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https://www.readbyqxmd.com/read/29165796/international-bullous-diseases-group-consensus-on-diagnostic-criteria-for-epidermolysis-bullosa-acquisita
#1
REVIEW
C Prost-Squarcioni, F Caux, E Schmidt, M F Jonkman, S Vassileva, S C Kim, P Iranzo, M Daneshpazhooh, J Terra, J Bauer, J Fairley, R Hall, M Hertl, J S Lehman, B Marinovic, A Patsatsi, D Zillikens, V Werth, D T Woodley, D F Murrell
BACKGROUND: Epidermolysis bullosa acquisita (EBA) is a complex autoimmune bullous disease disease with variable clinical presentations and multiple possible diagnostic tests making an international consensus on diagnosis of EBA needed. OBJECTIVES: To obtain an international consensus on the clinical and diagnostic criteria for EBA. METHODS: The international bullous diseases group (IBDG) met three times to discuss the clinical and diagnostic criteria for EBA...
November 22, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/29159879/new-insights-into-pemphigoid-diseases
#2
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
#3
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
#4
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/29154993/serration-pattern-analysis-for-differentiating-epidermolysis-bullosa-acquisita-from-other-pemphigoid-diseases
#5
Joost M Meijer, Ingeborg Atefi, Gilles F H Diercks, Artem Vorobyev, Janny Zuiderveen, Hillegonda J Meijer, Hendri H Pas, Detlef Zillikens, Enno Schmidt, Marcel F Jonkman
BACKGROUND: Direct immunofluorescence microscopy (DIF) of a skin biopsy specimen is the reference standard for the diagnosis of pemphigoid diseases (PD). Serration pattern analysis enables differentiation of epidermolysis bullosa acquisita (EBA) from other PD using DIF microscopy alone. However, practice gaps need to be addressed for implication of this technique in daily routine diagnostics. OBJECTIVE: to determine and optimize the technical requirements for serration pattern analysis of DIF microscopy and determine inter-rater conformity of serration pattern analysis...
November 15, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29146128/validity-and-accuracy-of-a-mobile-phone-application-for-the-assessment-of-wounds-in-recessive-dystrophic-epidermolysis-bullosa
#6
J Nazaroff, D Solis, M Barriga, Y Dutt-Singkh, Li Shufeng, M P Marinkovich, J Y Tang
No abstract text is available yet for this article.
November 13, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29144448/regeneration-of-the-entire-human-epidermis-using-transgenic-stem-cells
#7
Tobias Hirsch, Tobias Rothoeft, Norbert Teig, Johann W Bauer, Graziella Pellegrini, Laura De Rosa, Davide Scaglione, Julia Reichelt, Alfred Klausegger, Daniela Kneisz, Oriana Romano, Alessia Secone Seconetti, Roberta Contin, Elena Enzo, Irena Jurman, Sonia Carulli, Frank Jacobsen, Thomas Luecke, Marcus Lehnhardt, Meike Fischer, Maximilian Kueckelhaus, Daniela Quaglino, Michele Morgante, Silvio Bicciato, Sergio Bondanza, Michele De Luca
Junctional epidermolysis bullosa (JEB) is a severe and often lethal genetic disease caused by mutations in genes encoding the basement membrane component laminin-332. Surviving patients with JEB develop chronic wounds to the skin and mucosa, which impair their quality of life and lead to skin cancer. Here we show that autologous transgenic keratinocyte cultures regenerated an entire, fully functional epidermis on a seven-year-old child suffering from a devastating, life-threatening form of JEB. The proviral integration pattern was maintained in vivo and epidermal renewal did not cause any clonal selection...
November 16, 2017: Nature
https://www.readbyqxmd.com/read/29138120/recessive-mutation-in-tetraspanin-cd151-causes-kindler-syndrome-like-epidermolysis-bullosa-with-multi-systemic-manifestations-including-nephropathy
#8
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/29120812/imaging-findings-in-systemic-childhood-diseases-presenting-with-dermatologic-manifestations
#9
REVIEW
Adam Z Fink, Julia K Gittler, Radhika N Nakrani, Jonathan Alis, Einat Blumfield, Terry L Levin
PURPOSE: Many childhood diseases often present with skin abnormalities with which radiologists are largely unfamiliar. Knowledge of associated dermatologic manifestations may aid the radiologist in confirming the diagnosis and recommending targeted imaging of affected organs. METHODS: We review the imaging findings in childhood diseases associated with dermatologic manifestations. FINDINGS: Diseases include dermatologic findings which herald underlying malignancy (Neuroblastoma, leukemia/lymphoma, Langerhans cell histiocytosis),are associated with risk of malignancy (Epidermolysis Bullosa, basal cell nevus syndrome, Cowden's syndrome, Tuberous Sclerosis),or indicate a systemic inflammatory/immune disorder (Kawasaki's disease, Henoch Schonlein Purpura, systemic lupus erythematosus, scleroderma, sarcoidosis, dermatomyositis and immune thrombocytopenic purpura)...
October 31, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/29105824/wound-culture-isolated-antibiograms-and-caregiver-reported-skin-care-practices-in-children-with-epidermolysis-bullosa
#10
Hannah M Singer, Laura E Levin, Maria C Garzon, Christine T Lauren, Paul J Planet, Nicole W Kittler, Susan Whittier, Kimberly D Morel
BACKGROUND/OBJECTIVES: Many patients with epidermolysis bullosa (EB) require intensive daily wound care and individualized treatment plans. Understanding patient's home skin care routines and emerging antibiotic resistance patterns in EB wounds is necessary to optimize treatment recommendations. The objective was to identify patterns of antimicrobial resistance in EB wounds and characterize patient's home practices of skin care and bathing. METHODS: This was an observational study of 23 children with EB at an outpatient pediatric dermatology practice in New York City from 2012 to 2014...
November 6, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29099638/type-1-boston-keratoprosthesis-for-limbal-stem-cell-deficiency-in-epidermolysis-bullosa
#11
N Geetha Sravani, Ashik Mohamed, Virender S Sangwan
No abstract text is available yet for this article.
November 3, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/29096942/-new-developments-in-the-management-of-congenital-epidermolysis-bullosa
#12
D Murrell
No abstract text is available yet for this article.
October 30, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29080682/threonine-150-phosphorylation-of-keratin-5-is-linked-to-ebs-and-regulates-filament-assembly-and-cell-viability
#13
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
#14
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/29069641/diagnosis-of-inherited-epidermolysis-bullosa-in-resource-limited-settings-immunohistochemistry-revisited
#15
Vamsi Krishna Yenamandra, Neetu Bhari, Subrata Basu Ray, Vishnubhatla Sreenivas, Amit Kumar Dinda, Vinod Scaria, Vinod Kumar Sharma, Gomathy Sethuraman
BACKGROUND: Immunofluorescence (IFM) antigen mapping is the most commonly used technique to diagnose and differentiate epidermolysis bullosa (EB). In India, IFM is limited to few research laboratories and is not readily available, making the diagnosis largely clinical and often inaccurate. Ob jective of the Study: To examine the diagnostic usefulness of immunohistochemistry (IHC) as compared to IFM in resource-limited settings. METHODS: Forty-four consecutive EB patients were included in this study...
October 26, 2017: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/29057428/the-pain-quality-assessment-scale-for-epidermolysis-bullosa
#16
Nicholas H B Schräder, Wing Y Yuen, Marcel F Jonkman
Pain is one of the most debilitating B symptoms in epidermolysis bullosa (EB) leading to reduced quality of life. Pain in EB comprises both neuropathic and non-neuropathic qualities. An assessment of pain qualities has not formerly been completed in EB. The Pain Quality Assessment Scale (PQAS) is an adjusted version of the validated Neuropathic Pain Scale and includes 20 pain qualities and descriptors. Patients with EB (n = 43) rated the pain qualities in the PQAS on 20 numerical scales and 1 multiple choice question...
October 23, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/29033814/a-case-of-aplasia-cutis-congenita-type-vi-bart-syndrome
#17
Yasmin Alfayez, Sahar Alsharif, Adel Santli
Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters that were consistent with epidermolysis bullosa in histopathological examination...
May 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/29024068/autosomal-recessive-epidermolysis-bullosa-simplex-due-to-krt14-mutation-two-large-palestinian-families-and-literature-review
#18
A Diociaiuti, D Castiglia, M Naim, A G Condorelli, G Zambruno, M El Hachem
Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by trauma-induced blister formation. Four major EB types are distinguished based on the level of blister formation within the skin: EB simplex (EBS), junctional EB, dystrophic EB, and Kindler syndrome(1) . EBS represents the most common type and is defined by intraepidermal cleavage. This article is protected by copyright. All rights reserved.
October 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28973459/an-rna-targeted-therapy-for-dystrophic-epidermolysis-bullosa
#19
Patricia Peking, Ulrich Koller, Blanca Duarte, Rodolfo Murillas, Susanne Wolf, Tobias Maetzig, Michael Rothe, Thomas Kocher, Marta García, Gabriele Brachtl, Axel Schambach, Fernando Larcher, Julia Reichelt, Johann W Bauer, Eva M Murauer
Functional impairment or complete loss of type VII collagen, caused by mutations within COL7A1, lead to the severe recessive form of the skin blistering disease dystrophic epidermolysis bullosa (RDEB). Here, we successfully demonstrate RNA trans-splicing as an auspicious repair option for mutations located in a wide range of exons by fully converting an RDEB phenotype in an ex vivo pre-clinical mouse model based on xenotransplantation. Via a self-inactivating (SIN) lentiviral vector a 3' RNA trans-splicing molecule, capable of replacing COL7A1 exons 65-118, was delivered into type VII collagen deficient patient keratinocytes, carrying a homozygous mutation in exon 80 (c...
September 29, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28967559/expanding-the-criteria-for-nipple-sparing-mastectomy-in-patients-with-poor-prognostic-features
#20
Priya Jadeja, Richard Ha, Christine Rohde, Jeffrey Ascherman, Robert Grant, Christine Chin, Eileen Connolly, Kevin Kalinsky, Sheldon Feldman, Bret Taback
BACKGROUND: In this study we aimed to review the outcomes of nipple-sparing mastectomy (NSM) in the setting of expanded criteria: previous breast surgery/irradiation, neoadjuvant chemotherapy (NAC), post-NSM irradiation, and to assess conversion to acceptable criteria after NAC. PATIENTS AND METHODS: In this single-institution institutional review board-approved retrospective review, we identified patients who underwent NSM after previous breast intervention or NAC from January 2010 to February 2017...
August 24, 2017: Clinical Breast Cancer
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