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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 5 free, full-text review articles. First few results:
Topical Diacerein Ointment for Epidermolysis Bullosa Simplex: A Review
Last Updated: Dec 17, 2019

Epidermolysis bullosa (EB) is a group of rare mucocutaneous fragility disorders often presenting in infancy and early childhood with painful blistering of the skin and mucous membranes. The severity of EB blister burden varies by disease subtype. Studies have shown that patients with ...

Keratins and epidermolysis bullosa simplex.
Last Updated: Oct 07, 2019

Keratin intermediate filaments play an important role in maintaining the integrity of the skin structure. Understanding the importance of this subject is possible with the investigation of keratin defects in epidermolysis bullosa simplex (EBS). Nowadays, in addition to clinical criteria, ...

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5 Free Review Articles 18 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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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 114 free, full-text research articles. First few results:
Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation.
Last Updated: May 05, 2020

Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. We provide a brief report of long-term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which ...

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".
Last Updated: May 11, 2020

Epidermolysis bullosa simplex (EBS) is usually inherited as an autosomal dominant disease due to monoallelic gain-of-function mutations in KRT5 or KRT14. Although autosomal recessive forms of EBS have been associated with mutations in at least 10 genes, recessive EBS due to homozygous ...

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114 Free Research Articles 318 Research Articles