Results 21 to 30 of about 8,842 (142)

Dystrophic epidermolysis bullosa: genotype-phenotype correlations [PDF]

Vestnik Dermatologii i Venerologii, 2023
Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene. The disease characterized by clinical heterogeneity. To date, scientific findings allow to evaluate correlations between the severity of clinical manifestations and genetic ...
Alexey A. Kubanov, Vadim V. Chikin, Arfenya E. karamova   +2 more
doaj   +1 more source

The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers

Orphanet Journal of Rare Diseases, 2020
Background Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes.
Anna L. Bruckner, Michael Losow, Jayson Wisk, Nita Patel, Allen Reha, Hjalmar Lagast, Jamie Gault, Jayne Gershkowitz, Brett Kopelan, Michael Hund, Dedee F. Murrell   +10 more
doaj   +1 more source

Stomatological management and implant‐supported rehabilitation in a patient with recessive dystrophic epidermolysis bullosa

Clinical Case Reports, 2022
Inherited epidermolysis bullosa (EB) is a disease that causes epithelium fragility due to a protein anomaly caused by a genetic mutation. Epidermolysis bullosa clinical manifestations are bullae and cutaneous‐mucosal erosions.
Pierre Mestrallet, Adnane Wardani, Laurence Evrard   +2 more
doaj   +1 more source

Topical treatment of inherited epidermolysis bullosa [PDF]

Vestnik Dermatologii i Venerologii, 2021
Inherited epidermolysis bullosa is a group of genetic skin disorders characterized by skin erosions, ulceration, skin and mucosal blistering requiring topical treatment.
Alexey A. Kubanov, Vadim V. Chikin, Arfenya E. Karamova, Ekaterina S. Monchakovskaya   +3 more
doaj   +1 more source

Junctional Epidermolysis Bullosa Associated Laryngeal Stenosis: A Case Report and Review of Literature [PDF]

Iranian Journal of Otorhinolaryngology
Introduction:Introduction: Junctional Epidermolysis Bullosa (JEB) is a rare subtype of the Epidermolysis Bullosa which itself is a rare genetic disorder. While mucosal involvement of pharynx and oesophagus has been reported, laryngeal involvement is rare.
Firyal Balushi, Ziyad Al Harrasi, Maathir Al Farsi, Marwa Al Qurani   +3 more
doaj   +1 more source

Full-thickness Skin Grafts for Hand Contractures in an Adult Patient with Junctional Epidermolysis Bullosa: A Case Report

Journal of Plastic and Reconstructive Surgery, 2023
Epidermolysis bullosa is a group of inherited skin fragility disorders with blister formation in the basement membrane zone. Chronic scarring after repeated blistering of the hands causes narrowing of the first web, flexion contractures of the digits ...
Sayaka Nakamura, Susumu Saito, Yoshihiro Ishida, Yo Kaku, Ken Natsuga, Naoki Morimoto   +5 more
doaj  

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

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

Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex

Orphanet Journal of Rare Diseases, 2017
Background A localized form of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and soles. However, these lesions can be very painful.
Jennifer Brun, Christine Chiaverini, Caroline Devos, Stéphanie Leclerc-Mercier, Juliette Mazereeuw, Emmanuelle Bourrat, Annabel Maruani, Stéphanie Mallet, Claire Abasq, Alice Phan, Pierre Vabres, Ludovic Martin, Christine Bodemer, Sylvie Lagrange, Jean-Philippe Lacour, the Research Group of the French Society of Pediatric Dermatology   +15 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