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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 Stabilizing Mutations of KLHL24 Ubiquitin Ligase Cause Loss of Keratin 14 and Human Skin Fragility

April 2017 in “Journal of Investigative Dermatology”

Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.

research Acrodermatitis Enteropathica – Diagnostic Challenges

February 2023 in “Research Square (Research Square)”

Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.

research Evaluation of Clinical and Oral Findings in Patients With Epidermolysis Bullosa

1 citations , June 2023 in “Medicina”

People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.

research Proceedings of the Inaugural Pediatric Dermatology Research Alliance Conference

October 2014 in “The journal of investigative dermatology/Journal of investigative dermatology”

The conference concluded with plans for joint research into children's skin conditions and emphasized the importance of collaboration and patient-focused research.

research Hair Follicle Stem Cell Progeny Heal Blisters While Pausing Skin Development

10 citations , June 2021 in “EMBO reports”

When skin blisters, healing the wound is more important than growing hair, and certain stem cells mainly fix the blisters without helping hair growth.

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