14 citations
,
November 2024 in “International Journal of Molecular Sciences” YAP and TAZ proteins control skin cell growth and repair.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
33 citations
,
October 2014 in “Veterinary Dermatology” Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
22 citations
,
March 2023 in “Bioengineering” Stem cell therapies may help improve symptoms and quality of life for people with epidermolysis bullosa.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
15 citations
,
November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
12 citations
,
May 2016 in “British Journal of Dermatology” A 6-year-old boy's skin condition improved after stopping a specific treatment and starting new medications.
9 citations
,
July 2021 in “Dermatology and Therapy” New treatments for epidermolysis bullosa show promise in improving patients' lives, but a cure is still not available.
7 citations
,
November 2020 in “Journal of Tissue Viability” Transplanting a person's own hair can heal chronic wounds in certain skin conditions.
5 citations
,
January 2015 in “Skin appendage disorders” Colored hair-thickening fibers can help hide hair loss in some people with Epidermolysis Bullosa but may cause scalp irritation.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
3 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
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.
1 citations
,
April 2024 in “The Journal of Dermatology” Untreated epidermolysis bullosa acquisita can cause total hair and nail loss.
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.
March 2025 in “Journal of Investigative Dermatology” Cannabinoids may help manage epidermolysis bullosa symptoms, but more research is needed.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
July 2022 in “Dermatology practical & conceptual” Henna ointment may help reduce itching and improve wound healing in patients with epidermolysis bullosa.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
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.
June 2019 in “Pediatric Dermatology” Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
January 2007 in “Bristol Research (University of Bristol)” Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
51 citations
,
January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
2 citations
,
August 2004 in “Veterinary Dermatology” A dog with a hereditary skin condition causing blisters and hair loss survived for a year.