Results 31 to 40 of about 8,919 (185)

Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect. [PDF]

PLoS ONE, 2013
Dystrophic epidermolysis bullosa, a severely disabling hereditary skin fragility disorder, is caused by mutations in the gene coding for collagen VII, a specialized adhesion component of the dermal-epidermal junction zone.
Alexander Nyström, Jens Buttgereit, Michael Bader, Tatiana Shmidt, Cemil Ozcelik, Ingrid Hausser, Leena Bruckner-Tuderman, Johannes S Kern   +7 more
doaj   +1 more source

A Systematic Review of Topical and Systemic Gentamicin for Wound Healing in Patients With Junctional and Dystrophic Epidermolysis Bullosa

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Epidermolysis bullosa (EB) is an inherited mechanobullous genodermatosis caused by a mutation in genes encoding proteins integral to skin integrity. Premature termination codon readthrough therapies, such as gentamicin, have promise in facilitating full‐length protein expression in patients with EB.
Kelvin Truong, Joseph Joseph, Deborah Poh, Orli Wargon, Artiene Tatian   +4 more
wiley   +1 more source

Hereditary epidermolysis bullosa [PDF]

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2015
SummaryThe term epidermolysis bullosa (EB) includes a group of rare genodermatoses characterized by mutational impairment of the structural and functional integrity of intraepidermal adhesion and dermoepidermal anchorage. Clinically, these disorders are marked by increased skin fragility as well as characteristic mechanically inducible blisters on the ...
Martin, Laimer, Christine, Prodinger, Johann W, Bauer   +2 more
openaire   +2 more sources

Incidence of P200 pemphigoid: A nationwide study

Journal of the European Academy of Dermatology and Venereology, EarlyView.
The anti‐LAMB4 cell‐based immunoassay is a new serological technique that is far superior to dermal immunoblotting for detecting autoantibodies directed against the P200 protein. This method allows a re‐evaluation of the incidence of P200 pemphigoid, which appears to be considerably more frequent than epidermolysis bullosa acquisita.
Fabienne Jouen, Marion Carrette, Marie‐Laure Golinski, Maud Maho‐Vaillant, Alexis Lefebvre, André Gillibert, Pascal Joly, Vivien Hébert   +7 more
wiley   +1 more source

Reproductive alternatives for patients with dystrophic epidermolysis bullosa

Einstein (São Paulo)
Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which ...
Denise Maria Christofolini, José Ricardo Magliocco Ceroni, Giovanna Guimarães Soares, Gustavo Bertollini Lamy, Ana Carolina Nemeth Calvo, Tamara Alba dos Santos, Bianca Del Bel Sonoda, Bianca Bianco, Caio Parente Barbosa   +8 more
doaj   +1 more source

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

Epidermolysis bullosa: an exceptional cause of dysphagia

PAMJ Clinical Medicine, 2019
Epidermolysis bullosa is a genetically transmitted disorder characterized by skin blistering and scarring after minor traumatism, involves also internal organs that are lined with squamous epithelium.
Fouad Nejjari, Tarik Adioui, Hassan Doulhoussne, Iias Benchafii, Sarah Jamal, Ayoub Aoumari, Mouna Tamzaourte, Aziz Aourarh   +7 more
doaj   +1 more source

Expert consensus on oral management in autoimmune bullous diseases, erythema multiforme and SJS/TEN

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This international Delphi study achieved expert consensus on 58 statements guiding the management of oral involvement in autoimmune bullous diseases, erythema multiforme and SJS‐TEN. The recommendations emphasize multidisciplinary care, oral hygiene and tailored topical, systemic and inpatient oral management.
Shalini Nayee, Molly Harte, Saskia Ingen‐Housz‐Oro, Milad Ameri, Sarah Walsh, Pascal Joly, Michael Ardern‐Jones, Vlaho Brailo, Marie‐Charlotte Brueggen, Christopher Bunker, Barbara Carey, Marco Carrozzo, Ser‐Ling Chua, Daniel Creamer, Donna Culton, Konstantina Delli, Marcio Diniz‐Freitas, Roni Dodiuk‐Gad, Sophie‐Myriam Dridi, Anne‐Laure Ejeil, Lars French, Krisztian Gaspar, Jon Higham, Barbara Horvarth, Esther Hullah, Sabine Jurge, Roddy McMillan, Helen McParland, Dedee Murrell, Martyn Ormond, Ana Poveda‐Gallego, Mahtab Samimi, Enno Schmidt, Martina Shephard, Tom Sollecito, Jennifer Taylor, Soner Uzun, Skaidra Valiukeviciene, Amanda Willis, Jane Setterfield   +39 more
wiley   +1 more source

Prevalence and molecular genetic features of epidermolysis bullosa in Krasnodar Krai

Кубанский научный медицинский вестник, 2020
Background. Epidermolysis bullosa defi nes a clinically and genetically heterogeneous group of severe orphan disorders manifested with a congenital propensity for bullae (blisters) propagation on skin and mucous membranes of oesophagus, intestine ...
I. I. Pavlyuchenko, L. R. Gusaruk, E. E. Tekutskaya, I. T. Rubtsova   +3 more
doaj   +1 more source

Increased Genetic Instability in Exfoliated Oral Cells in Patients With Epidermolysis Bullosa

Oral Diseases, EarlyView.
ABSTRACT Objective To analyze the nuclear abnormalities of cytotoxicity—karyorrhexis (KR), karyolysis (KL), and pyknosis (PN)—and genotoxicity—micronucleus (MN) in exfoliated cells from different sites of the oral mucosa in patients with Epidermolysis Bullosa (EB) and a control group.
Ana Carolina Sias Franco Franzosi, Rebeca Ferreira Badaró, Lucas Fernandes Leal, Rosalie Matuk Fuentes Torrelio, Willian Grassi Bautz, Leticia Nogueira da Gama‐de‐Souza   +5 more
wiley   +1 more source