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Epidermolysis Bullosa Simplex

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Epidermolysis Bullosa Simplex" returned 4 free, full-text review articles. First few results:
Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.
Last Updated: Nov 18, 2014

Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members. We present six cases from two unrelated Spanish families ...

Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath.
Last Updated: Nov 13, 2018

Epidermolysis bullosa simplex (EBS) is a rare genetic condition typified by superficial bullous lesions following incident frictional trauma to the skin. Most cases of EBS are due to dominantly acting mutations in keratin 14 (K14) or K5, the type I and II intermediate filament (IF) ...

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4 Free Review Articles 16 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Epidermolysis Bullosa Simplex" returned 1 free, full-text editorial articles. First 1 results:
Mutations in epidermolysis bullosa simplex.
Last Updated: Jul 23, 2019

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1 Free Editorials 4 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Epidermolysis Bullosa Simplex" returned 111 free, full-text research articles. First few results:
Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis.
Last Updated: Feb 15, 2019

Epidermolysis bullosa is a group of diseases caused by mutations in skin structural proteins. Availability of genetic sequencing makes identification of causative mutations easier, and genotype-phenotype description and correlation are important. We describe six patients with a keratin ...

Basal pharmacokinetic parameters of topically applied diacerein in pediatric patients with generalized severe epidermolysis bullosa simplex.
Last Updated: Apr 16, 2019

Generalized severe epidermolysis bullosa simplex (EBS-gen sev) is caused by mutations within either the KRT5 or KRT14 gene, phenotypically resulting in blistering and wounding of the skin and mucous membranes after minor mechanical friction. In a clinical phase 2/3 trial, diacerein ...

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111 Free Research Articles 307 Research Articles