Results 61 to 70 of about 2,415 (163)
Case Reports in Surgery, Volume 2026, Issue 1, 2026.Hereditary epidermolysis bullosa (EB) is a rare group of genetic diseases with structural and functional alterations affecting the epithelium leading to cell detachment with skin and mucosal epithelial damage. Certain EB subtypes are associated with an increased risk of cardiomyopathy.
Antonio Fiore +5 more
wiley +1 more source
, 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
Epidermolysis bullosa simplex with mottled pigmentation
Dermatology Online Journal, 2012 Epidermolysis bullosa is a rare disorder with several variants. Included in this disorder is epidermolysis bullosa with mottled pigmentation (EBS-MP). We report a case of a young child with this rare disorder and explain the genetic cause.
Browning, John C, Mohr, Brooke
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Epidermolysis bullosa simplex: genotype-phenotype correlations
Vestnik Dermatologii i VenerologiiEpidermolysis 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
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 +17 more
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Pioneers in Dermatology and Venereology: An interview with Professor Eli Sprecher
Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 5, Page 732-735, May 2026.
Eli Sprecher
wiley +1 more source
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 +5 more
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Progressive Linear Bullous Eruption in a Young Athlete: A Diagnostic Challenge
Journal of Paediatrics and Child Health, Volume 62, Issue 5, Page 894-896, May 2026.
Chon‐Wai Jeremy Chan +4 more
wiley +1 more source
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 +6 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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