A nonsense variant in the KRT14 gene in a domestic shorthair cat with epidermolysis bullosa simplex. [PDF]
, 2020 Epidermolysis bullosa simplex (EBS) is a hereditary blistering disease affecting the skin and mucous membranes. It has been reported in humans, cattle, buffaloes and dogs, but so far not in cats.
Leuthard, F. +15 more
core +3 more sources
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 +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 +3 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 +6 more
doaj +1 more source
A Site-Specific Plectin Mutation Causes Dominant Epidermolysis Bullosa Simplex Ogna: Two Identical De Novo Mutations [PDF]
, 2002 Plectin is one of the largest and most versatile cytolinker proteins known. In basal keratinocytes it links the intermediate filament network to cell membrane-associated hemidesmosomes.
Olaisen, Bjørnar +8 more
core +1 more source
A Novel Mutation in the Helix Termination Peptide of Keratin 5 Causing Epidermolysis Bullosa Simplex Dowling–Meara [PDF]
, 1997 Epidermolysis bullosa simplex Dowling–Meara (MIM# 1317600) is the most severe of the three common epidermolysis bullosa simplex subtypes. In addition to the palmoplantar distribution seen in other epidermolysis bullosa simplex subtypes, extensive ...
Nevin, Norman C. +4 more
core +1 more source
Epidermolysis bullosa: how social support affects quality of life
, 2018 Measuring quality of life has become an increasingly important method of evaluating the effect of health and social care interventions. The rare genetic condition epidermolysis bullosa is known to have a deep social impact on people’s quality of life ...
Butterworth, Sondra +3 more
core +2 more sources
Epidermolysis Bullosa in Newborn: A Rare Case with Management Dilemmas [PDF]
Journal of Clinical and Diagnostic Research, 2020 Epidermolysis Bullosa (EB) is a rare genetic and connective tissue disorder affecting 1 in every 50000 live birth that causes skin to be very fragile and blister easily.
Ekta Kale, Sumita Mehta, Tarun Kumar
doaj +1 more source
Reproductive alternatives for patients with dystrophic epidermolysis bullosa
Einstein (São Paulo)Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which ...
Denise Maria Christofolini +8 more
doaj +1 more source
Otorhinolaryngological and esophageal manifestations of epidermolysis bullosa
Brazilian Journal of Otorhinolaryngology, 2008 Summary: Epidermolysis bullosa (EB) is a group of skin diseases with different clinical manifestations and varied inheritance patterns. Blisters may appear spontaneously or following minimal trauma to the skin or mucosa.
Rodrigo Santana Fantauzzi +5 more
doaj +1 more source