Results 41 to 50 of about 36,363 (277)

Az epidermolysis bullosa szájüregi tünetei és annak ellátása [PDF]

, 2017
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.
Antal, Márk Ádám, Barna Balázs Károly, Iván G, Nagyné Eördegh, Gabriella, Piffkó, József, Silló, Pálma   +5 more
core   +3 more sources

Epidermolysa bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene [PDF]

, 2015
BACKGROUND Heritable forms of epidermolysis bullosa (EB) constitute a heterogeneous group of skin disorders of genetic aetiology that are characterised by skin and mucous membrane blistering and ulceration in response to even minor trauma.
A Capt, A McKenna, A Menoud, A Nakano, A Untergrasser, AP Foster, B Hartwig, BJ Bart, C Baldeschi, C Has, C Mühle, CA Ford, Cord Drögemüller, D Castiglia, D Milenkovic, DF Butler, F Spirito, FB Hadley, FB Hutt, GX Medeiros, H Bassett, H Li, H Schneider, H Stocker, H Thorvaldsdóttir, HW Leipold, I Yeruhama, JD Fine, JD Fine, JS Agerholm, JS Agerholm, Jørgen S Agerholm, KG Thompson, KT Graves, L Bruckner-Tuderman, L Murgiano, L Murgiano, L Murgiano, L Pulkkinen, LD Lieto, Leonardo Murgiano, Louise K Isling, LR Intong, M Aumailley, M Ostmeier, MH Kanzler, MO Benoit-Biancamano, MU Jayasekara, Natalie Wiedemar, OC Straub, P Cingolani, P Deprez, PE Ginn, R Varki, S Dyrendahl, S Mömke, S1 Purcell, T Rausch, Vidhya Jagannathan   +58 more
core   +5 more sources

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

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients. [PDF]

, 2019
BACKGROUND: Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, a protein involved in integrin signalling ...
Castiglia, Daniele, Conti, Claudio J., Del Rio, Marcela, Escamez, Maria Jose, Guerrero-Aspizua, Sara, Has, Cristina, Itin, Peter, Martin, Ludovic, Requena, Luis, Tadini, Gianluca, Uitto, Jouni, Vahidnezhad, Hassan, Yordanova, Ivelina, Youssefian, Leila, Zambruno, Giovanna   +14 more
core   +3 more sources

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

Epidermolysis bullosa simplex with mottled pigmentation: a family report and review [PDF]

, 2013
Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members.
Colmenero, Isabel, Echeverría García, Begoña, Escámez Toledano, María José, González Enseñat, María A., Hernández, Ángela, Mascaró, José M., Río Nechaevsky, Marcela del, Terrón, Ana, Torrelo Fernández, Antonio, Vicente, Asunción   +9 more
core   +3 more sources

Epidemiology of epidermolysis bullosa in the antipodes: The Australasian epidermolysis bullosa registry with a focus on Herlitz junctional epidermolysis bullosa [PDF]

, 2010
To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. Design: Observational study (cross-sectional and longitudinal).
Hogan, Peter, Kho, Yong Chern, Murrell, Dedee F., Orchard, David, Rhodes, Lesley M., Robertson, Ian, Robertson, Susan J., Su, John, Varigos, George   +8 more
core   +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

Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

Journal of the European Academy of Dermatology and Venereology, 2020
Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. Several epidemiological studies in other populations have been carried out,
R. Baardman, V. Yenamandra, ‡. J. Duipmans, A. Pasmooij, M. Jonkman, P. C. Akker, M. Bolling, John Wiley, S. Ltd   +8 more
semanticscholar   +1 more source

Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation [PDF]

, 2004
Plectin is one of the largest and most versatile cytolinker proteins known. Cloned and sequenced in 1991, it was later shown to have nonsense mutations in recessive epidermolysis bullosa with muscular dystrophy.
De Groot, WP, De Weerdt, CJ, Gedde-Dahl, T, Hoyheim, B, Jonkman, MF, Koss-Harnes, D, Nikolic, B, Wiche, G   +7 more
core   +1 more source