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GlossaryEpidermolysis 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”

Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.

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

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

Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.

research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex

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

Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.

research Recently Identified Forms of Epidermolysis Bullosa

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

Three new types of a skin blistering disease were found, caused by specific gene mutations.

research Epidermolysis Bullosa in Animals: A Review

33 citations , October 2014 in “Veterinary Dermatology”

Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.

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