Results 51 to 60 of about 21,752 (228)

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

Adjunctive Botulinum Toxin Type A for Bruxism and Sweat‐Worsened Facial Blistering in Recessive Dystrophic Epidermolysis Bullosa: A Case Series

JEADV Clinical Practice, EarlyView.
Capsule Summary Bruxism and sweat‐induced facial blisters can affect patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB) quality of life (QoL). We present the outcomes of orofacial BTX‐A infiltrations to treat these conditions. Three patients with severe RDEB, bruxism and microstomia received BTX‐A infiltrations (50U‐100U) in masseters and ...
Susanne Krämer, Sebastián Véliz, Gina Pennacchiotti, Fernanda Salazar, María‐Beatriz Méndez   +4 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

Junctional epidermolysis bullosa [PDF]

, 2012
“Vlinderkinderen” worden ze genoemd, de patiëntjes met epidermolysis bullosa (EB) met een huid zo teer als de vleugels van een vlinder. Er worden zo’n 25 typen EB onderscheiden, waarvan de oorzaak in één van de 15 betrokken genen kan liggen.
Yuen, Wing Yan,
core   +2 more sources

Inherited epidermolysis bullosa [PDF]

Orphanet Journal of Rare Diseases, 2010
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types and subtypes of EB are rare; the overall incidence and prevalence of the disease within the United States is approximately 19 per one million live
openaire   +3 more sources

Physical Development and Puberty in Related Patients with Kindler Epidermolysis Bullosa: Case Study

Вопросы современной педиатрии, 2022
Background. Kindler epidermolysis bullosa is orphan, autosomal recessive disease and it is one of the variants of congenital epidermolysis bullosa. Its severe course is characterized by high risk of multifactorial malnutrition, chronic inflammation due ...
Maria A. Leonova, Nikolay N. Murashkin, Anton S. Dvornikov, Irina Yu. Pronina   +3 more
doaj   +1 more source

Molecular architecture and function of the hemidesmosome [PDF]

, 2015
Hemidesmosomes are multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane. The mechanical stability of hemidesmosomes relies on multiple interactions of a few protein components that form ...
Gerhard Wiche, Gernot Walko, Maria J. Castañón   +2 more
core   +3 more sources

Bruton tyrosine kinase (Btk) in neutrophils is indispensable for initiating and maintaining skin inflammation in a model of pemphigoid diseases

British Journal of Pharmacology, EarlyView.
Background and Purpose Bruton tyrosine kinase (Btk) is essential for B cell function. Its role in myeloid cells is less understood. Greater insights into Btk significance in myeloid cells are needed to evaluate its potential as a therapeutic target during the effector phase of antibody‐induced autoimmune diseases, where inhibiting autoantibody ...
Henning Olbrich, Paul Schilf, Sripriya Murthy, Sina Gonther, Mareike Neumann, Christoph M. Hammers, Jasper N. Pruessmann, Christian D. Sadik   +7 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

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. [PDF]

, 2017
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by the lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis ...
Atanasova, Velina S., Bruckner-Tuderman, Leena, Chen, Mei, Gruber, Christina, Has, Cristina, Hofbauer, Josefina Piñón, Jiang, Qiujie, McGrath, John A., Prisco, Marco, South, Andrew P., Uitto, Jouni   +10 more
core   +1 more source