Results 21 to 30 of about 2,415 (163)

A Drosophila Model of Epidermolysis Bullosa Simplex [PDF]

Journal of Investigative Dermatology, 2015
The blistering skin disorder epidermolysis bullosa simplex (EBS) results from dominant mutations in keratin 5 (K5) or keratin 14 (K14) genes, encoding the intermediate filament (IF) network of basal epidermal keratinocytes. The mechanisms governing keratin network formation and collapse due to EBS mutations remain incompletely understood.
Bohnekamp, Jens, Cryderman, Diane E., Paululat, Achim, Baccam, Gabriel C., Wallrath, Lori L., Magin, Thomas M.   +5 more
openaire   +2 more sources

Epidermolysis Bullosa Simplex

Journal of the Dermatology Nurses' Association, 2022
ABSTRACT Epidermolysis bullosa simplex (EBS) is a rare autosomal dominant, genetic condition where bullous lesions, larger than 0.5 cm, affect an area of the skin that is exposed to mechanical friction or minor trauma. Prevention of the bullous lesions starts with family and patient education, with infants requiring greater care and control ...
Tammy Sadighi, Cheryl Swayne
openaire   +2 more sources

Correlation between nutritional, hematological and infectious characteristics and classification of the type of epidermolysis bullosa of patients assisted at the Dermatology Clinic of the Hospital Universitário de Brasília [PDF]

Anais Brasileiros de Dermatologia, 2015
: Epidermolysis bullosa comprises a group of phenotypically different genodermatosis, hereditary or acquired, characterized by skin fragility and subsequent formation of blisters in response to mechanical trauma, and which may also affect mucous ...
Márcia Carolline dos Santos Sousa, Carmen Dea Ribeiro de Paula, Pedro Luiz Tauil, Izelda Maria Carvalho Costa   +3 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene

Stem Cell Research, 2020
We have generated UQACi001-A, a new induced pluripotent stem cell (iPSC) line derived from skin fibroblasts of a male patient with the generalized severe epidermolysis bullosa simplex phenotype (EBS-gen sev) and carrying the keratin 14 (K14) R125S ...
Mbarka Bchetnia, Laurie Martineau, Véronique Racine, Julie Powell, Catherine McCuaig, Jack Puymirat, Catherine Laprise   +6 more
doaj   +1 more source

Epidermólisis bullosa en España: Estudio observacional de una cohorte de pacientes atendidos en un centro de referencia nacional

Actas Dermo-Sifiliográficas, 2021
Resumen: Antecedentes y objetivo: La epidermólisis bullosa (EB) es un grupo heterogéneo de trastornos hereditarios caracterizado por un aumento de la fragilidad mucocutánea.
R. Maseda Pedrero, L. Quintana Castanedo, I. Pérez Conde, M. Jiménez González, M.J. Escámez Toledano, R. de Lucas Laguna   +5 more
doaj   +1 more source

Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia

Frontiers in Genetics, 2022
Epidermolysis bullosa (EB) is a rare heterogeneous genetic mechanobullous skin disorder that is characterized by increased skin fragility leading to blistering following minor trauma. EB may be inherited as an autosomal dominant or an autosomal recessive
Raghad Alharthi, Raghad Alharthi, Muhannad A. Alnahdi, Muhannad A. Alnahdi, Ahad Alharthi, Seba Almutairi, Seba Almutairi, Sultan Al-Khenaizan, Sultan Al-Khenaizan, Mohammed A. AlBalwi, Mohammed A. AlBalwi, Mohammed A. AlBalwi   +11 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

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

EPIDERMOLYSIS BULLOSA SIMPLEX DOWLING-MEARA - A case report [PDF]

Journal of IMAB, 2008
A case with Epidermolysis bullosa simplex Dowling-Meara is presented. It concerns a 20 days breast-fed girl with severe blistering and erosions on the skin formed at birth after minor mechanical trauma. There are no other affected relatives.
Ivelina Yordanova, Snejina Vassileva, Zdravka Demerjieva, Dimitar Gospodinov, Nikolai Tsankov   +4 more
doaj   +1 more source

Epidermolysis Bullosa—A Kindler Syndrome Case Report and Short Literature Review

Clinics and Practice, 2023
Introduction: Epidermolysis bullosa (EB) represents a group of rare disorders, genetically determined, characterized by skin fragility, blister formation and erosions due to minimal trauma.
Bogdan Ioan Stefanescu, Diana Sabina Radaschin, Geta Mitrea, Lucretia Anghel, Adrian Beznea, Georgiana Bianca Constantin, Alin Laurentiu Tatu   +6 more
doaj   +1 more source