Palliative Sedation with Oral Medicines in an Infant with Generalized Severe Junctional Epidermolysis Bullosa.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Palliative Medicine"
DOI: 10.1089/jpm.2018.0054
Abstract: Abstract Generalized severe junctional epidermolysis bullosa is a rare mechanobullous skin disorder that is uniformly fatal. We present the case of an infant who received palliative pain management and ultimately proportionate palliative sedation. However, because… read more here.
Keywords: junctional epidermolysis; generalized severe; severe junctional; sedation ... See more keywords
A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa.
Sign Up to like & getrecommendations! Published in 2023 at "Pediatric dermatology"
DOI: 10.1111/pde.15282
Abstract: Mutations in ITGB4 are known to cause autosomal recessive junctional epidermolysis bullosa (JEB), which is manifested by severe blistering and granulation tissue, usually complicating pyloric atresia and even leading to death. ITGB4-associated autosomal dominant epidermolysis… read more here.
Keywords: itgb4 causing; epidermolysis bullosa; junctional epidermolysis; epidermolysis ... See more keywords
A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Dermatology"
DOI: 10.1684/ejd.2022.4318
Abstract: Junctional epidermolysis bullosa (JEB) is a rare inherited genetic disorder in which pathogenic mutations are mostly located within exons of the associated genes. This report describes a novel variant located at a splice site. To… read more here.
Keywords: novel splice; gene; epidermolysis bullosa; junctional epidermolysis ... See more keywords
ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges
Sign Up to like & getrecommendations! Published in 2022 at "Acta Dermato-Venereologica"
DOI: 10.2340/actadv.v102.935
Abstract: Abstract is missing (Short communication) read more here.
Keywords: itgb4 mutated; epidermolysis bullosa; junctional epidermolysis; bullosa without ... See more keywords
Junctional Epidermolysis Bullosa (Non-Herlitz Type).
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"
DOI: 10.32388/e6ch96
Abstract: Junctional epidermolysis bullosa (JEB) is a recessively inherited skin blistering disease and is caused due to abnormalities in proteins that hold layers of the skin. Herlitz JEB is the severe form and non-Herlitz JEB is… read more here.
Keywords: junctional epidermolysis; non herlitz; herlitz; epidermolysis bullosa ... See more keywords
COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.976604
Abstract: Background Epidermolysis bullosa (EB), a severe genetic disorder characterized by blister formation in skin, is caused by mutations in genes encoding dermal-epidermal junction proteins that function to hold the skin layers together. CRISPR/Cas9-induced homology-directed repair… read more here.
Keywords: epidermolysis; epidermolysis bullosa; junctional epidermolysis; homology directed ... See more keywords