Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity
Diagnostics, 2022 Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by mucocutaneous fragility and blister formation after minor friction or trauma. There are four major epidermolysis bullosa types based on the ultrastructural level of
Monica-Cristina Pânzaru +4 more
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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 +4 more
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MMP-9 and CXCL8/IL-8 are potential therapeutic targets in epidermolysis bullosa simplex.
PLoS ONE, 2013 Epidermolysis bullosa refers to a group of genodermatoses that affects the integrity of epithelial layers, phenotypically resulting in severe skin blistering. Dowling-Meara, the major subtype of epidermolysis bullosa simplex, is inherited in an autosomal
Thomas Lettner +5 more
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Epidermolysis bullosa simplex: A case report
Nigerian Journal of PaediatricsEpidermolysis bullosa (EB) is a rare hereditary cutaneous disorder inherited mainly in an autosomal dominant fashion.1 It consists of a group of conditions that cause the skin to be fragile and blister easily.
Peterside O +4 more
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Seminars in dermatology, 1993 Epidermolysis Bullosa Simplex (EBS) is a genetic disorder usually characterized by an autosomal dominant mode of transmission in which the skin blisters in response to trivial mechanical trauma. There are several clinical variants of EBS, ranging from clinically mild to very severe and even lethal, but in all cases the primary lesion responsible for ...
So JY, Teng J.
europepmc +2 more sources
Expanding the spectrum of epidermolysis bullosa simplex: Syndromic epidermolysis bullosa simplex with nephropathy and epilepsy secondary to CD151 tetraspanin defect—a case report and review of the literature [PDF]
JAAD Case Reports, 2022 Charles Dunn, Rajiv Nathoo
exaly +2 more sources
Epidermolysis Bullosa Simplex-Severe Caused by KRT5 p.Glu477Lys: Challenges Encountered in This High-Risk Subtype. [PDF]
Pediatr DermatolABSTRACT Epidermolysis bullosa simplex‐severe (EBS‐severe) caused by KRT5 p.Glu477Lys is a rare and particularly severe subtype associated with high neonatal morbidity and mortality. We report an infant who during the neonatal period required prolonged multidisciplinary intensive care for the management of several complications, including extensive ...
Zhovta N +15 more
europepmc +2 more sources
Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex [PDF]
International Journal of Molecular Sciences, 2021 Ekaterina Vorotelyak +2 more
exaly +2 more sources
Epidermolysis bullosa simplex clearance after nasopharyngeal carcinoma treatment [PDF]
JAAD Case Reports, 2021 Salim Alkeraye
exaly +2 more sources
Junctional Epidermolysis Bullosa in a 30-day-old Infant: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2023 Epidermolysis bullosa is a group of hereditary mechanobullous disorders which are associated with appearance of bullae secondary to physical stress like heat or mechanical trauma or sometimes without any trigger.
Pratima Bisen +4 more
doaj +1 more source