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GlossaryEpidermolysis Bullosa Simplex

genetic disorder causing fragile skin that blisters easily

Epidermolysis Bullosa Simplex (EBS) is a genetic skin disorder characterized by fragile skin that easily blisters, especially in response to minor injuries or friction. This condition occurs due to mutations in genes responsible for producing keratin proteins, which are essential for skin integrity.

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research Loose Anagen Hair Syndrome in Two Patients with Epidermolysis Bullosa Simplex, Dowling-Meara Type

2 citations , August 2012 in “Journal of the American Academy of Dermatology”

Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.

research Skin, Genetic Defects, and Aging

January 2016 in “SpringerBriefs in bioengineering”

Genetic defects and UV radiation cause skin damage and aging.

research Visualization of Sweat Suppression Following Botulinum Toxin A by Soluble Microneedle Arrays

April 2016 in “Journal of Investigative Dermatology”

Microneedle arrays deliver botulinum toxin effectively for sweat suppression, similar to injections.

research Pathological Modeling of Epidermolysis Bullosa Simplex Using Induced Pluripotent Stem Cells

September 2019 in “Journal of Investigative Dermatology”

Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.

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.

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