Carlos, Deepal Wakade, Pablo Fernandez-Penas
Lichenoid drug reaction is a common adverse reaction in patients taking immune-modulatory agents such as antiprogramed cell death (PD-1) and cytotoxic T lymphocyte antigen-4 agents. The authors describe the clinical and histologic features of lichenoid drug reaction in 20 biopsies from 15 patients on anti-PD-1 agents and 9 biopsies from 7 patients on anti-PD-1 plus ipilimumab therapy. Clinically, all except 2 patients presented with discrete, violaceous exanthematous papules to plaques. The lichenoid inflammation in the majority (18 of 29 biopsies) was florid although histology was quite heterogeneous...
January 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28038889/periodontitis-in-oral-pemphigus-and-pemphigoid-a-systematic-review-of-published-studies
#5
REVIEW
Isabella Jascholt, Olivia Lai, Detlef Zillikens, Michael Kasperkiewicz
Periodontitis and autoimmune bullous diseases, including pemphigus vulgaris and mucous membrane pemphigoid, are immunoinflammatory disorders leading to microbial plaque- and autoantibody-elicited tissue injury of the oral cavity, respectively. Evidence indicates that these autoimmune conditions may represent a risk factor for periodontitis, but no systematic evaluation exists to corroborate this assumption. A systematic literature review of periodontal status in pemphigus and pemphigoid was conducted. Electronic searches using PubMed from inception to July 2016 identified 10 studies meeting predetermined inclusion and exclusion criteria...
December 28, 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28038887/prospective-studies-on-the-routine-use-of-a-novel-multivariant-enzyme-linked-immunosorbent-assay-for-the-diagnosis-of-autoimmune-bullous-diseases
#6
Nina van Beek, Cornelia Dähnrich, Nora Johannsen, Susanne Lemcke, Stephanie Goletz, Franziska Hübner, Giovanni Di Zenzo, Marian Dmochowski, Kossara Drenovska, Shamir Geller, Michael Horn, Cezary Kowalewski, Ljiljana Medenica, Dedee F Murrell, Aikaterini Patsatsi, Soner Uzun, Snejina Vassileva, Detlef Zillikens, Wolfgang Schlumberger, Enno Schmidt
BACKGROUND: Serologic diagnosis of autoimmune blistering disease (AIBD) usually follows a sophisticated multistep algorithm. OBJECTIVE: We sought validation of a multivariant enzyme-linked immunosorbent assay (ELISA) in the routine diagnosis of AIBD. METHODS: The multivariant ELISA comprising 6 recombinant immunodominant forms of major AIBD target antigens, ie, desmoglein 1, desmoglein 3, envoplakin, BP180, BP230, and type VII collagen was applied in: (1) a cohort of well-characterized AIBD (n = 173) and control sera (n = 130), (2) a prospective multicenter study with 204 sera from patients with newly diagnosed AIBD with positive direct immunofluorescence microscopy, and (3) a prospective monocenter study with 292 consecutive sera from patients with clinical suspicion of AIBD in comparison with the conventional multistep diagnostic algorithm...
December 28, 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28032340/the-burden-of-common-skin-diseases-assessed-with-the-eq5d-a-european-multi-centre-study-in-13-countries
#7
F Balieva, J Kupfer, L Lien, U Gieler, A Y Finlay, L Tomas-Aragonés, F Poot, L Misery, F Sampogna, H van Middendorp, J A Halvorsen, J C Szepietowski, A Lvov, S E Marrón, M S Salek, F J Dalgard
BACKGROUND: Generic instruments measuring health related quality of life (HRQoL), like EQ5D, enable comparison of skin diseases with healthy populations and non-dermatological medical conditions, as well as calculation of utility data. OBJECTIVES: The aims were to measure HRQoL in patients with common skin diseases and healthy controls across Europe using the EQ5D. METHODS: This multi-center observational cross-sectional study was conducted in 13 European countries...
December 29, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/28030659/rituximab-treatment-for-recalcitrant-dermatitis-herpetiformis
#8
Lauren N Albers, John J Zone, Benjamin K Stoff, Ron J Feldman
Importance: Dermatitis herpetiformis (DH) is an autoimmune blistering condition seen in the context of celiac disease. While typically managed by gluten-free diet and dapsone, treatment of DH refractory to standard treatments is not well defined. Observations: A man in his 80s with DH not controlled by gluten-free diet (with poor adherence), dapsone, and conventional immune-suppressing agents responded to treatment with rituximab according to the lymphoma protocol (4 weekly infusions of 375 mg/m2)...
December 28, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/28028858/mid-face-toddler-excoriation-syndrome-mites-a-new-paediatric-diagnosis
#9
S M Srinivas, V K Gowda, C M Owen, C Moss, R Hiremagalore
Chronic ulcerating lesions on the face are rarely seen in toddlers. Blistering disease, vasculitis, infections and self-mutilation due to neurometabolic disease can usually be excluded on clinical and histological grounds. In the absence of identifiable disease, such lesions are sometimes attributed to child abuse or fabricated illness. We describe three toddlers with chronic mid-face erosions, two from India and one from the UK. One had moderate developmental delay and one had had seizures. The lesions appeared to be self-inflicted, no underlying disease was identified and there was no suspicion of child abuse...
January 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28024684/non-pathogenic-pemphigus-foliaceus-pf-igg-acts-synergistically-with-a-directly-pathogenic-pf-igg-to-increase-blistering-by-p38mapk-dependent-desmoglein-1-clustering
#10
Kenji Yoshida, Ken Ishii, Atsushi Shimizu, Mariko Yokouchi, Masayuki Amagai, Ken Shiraishi, Yuji Shirakata, John R Stanley, Akira Ishiko
BACKGROUND: Pemphigus foliaceus (PF) is an autoimmune blistering disease caused by autoantibodies (Abs) against desmoglein 1 (Dsg1). PF sera contain polyclonal Abs which are heterogeneous mixture of both pathogenic and non-pathogenic Abs, as shown by isolation of monoclonal Abs (mAbs). OBJECTIVE: To investigate how pathogenic and non-pathogenic anti-Dsg1 Abs contribute to blister formation in PF. METHODS: Using organ-cultured human skin, we compared the effect of a single pathogenic anti-Dsg1 IgG mAb, a single non-pathogenic anti-Dsg1 IgG mAb, and their mixture on blister formation as analyzed by histology, subcellular localization of IgG deposits and desmosomal proteins by confocal microscopy, and desmosomal structure by electron microscopy...
December 12, 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28011147/interleukin-15-is-associated-with-severity-and-mortality-in-stevens-johnson-syndrome-toxic-epidermal-necrolysis
#11
Shih-Chi Su, Maja Mockenhaupt, Pierre Wolkenstein, Ariane Dunant, Sabine Le Gouvello, Chun-Bing Chen, Olivier Chosidow, Laurence Valeyrie-Allanore, Teresa Bellon, Peggy Sekula, Chuang-Wei Wang, Martin Schumacher, Sylvia H Kardaun, Shuen-Iu Hung, Jean-Claude Roujeau, Wen-Hung Chung
Early diagnosis and prognosis monitoring for Stevens-Johnson syndrome (SJS)/ toxic epidermal necrolysis (TEN) still remain a challenge. This study aims to explore any cytokine/chemokine with prognostic potential in SJS/TEN. Through screening a panel of 28 serological factors, IL-6, IL-8, IL-15, TNF-α, and granulysin were upregulated in SJS/TEN patients and selected for the further validation in total 155 SJS/TEN patients, including 77 from Taiwan and 78 from RegiSCAR (the Registry of Severe Cutaneous Adverse Reactions)...
December 20, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28010761/research-techniques-made-simple-mouse-models-of%C3%A2-autoimmune-blistering-diseases
#12
Robert Pollmann, Rüdiger Eming
Autoimmune blistering diseases are examples of autoantibody-mediated, organ-specific autoimmune disorders. Based on a genetic susceptibility, such as a strong HLA-class II association, as yet unknown triggering factors induce the formation of circulating and tissue-bound autoantibodies that are mainly directed against adhesion structures of the skin and mucous membranes. Compared with other autoimmune diseases, especially systemic disorders, the pathogenicity of autoimmune blistering diseases is relatively well described...
January 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28005817/pemphigus-vulgaris-how-to-perform-an-oral-biopsy-properly
#13
Aneliza de Fatima Moraes da Silva, Daniel Galera Bernabé, Glauco Issamu Miyahara, Eder Ricardo Biasoli, Renata Callestini, Kellen Cristine Tjioe
Oral biopsy of vesiculobullous diseases such as pemphigus vulgaris often raises questions due to some particularities involving this procedure. The adequate selection of the area to be biopsied defines if the final diagnosis will be reached, being the Achiles heel of the proper management of the patient. Here, the authors report a case of a woman who sought for treatment of generalized oral blisters and ulcers that caused severe pain. She had undergone a previous biopsy by other professionals that was inconclusive...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28003921/bullous-dermatosis-in-an-end-stage-renal-disease-patient-a-case-report-and-literature-review
#14
Zeenat Yousuf Bhat, Marwan Abu Minshar, Nashat Imran, Andrew Thompson, Yahya Osman Malik
Patients with advanced chronic kidney disease including ESRD patients may present with a wide spectrum of cutaneous abnormalities, ranging from xerosis to hyperpigmentation to severe deforming necrotizing lesions. Skin problems are not uncommon in this population of patients, with a clinical presentation that can be quite bizarre, mandating a long list of differential diagnostic possibilities, and subsequent rise of a puzzling diagnostic challenge. We describe an ESRD patient who presented with blistering, nonhealing ulcerative lesions with a diagnostic skin biopsy revealing a mixed pattern of linear IgA bullous dermatosis and dermatitis herpetiformis...
2016: Case Reports in Nephrology
https://www.readbyqxmd.com/read/28003770/advances-in-the-management-of-erythropoietic-protoporphyria-role-of-afamelanotide
#15
REVIEW
Ashley M Lane, Jerome T McKay, Herbert L Bonkovsky
Erythropoietic protoporphyria (EPP) and the phenotypically similar disease X-linked protoporphyria (XLPP) are inherited cutaneous porphyrias characterized clinically by acute non-blistering photosensitivity, intolerance to sunlight, and significantly reduced quality of life. They are due to marked overproduction of protoporphyrin (PP) chiefly by erythroblasts and reticulocytes. In EPP, the underlying genetic defect is in the ferrochelatase gene, which encodes the final enzyme in the heme synthetic pathway. In XLPP, the genetic defect is a gain-of-function mutation, usually a four-base deletion, in the gene that encodes the enzyme 5-aminolevulinic acid synthase-2, the first and rate-controlling enzyme of heme synthesis in developing red blood cells...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27999842/reduced-skin-blistering-in-experimental-epidermolysis-bullosa-acquisita-after-anti-tnf-treatment
#16
Misa Hirose, Anika Kasprick, Foteini Beltsiou, Katharina Schulze Dieckhoff, Franziska Sophine Schulze, Unni Kjsrl Samavedam, Jennifer E Hundt, Hendri H Pas, Marcel F Jonkman, Enno Schmidt, Kathrin Kalies, Detlef Zillikens, Ralf J Ludwig, Katja Bieber
Epidermolysis bullosa acquisita (EBA) is a difficult-to-treat subepidermal autoimmune blistering skin disease (AIBD) with circulating and tissue-bound anti-type VII collagen antibodies. Different reports have indicated an increased concentration of tumor necrosis factor alpha (TNF) in the serum and blister fluid of patients with subepidermal AIBDs. Furthermore, successful anti-TNF treatment has been reported for individual patients with AIBDs. Here, we show that in mice, induction of experimental EBA by repeated injections of rabbit-anti mouse type VII collagen antibodies led to increased expression of TNF in skin, as determined by real-time PCR and immunohistochemistry...
December 20, 2016: Molecular Medicine
https://www.readbyqxmd.com/read/27999358/review-of-toxic-epidermal-necrolysis
#17
REVIEW
Victoria Harris, Christopher Jackson, Alan Cooper
Toxic epidermal necrolysis (TEN) is a rare but life threatening mucocutaneous reaction to drugs or their metabolites. It is characterised by widespread keratinocyte apoptosis and sloughing of the skin, erosions of the mucous membranes, painful blistering, and severe systemic disturbance. The pathophysiology of TEN is incompletely understood. Historically, it has been regarded as a drug-induced immune reaction initiated by cytotoxic lymphocytes via a human leukocyte antigen (HLA)-restricted pathway. Several mediators have been identified as contributors to the cell death seen in TEN, including; granulysin, soluble Fas ligand, perforin/granzyme, tumour necrosis factor-α (TNF-α), and TNF-related apoptosis-inducing ligand...
December 18, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27995619/idiopathic-linear-iga-bullous-dermatosis-prognostic-factors-based-on-a-case-series-of-72-adults
#18
J Gottlieb, S Ingen-Housz-Oro, M Alexandre, S Grootenboer-Mignot, F Aucouturier, E Sbidian, E Tancrede, P Schneider, E Regnier, C Picard-Dahan, E Begon, C Pauwels, K Cury, S Hüe, C Bernardeschi, N Ortonne, F Caux, P Wolkenstein, O Chosidow, C Prost-Squarcioni
BACKGROUND: Linear IgA bullous dermatosis (LABD) is a clinically and immunologically heterogeneous, subepidermal, autoimmune blistering disease (AIBD), whose long-term evolution is poorly described. OBJECTIVES: To investigate the clinical and immunological characteristics, follow-up and prognostic factors of adult idiopathic LABD. METHODS: This retrospective study, conducted in our AIBD Referral Center, included adults, diagnosed between 1995 and 2012, with idiopathic LABD, defined as pure or predominant IgA deposits by direct immunofluorescence...
December 20, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27992468/genetic-diversity-and-population-structure-of-whitebark-pine-pinus-albicaulis-engelm-in-western-north-america
#19
Jun-Jun Liu, Richard Sniezko, Michael Murray, Ning Wang, Hao Chen, Arezoo Zamany, Rona N Sturrock, Douglas Savin, Angelia Kegley
Whitebark pine (WBP, Pinus albicaulis Engelm.) is an endangered conifer species due to heavy mortality from white pine blister rust (WPBR, caused by Cronartium ribicola) and mountain pine beetle (Dendroctonus ponderosae). Information about genetic diversity and population structure is of fundamental importance for its conservation and restoration. However, current knowledge on the genetic constitution and genomic variation is still limited for WBP. In this study, an integrated genomics approach was applied to characterize seed collections from WBP breeding programs in western North America...
2016: PloS One
https://www.readbyqxmd.com/read/27989960/a-type-vii-collagen-subdomain-mutant-is-thermolabile-and-shows-enhanced-proteolytic-degradability-implications-for-the-pathogenesis-of-recessive-dystrophic-epidermolysis-bullosa
#20
Cordula Windler, Ulrike Hermsdorf, Jürgen Brinckmann, Karsten Seeger
Type VII collagen is the major constituent of anchoring fibrils. It has a central collagenous domain that is surrounded by a small C-terminal non-collagenous domain (NC2) and a large N-terminal non-collagenous (NC1) domain. Mutations in type VII collagen can lead to hereditary skin blistering disease dystrophic epidermolysis bullosa (DEB). Most of the pathogenic missense mutations are within the collagenous domain. NC1 domain mediates interactions with other extracellular matrix molecules and only very few missense mutations within NC1 causing DEB have been reported...
October 27, 2016: Biochimica et Biophysica Acta
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