9 citations
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August 2024 in “International Journal of Molecular Sciences” Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
4 citations
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August 2024 in “International Journal of Molecular Sciences” EBGS reduces platelet adhesion, potentially helping prevent blood clots.
December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
1 citations
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March 2023 in “European Journal of Human Genetics” The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
189 citations
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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.
15 citations
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April 2016 in “Medicine” SLE patients with Evans syndrome often show blood issues and need careful monitoring and treatment.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
4 citations
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September 2024 in “BMC Oral Health” Children with Epidermolysis Bullosa need better access to specialized dental care.
33 citations
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October 2014 in “Veterinary Dermatology” Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
1 citations
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June 2019 in “Current developments in nutrition” A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
1 citations
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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.
May 2025 in “The Journal of Rheumatology” Trans-esophageal echocardiography is crucial for accurately diagnosing heart issues in lupus patients.
8 citations
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November 1990 in “Archives of Dermatology” A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
12 citations
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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.
3 citations
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January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
15 citations
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November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
1 citations
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April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
22 citations
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March 2023 in “Bioengineering” Stem cell therapies may help improve symptoms and quality of life for people with epidermolysis bullosa.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
26 citations
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September 2001 in “Journal of Investigative Dermatology” BSSP may help skin tumors grow and could be a marker or target for skin cancer treatment.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
September 2020 in “Kocatepe Veterinary Journal” Equine adipose stem cells can become different cell types and are promising for healing injuries.
2 citations
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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.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
4 citations
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October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
3 citations
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September 2022 in “European Journal of Dermatology” Gene sequencing is crucial for diagnosing Junctional epidermolysis bullosa.
35 citations
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March 2010 in “Journal of Dermatological Science” Ebastine may help regrow hair in alopecia areata patients.