Results 91 to 100 of about 81,034 (193)

The experiences of young people with epidermolysis bullosa simplex: a qualitative study [PDF]

, 2011
Objective: To explore the experiences of young people with Epidermolysis Bullosa Simplex (EBS).Method: 11 participants aged 10 -14 years were interviewed. Interpretative Phenomenological Analysis was employed.Results: A key theme was ‘self as different’.
Williams, E. Felicity, Gannon, Kenneth, Soon, Kristina   +2 more
core  

Dystrophic Epidermolysis Bullosa

, 2018
Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1.
Shumneva Shrestha, Sanjay Kumar Gupta, Randhir Sagar Yadav, Upama Paudel, Amar Jayswal   +4 more
core   +1 more source

Epidermolysis bullosa simplex: genotype-phenotype correlations

Vestnik Dermatologii i Venerologii
Epidermolysis bullosa simplex (EBS) includes a group of diseases characterized by varying severity, possible damage to visceral organs, and various outcomes ranging from complete regression of the rash to death. The initial clinical manifestations of EBS
Vadim V. Chikin, Arfenia E. Karamova
doaj   +1 more source

Treatment of keratinocytes with 4-phenylbutyrate in epidermolysis bullosa: Lessons for therapies in keratin disordersResearch in context

EBioMedicine, 2019
Background: Missense mutations in keratin 5 and 14 genes cause the severe skin fragility disorder epidermolysis bullosa simplex (EBS) by collapsing of the keratin cytoskeleton into cytoplasmic protein aggregates.
Marina Spörrer, Ania Prochnicki, Regine C. Tölle, Alexander Nyström, Philipp R. Esser, Melanie Homberg, Ioannis Athanasiou, Eleni Zingkou, Achim Schilling, Richard Gerum, Ingo Thievessen, Lilli Winter, Leena Bruckner-Tuderman, Ben Fabry, Thomas M. Magin, Jörn Dengjel, Rolf Schröder, Dimitra Kiritsi   +17 more
doaj   +1 more source

Epidermolysis Bullosa Simplex

, 2013
The EBS subtype can be defined as EBS with blisters within epidermal basal keratinocytes or above, and it is distinguished from other subtypes whose levels of blister formation are deeper (JEB and DEB) or variable (KS). Mutations in several genes have been identified as being responsible for EBS phenotypes.
openaire   +2 more sources

Leukocytoclastic vasculitis in a child with epidermolysis bullosa simplex

The Turkish Journal of Pediatrics, 1999
A 10-year-old boy with epidermolysis bullosa simplex (Weber-Cockayne variant) together with leukocytoclastic vasculitis is presented. He was admitted to the hospital with the provisional diagnoses of infected epidermolysis bullosa simplex or drug ...
G Sezgin, M Ceyhan, G Seçmeer, A Bakkaloğlu, G Kanra, G Büyükkale   +5 more
doaj  

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4)

The Turkish Journal of Pediatrics, 2015
Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal ...
Mehmet Mutlu, Ersan Kalay, Beril Dilber, Yakup Aslan, Embiya Dilber, Nour Almaani, John A Mcgrath   +6 more
doaj  

Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex [PDF]

, 2004
The severe Dowling-Meara form of epidermolysis bullosa simplex is caused by dominant-negative mutations in keratins 5 and 14, which are specifically expressed in the basal keratinocytes of the epidermis. The most common mutation in the Dowling-Meara form
McLean, Irwin, Smith, Frances, Smith, Frances J.D., Morley, Susan, Morley, Susan M., Irwin McLean, W.H.   +5 more
core   +1 more source

Hereditary epidermolysis bullosa: clinical-epidemiological profile of 278 patients at a tertiary hospital in São Paulo, Brazil

Anais Brasileiros de Dermatologia
Background Epidermolysis bullosa (EB) is a group of rare hereditary diseases, characterized by fragility of the skin and mucous membranes. Epidemiological data on EB in Brazil are scarce.
Chan I. Thien, Vanessa Rolim Bessa, Isadora Zago Miotto, Luciana Paula Samorano, Maria Cecília Rivitti-Machado, Zilda Najjar Prado de Oliveira   +5 more
doaj   +1 more source

Nail Dystrophy Treated With Marigold Therapy in a Patient With Epidermolysis Bullosa Simplex

Australasian Journal of Dermatology, Volume 67, Issue 4, Page e255-e256, June 2026.
Aalia Syed, M. Tariq Khan, Dédée F. Murrell   +2 more
wiley   +1 more source