Prevalence, pathophysiology and management of itch in epidermolysis bullosa
M Papanikolaou, A Onoufriadis… - British Journal of …, 2021 - academic.oup.com
Epidermolysis bullosa (EB) is a highly diverse group of inherited skin disorders, resulting
from mutations in genes encoding proteins of the dermoepidermal junction. Itch (pruritus) is …
from mutations in genes encoding proteins of the dermoepidermal junction. Itch (pruritus) is …
[HTML][HTML] A review of acquired autoimmune blistering diseases in inherited epidermolysis bullosa: implications for the future of gene therapy
Gene therapy serves as a promising therapy in the pipeline for treatment of epidermolysis
bullosa (EB). However, with great promise, the risk of autoimmunity must be considered …
bullosa (EB). However, with great promise, the risk of autoimmunity must be considered …
A comprehensive next‐generation sequencing assay for the diagnosis of epidermolysis bullosa
AW Lucky, N Dagaonkar, K Lammers… - Pediatric …, 2018 - Wiley Online Library
Background Historically, diagnosis of epidermolysis bullosa has required skin biopsies for
electron microscopy, direct immunofluorescence to determine which gene (s) to choose for …
electron microscopy, direct immunofluorescence to determine which gene (s) to choose for …
Junctional Epidermolysis Bullosa Linked to Homozygous Mutation in LAMC2 Gene: A Case Report With Eosinophil-Rich Inflammatory Infiltrate
Ş Haskoloğlu, G Öztürk, ND Demirbaş… - The American Journal …, 2024 - journals.lww.com
Junctional epidermolysis bullosa (JEB) is a rare, incurable, devastating, and mostly fatal
congenital genetic disorder characterized by painful blistering of the skin and mucous …
congenital genetic disorder characterized by painful blistering of the skin and mucous …
A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa
Z Li, L Wang, S Wang - Pediatric Dermatology, 2023 - Wiley Online Library
Mutations in ITGB4 are known to cause autosomal recessive junctional epidermolysis
bullosa (JEB), which is manifested by severe blistering and granulation tissue, usually …
bullosa (JEB), which is manifested by severe blistering and granulation tissue, usually …
Clinical and immunological characteristics of food allergy in different forms of inherited epidermolysis bullosa
AA Galimova, SG Makarova… - Russian Journal of …, 2023 - journals.rcsi.science
BACKGROUND: Inherited epidermolysis bullosa is a severe orphan hereditary disease with
a predominant lesion of the skin and mucous membranes. The study of the comorbid …
a predominant lesion of the skin and mucous membranes. The study of the comorbid …
[PDF][PDF] Tetraspanin CD151's role in the kidney and mapping of genetic modifiers of glomerular disease
C Naudin - 2015 - nova.newcastle.edu.au
In many glomerulopathies, there is ongoing debate as to the level of contribution of defects
in the various compartments of the glomerular filtration barrier [9, 11, 13, 150-154]. It is now …
in the various compartments of the glomerular filtration barrier [9, 11, 13, 150-154]. It is now …