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Epidermolysis bullosa

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https://www.readbyqxmd.com/read/29033814/a-case-of-aplasia-cutis-congenita-type-vi-bart-syndrome
#1
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
#2
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
#3
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/28967267/-epidermolysis-bullosa-oral-manifestations-and-their-treatments
#4
Balázs Károly Barna, Gabriella Eördegh, Gyula Iván, József Piffkó, Pálma Silló, Márk Antal
The aim of this comprehensive article is to provide guidelines for the daily treatment of patients with epidermolysis bullosa, thus contributing to the attainment of their higher quality of life through the improvement of their oral health. Moreover, it is our intention to facilitate the cooperation among Hungarian general practitioners, dermatologists and dentists. Relying on recent research findings of the international literature, we intend to help general practitioners or dermatologists treating epidermolysis bullosa patients on a daily basis by identifying symptoms that require consulting an oral professional on the one hand, and to present the most important prevention strategies and further treatments advised for dentists on the other...
October 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28944966/inpatient-management-of-children-with-recessive-dystrophic-epidermolysis-bullosa-a-review
#5
REVIEW
Alvin W Li, Brea Prindaville, Scot T Bateman, Timothy E Gibson, Karen Wiss
Recessive dystrophic epidermolysis bullosa is a disorder marked by skin and mucosal blistering after minimal trauma. Even the most routine procedures in the hospital, if done incorrectly, can precipitate extensive skin loss, pain, and scarring. Most providers have little experience working with patients with this degree of skin fragility. When a person with recessive dystrophic epidermolysis bullosa is admitted to the hospital, there are multiple considerations to keep in mind while strategizing an effective care plan: avoidance of new blisters with a "hands-off" approach; careful consideration of all indwelling devices; symptomatic management of pain, itch, and anxiety; coordination of dressing changes; aggressive treatment of skin infections; environmental and staffing considerations; and awareness of other chronic complications that affect care, such as anemia, malnutrition, and chronic pain...
September 25, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28942362/calcitriol-treatment-ameliorates-inflammation-and-blistering-in-mouse-models-of-epidermolysis-bullosa-acquisita
#6
Stefan Tukaj, Katja Bieber, Mareike Witte, Saeedeh Ghorbanalipoor, Enno Schmidt, Detlef Zillikens, Ralf J Ludwig, Michael Kasperkiewicz
A link between hypovitaminosis D and development of autoimmune bullous disorders has been recently suggested, but this association has not been experimentally elaborated. Here, the role of vitamin D was investigated in epidermolysis bullosa acquisita (EBA), an anti-type VII collagen autoantibody-induced blistering skin disease. Oral administration of the hormonally active vitamin D metabolite calcitriol ameliorated clinical disease severity and dermal neutrophil infiltration in both an antibody transfer- and immunization-induced EBA mouse model...
September 20, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28941359/loss-of-interaction-between-plectin-and-type-xvii-collagen-results-in-epidermolysis-bullosa-simplex
#7
Ken Natsuga, Wataru Nishie, Machiko Nishimura, Satoru Shinkuma, Mika Watanabe, Kentaro Izumi, Hideki Nakamura, Yoshiaki Hirako, Hiroshi Shimizu
Plectin is a linker protein that interacts with intermediate filaments and β4 integrin in hemidesmosomes of the epidermal basement membrane zone (BMZ). Type XVII collagen (COL17) has been suggested as another candidate plectin binding partner in hemidesmosomes. Here, we demonstrate that plectin-COL17 binding helps to maintain epidermal BMZ organization. We identified an epidermolysis bullosa (EB) simplex patient as having markedly diminished expression of plectin and COL17 in skin. The patient is compound heterozygous for sequence variants in the plectin gene ( PLEC); one is a truncation and the other is a small in-frame deletion sequence variant...
September 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28940860/nanoparticles-prepared-from-porcine-cells-support-the-healing-of-cutaneous-inflammation-in-mice-and-wound-re-epithelialization-in-human-skin
#8
Natalia Kunz, Eva Hauenschild, Sebastian Maass, Kai-Uwe Kalies, Matthias Klinger, Melanie Barra, Lars Hecht, Franz Helbig, Stefan Soellner, Charles C Caldwell, Ralf J Ludwig, Jürgen Westermann, Kathrin Kalies
Previous reports have demonstrated that cell-derived nanoparticles (CDNPs) composed of bovine or porcine protein complexes exerted therapeutic effects against viral infections and cancer in mice and humans. Based on these observations, we asked whether CDNPs would improve inflammatory skin disorders. To address this, we utilized two distinct mouse models of cutaneous inflammation: the autoimmune skin blistering disease epidermolysis bullosa acquisita (EBA) as an example of an autoantibody-induced cutaneous inflammation, and Leishmania major (L...
September 23, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28940785/transglutaminases-in-autoimmune-and-inherited-skin-diseases-the-phenomena-of-epitope-spreading-and-functional-compensation
#9
REVIEW
Sarolta Kárpáti, Miklós Sárdy, Krisztián Németh, Balázs Mayer, Neil Smyth, Mats Paulsson, Heiko Traupe
Transglutaminases (TGs) are structurally and functionally related enzymes that modify the posttranslational structure and activity of proteins or peptides, and thus are able to turn on or switch off their function. Depending on location and activities, TGs are able to modify the signaling, the function and the fate of cells and extracellular connective tissues. Beside mouse models also human diseases enable us to appreciate the function of various TGs. In this paper skin diseases induced by genetic damages or autoimmune targeting of these enzymes will be discussed...
September 23, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28895441/successful-placement-of-a-baha-implant-in-a-patient-with-epidermolysis-bullosa-a-case-report-and-review-of-the-literature
#10
Jason R Brown, D Micah Milgraum, Farhaad R Riyaz, Marla N Jahnke, Prasad John Thottam
INTRODUCTION: Epidermolysis bullosa (EB) is a spectrum of mechanobullous disorders characterized by blistering following minor trauma or traction to the skin. Hearing loss in this population is poorly described in the otolaryngology literature, and its treatment oftentimes results in external auditory canal skin irritation. CASE PRESENTATION: We present the case of a 26-year-old female with EB and mixed hearing loss unable to wear conventional hearing aids due to sequelae of the external auditory canals...
September 1, 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28892093/rapid-generation-of-col7a1-mouse-model-of-recessive-dystrophic-epidermolysis-bullosa-and-partial-rescue-via-immunosuppressive-dermal-mesenchymal-stem-cells
#11
Beau R Webber, Kyle T O'Connor, Ron T McElmurry, Elise N Durgin, Cindy R Eide, Christopher J Lees, Megan J Riddle, Wendy E Mathews, Natasha Y Frank, Mark A Kluth, Christoph Ganss, Branden S Moriarity, Markus H Frank, Mark J Osborn, Jakub Tolar
Recessive dystrophic epidermolysis bullosa (RDEB) is a debilitating and ultimately lethal blistering disease caused by mutations to the Col7a1 gene. Development of novel cell therapies for the treatment of RDEB would be fostered by having immunodeficient mouse models able to accept human cell grafts; however, immunodeficient models of many genodermatoses such as RDEB are lacking. To overcome this limitation, we combined the clustered regularly interspaced short palindromic repeats and associated nuclease (CRISPR/Cas9) system with microinjection into NOD/SCID IL2rγc(null) (NSG) embryos to rapidly develop an immunodeficient Col7a1(-/-) mouse model of RDEB...
October 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28888469/cut-and-paste-efficient-homology-directed-repair-of-a-dominant-negative-krt14-mutation-via-crispr-cas9-nickases
#12
Thomas Kocher, Patricia Peking, Alfred Klausegger, Eva Maria Murauer, Josefina Piñón Hofbauer, Verena Wally, Thomas Lettner, Stefan Hainzl, Michael Ablinger, Johann Wolfgang Bauer, Julia Reichelt, Ulrich Koller
With the ability to induce rapid and efficient repair of disease-causing mutations, CRISPR/Cas9 technology is ideally suited for gene therapy approaches for recessively and dominantly inherited monogenic disorders. In this study, we have corrected a causal hotspot mutation in exon 6 of the keratin 14 gene (KRT14) that results in generalized severe epidermolysis bullosa simplex (EBS-gen sev), using a double-nicking strategy targeting intron 7, followed by homology-directed repair (HDR). Co-delivery into EBS keratinocytes of a Cas9 D10A nickase (Cas9n), a predicted single guide RNA pair specific for intron 7, and a minicircle donor vector harboring the homology donor template resulted in a recombination efficiency of >30% and correction of the mutant KRT14 allele...
August 24, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28887841/evidence-for-a-contributory-role-of-a-xenogeneic-immune-response-in-experimental-epidermolysis-bullosa-acquisita
#13
Markus Niebuhr, Michael Kasperkiewicz, Sebastian Maass, Eva Hauenschild, Katja Bieber, Ralf J Ludwig, Jürgen Westermann, Kathrin Kalies
Autoimmune diseases affect a large fraction of the population in Western countries. To elucidate the underlying causes, autoantibody transfer-induced mouse models have been established that greatly contributed to the understanding of the pathophysiology of these diseases. However, the role of a potentially co-occurring murine xenogeneic immune response to commonly utilized rabbit anti-mouse IgG remains poorly understood. Using the established rabbit anti-mouse type VII collagen (COL7) IgG-induced mouse model of the mucocutaneous blistering disorder epidermolysis bullosa acquisita (EBA), we found in this study a profound T and B cell response along with an altered cytokine expression profile in draining lymph nodes of mice injected with the xenogeneic IgG...
September 8, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28887824/structural-proteins-of-the-dermal-epidermal-junction-targeted-by-autoantibodies-in-pemphigoid-diseases
#14
REVIEW
Stephanie Goletz, Detlef Zillikens, Enno Schmidt
The dermal-epidermal junction consists of a network of several interacting structural proteins which strengthen adhesion and mediate signaling events. This structural network consists of hemidesmosomal-anchoring filament complexes connecting the basal keratinocytes to the basement membrane. The anchoring filaments in turn interact with the anchoring fibrils to attach the basement membrane to the underlying dermis. Several of these structural proteins are recognized by autoantibodies in pemphigoid diseases, a heterogeneous group of clinically and immunopathologically diverse entities...
September 8, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28872088/-clinical-characteristics-and-prognosis-for-126-patients-with-severe-drug-eruption
#15
Jie Li, Manyun Mao, Ni Tang, Rui Zhai, Wu Zhu, Mei Yi, Mingliang Chen
To explore the clinical characteristics of various types of severe drug eruption and common sensitized drugs, and to provide clinical references for reducing the incidence of severe drug eruption.
 Methods: The clinical data regarding 126 cases of severe drug eruption were analyzed retrospectively from June 2009 to May 2017 in Xiangya Hospital, Central South University.
 Results: In the 126 cases of severe drug eruption, the distribution of men and women ratio was 1:1.38. The length of stay was (12.7±9...
August 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28854309/determining-the-incidence-of-pneumocystis-pneumonia-in-patients-with-autoimmune-blistering-diseases-not-receiving-routine-prophylaxis
#16
Kyle T Amber, Aniek Lamberts, Farzan Solimani, Arianna F Agnoletti, Dario Didona, Ilona Euverman, Emanuele Cozzani, Lee Haur Yueh, Giovanni Di Zenzo, Yael Anne Leshem, Daniel Mimouni, Michael Hertl, Barbara Horvath
Importance: Pneumocystis pneumonia (PCP) is a potentially lethal opportunistic infection that primary prophylaxis can help prevent. The risk of prophylactic therapy must be weighed against the incidence of PCP in the patient population. Prophylaxis most frequently involves trimethoprim-sulfamethoxazole, with second-line therapies, including atovaquone, dapsone, and pentamide. The indication for prophylaxis in immunocompromised patients without HIV is less well defined. Previously, an incidence of at least 3...
August 30, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28853495/epidemiology-and-outcome-of-squamous-cell-carcinoma-in-epider-molysis-bullosa-in-australia-and-new-zealand
#17
Minhee Kim, Minmin Li, Lizbeth R A Intong-Wheeler, Kim Tran, Damian Marucci, Dedee F Murrell
We investigate the epidemiology and outcomes of squamous cell carcinoma (SCC) in recessive dystrophic epidermolysis bullosa (RDEB) from the Australasian EB registry cohort. Seventeen out of 49 (34.6%) RDEB patients developed at least one SCC. Data detailing SCC was obtainable from 16/17 RDEB-SCC patients. A total number of 161 primary SCCs occurred in 16 RDEB-SCC patients with an average of 10 SCCs per person. The earliest age of first SCC development was 16 years. Eleven out of 16 RDEB-SCC patients eventually developed metastatic SCCs...
August 30, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28832953/colchicine-an-ancient-drug-with-novel-applications
#18
REVIEW
B Dasgeb, D Kornreich, K McGuinn, L Okon, I Brownell, D L Sackett
Colchicine is a historic treatment for gout that has been used for more than a millennium. It is the treatment of choice for Familial Mediterranean Fever and its associated complication, amyloidosis. The 2009 FDA approval of colchicine as a new drug had research consequences. Recent investigations utilizing large cohorts of gout patients who have been taking colchicine for years have demonstrated novel applications within oncology, immunology, cardiology and dermatology. Some emerging dermatologic uses include the treatment of epidermolysis bullosa acquisita, leukocytoclastic vasculitis, aphthous stomatitis and others...
August 18, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28830826/multigene-next-generation-sequencing-panel-identifies-pathogenic-variants-in-patients-with-unknown-subtype-of-epidermolysis-bullosa-subclassification-with-prognostic-implications
#19
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Andrew Touati, Soheila Sotoudeh, Maryam Abiri, Mohammadreza Barzgar, Nessa Aghazadeh, Hamidreza Mahmoudi, Sara Norouz-Zadeh, Mohammad Hamid, Mahla Zahabiyon, Hamideh Bagherian, Sirous Zeinali, Paolo Fortina, Jouni Uitto
No abstract text is available yet for this article.
August 19, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28812281/preclinical-development-of-an-automated-injection-device-for-intradermal-delivery-of-a-cell-based-therapy
#20
Giulia Leoni, Alex Lyness, Patrick Ginty, Rindi Schutte, Gopalan Pillai, Gayatri Sharma, Paul Kemp, Natalie Mount, Michaela Sharpe
Current methods for intradermal delivery of therapeutic products in clinical use include manual injection via the Mantoux technique and the use of injection devices, primarily developed for the delivery of vaccines and small molecules. A novel automated injection device is presented specifically designed for accurate delivery of multiple doses of product through a number of adjustable injection parameters, including injection depth, dose volume and needle insertion speed. The device was originally conceived for the delivery of a cell-based therapy to patients with skin wounds caused by epidermolysis bullosa...
August 15, 2017: Drug Delivery and Translational Research
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