Laryngeal stenosis associated with epidermolysis bullosa simplex [PDF]
JAAD Case Reports, 2020 N Bellon, C Chiaverini, L Misery
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Small fiber neuropathy in epidermolysis bullosa simplex [PDF]
JAAD Case ReportsShahab Babakoohi, MD +3 more
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Detrimental Effects of IFN-γ on an Epidermolysis Bullosa Simplex Cell Model and Protection by a Humanized Anti–IFN-γ Monoclonal Antibody [PDF]
JID Innovations, 2022 Epidermolysis bullosa is a group of severe skin blistering disorders, which currently have no cure. The pathology of epidermolysis bullosa is recognized as having an inflammatory component, but the role of inflammation in different epidermolysis bullosa ...
Cedric Badowski +9 more
doaj +2 more sources
Dermatologic Clinics, 2010 The prevalence of epidermolysis bullosa simplex (EBS) is estimated to be approximately 6 to 30 per 1 million live births. The disease is usually caused by missense mutations in KRT5 and KRT14, encoding keratins mostly expressed in the epidermal basal layer.
Eli Sprecher
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Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum [PDF]
PLoS ONE, 2023 The Lamc2jeb junctional epidermolysis bullosa (EB) mouse model has been used to demonstrate that significant genetic modification of EB symptoms is possible, identifying as modifiers Col17a1 and six other quantitative trait loci, several with strong ...
Thomas J. Sproule +9 more
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Management of epidermolysis bullosa simplex in pregnancy: A case report [PDF]
Case Reports in Women's Health, 2019 Epidermolysis bullosa (EB) encompasses a group of diseases characterized by extreme fragility of skin and mucous membranes, resulting in blister formation following minimal injury.
Nidhi Shah +2 more
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Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex [PDF]
Frontiers in Genetics, 2021 Objectives: The aim of this study was to determine the molecular etiology and clinical manifestations of a pair of Chinese twins affected with epidermolysis bullosa simplex.
Xiaojing Xu +9 more
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Journal of Dermatology and Dermatologic Surgery, 2019 Epidermolysis bullosa simplex-Dowling–Meara (EBS-DM) variant is an autosomal dominant blistering genodermatosis due to mutations in genes coding for keratin 5 (K5) or keratin 14 (K14), specifically at the rod domain.
Wei-Liang Koh, Yong-Kwang Tay
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Rare Disease Focused Antenatal Education and Diagnosis Support: Two Case Studies of Epidermolysis Bullosa Simplex [PDF]
Orphanet Journal of Rare DiseasesMany people living with a rare disease (RD) face challenges accessing timely diagnosis and disease-specific specialist care. Early health-care challenges for people living with Epidermolysis Bullosa (EB), a rare genetic disease affecting 1:20,000 ...
Rebecca Saad +2 more
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The clinical spectrum of epidermolysis bullosa simplex
British Journal of Dermatology, 2000 AbstractAs part of the U.K. National Epidermolysis Bullosa Register, we have systematically recorded clinical information on 130 (77%) of the 168 known Scottish epidermolysis bullosa simplex (EBS) sufferers. Three subtypes of EBS were recognized: Dowling–Meara (EBS-DM), Weber–Cockayne (EBS-WC) and Köbner (EBS-Kb), seen in 5%, 42% and 53% of patients ...
H M Horn, M J Tidman
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