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Glossary Epidermolysis Bullosa

genetic disorder causing extremely fragile, blister-prone skin

Epidermolysis Bullosa (EB) is a group of rare genetic disorders that cause the skin to be extremely fragile, leading to blistering and tearing from minor friction or trauma. This condition can range from mild to severe, affecting not only the skin but also mucous membranes and internal organs in some cases.

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research Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility

189 citations , July 2009 in “The Journal of clinical investigation/The journal of clinical investigation”

This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.

research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex

44 citations , January 2017 in “Journal of Investigative Dermatology”

This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.

research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex

40 citations , November 2021 in “International Journal of Molecular Sciences”

This review highlights the role of keratin mutations in epidermolysis bullosa simplex and the resulting chronic inflammation, but it presents no new experimental findings.

research Recently Identified Forms of Epidermolysis Bullosa

39 citations , January 2015 in “Annals of dermatology/Annals of Dermatology”

This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.

research Epidermolysis bullosa in animals: a review

33 citations , October 2014 in “Veterinary Dermatology”

This review discusses the molecular biology, diagnosis, and pathology of epidermolysis bullosa in animals and reports no new clinical findings.

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