Epidermolysis Bullosa News and Research

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Rare Diseases Action Plan for England focuses on providing better care and reducing health inequalities

A new Rare Diseases Action Plan for England will be published today (Tuesday 28 February) that will ensure those living with these conditions receive better care and treatment, fairer access to testing and have continued support.

28 Feb 2023

New AI systems offers quicker, more accurate diagnosis for blistering disease

Scientists at the University of Groningen have trained an Artificial Intelligence system to recognize a specific pattern in skin biopsies of patients with the blistering disease epidermolysis bullosa acquisita.

8 Jul 2021

Hair follicle stem cells play an outsize role in healing skin blisters

A team of scientists has shown that the healing of skin blisters is driven by hair follicle stem cells, which delay their own development in the process.

14 Jun 2021

Skin may help to predict future heart problems

Our skin tells us when we've spent too much time in the sun or when the dry air of winter has sucked away too much moisture. Now Jefferson researchers find that the skin can also foretell issues unrelated to the protective barrier.

10 Dec 2020

Study: Cannabidiol molecule contains more potent antioxidants

Nowadays, cannabidiol is a star component, not only in the world of cosmetics, but also in pharmaceutics and nutrition due to its antioxidant properties and its therapeutical potential.

17 Nov 2020

New mouth spray could help treat patients with rare genetic skin condition

A new spray for treating severely painful blisters, mouth ulceration and oral scarring in patients with a rare genetic skin condition is being developed by researchers at the University of Birmingham.

29 Oct 2020

Researcher describes a new approach to study the process of wound healing

Our bodies frequently heal wounds, like a cut or a scrape, on their own. However patients with diabetes, vascular disease, and skin disorders, sometimes have difficulty healing.

16 Sep 2020

New project launched to find novel treatments for rare genetic diseases

The University Carlos III Madrid, Almirall, S.A. and the MEDINA Foundation have launched a project to find new treatments for recessive dystrophic epidermolysis bullosa and other genetic diseases caused by nonsense mutations.

28 May 2020

Researchers win grants to find innovative treatments for debilitating skin diseases

National leaders in research to cure debilitating skin diseases based at the Gates Center for Regenerative Medicine on the University of Colorado Anschutz Medical Campus have won a second NIH grant to further investigations of innovative treatments.

26 Nov 2019

Targeting molecular mechanisms could be beneficial in diabetic wound care

When our skin is damaged, a whole set of biological processes springs into action to heal the wound. Now, researchers from the VIB-UGent Center for Inflammation Research have shown that one of the molecules involved in this, HMGB1, slows down wound healing.

26 Nov 2019

AAD honors dermatologist for her role in treating a patient with rare skin disease

The American Academy of Dermatology has honored board-certified dermatologist Karen Wiss, MD, FAAD, as a Patient Care Hero for her role in treating a patient born with an extremely rare skin disease caused by a genetic mutation.

19 Sep 2019

Study demonstrates viability of gene editing strategy for recessive dystrophic epidermolysis bullosa

A group of researchers from the Centro de Investigación Biomédica en Red de Enfermedades Raras, Universidad Carlos III de Madrid, the Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas, and the Instituto de Investigación Sanitaria Fundación Jiménez Díaz have led a study which demonstrates the viability of a gene editing strategy for recessive dystrophic epidermolysis bullosa (also known as butterfly chilidren) with the tool CRISPR/Cas9 in preclinical models with this disease.

8 Apr 2019

Researchers identify common genetic signature among three rare skin diseases

A group of researchers lead by a lecturer from the Universidad Carlos III de Madrid, Marcela del Río, from the CIEMAT, the Rare Diseases Networking Biomedical Research Centre and Fundación Jiménez Díaz has identified a common genetic signature among three rare skin diseases or genodermatoses: recessive dystrophic epidermolysis bullosa, Kindler syndrome and xeroderma pigmentosum.

5 Mar 2019

New study pinpoints how fibrosis develops in butterfly syndrome patients

Children with a grave skin disorder known as butterfly syndrome develop severe and chronic blisters. Fibrosis, the thickening and scarring of connective tissues, is a major complication of the disease.

7 Feb 2019

Immune-related enzymes cause aggressive skin cancer in patients with Butterfly Syndrome

Patients with a rare skin disease, commonly called Butterfly Syndrome, that causes chronic blistering and extensive scarring also develop an aggressive and fatal form of cancer early in life.

28 Aug 2018

Researchers use Tecan Spark multimode reader to investigate epidermolysis bullosa

Researchers at the University Hospital of Salzburg's EB House Austria are using a Tecan Spark multimode reader to investigate epidermolysis bullosa, a rare inherited disease that causes the skin to become ‘as fragile as a butterfly’s wings’, blistering in response to friction or trauma.

From Tecan 4 Jul 2018

CU Anschutz scientists receive $3.8 million DoD grant to boost EB research

Scientists from the Gates Center for Regenerative Medicine at the University of Colorado School of Medicine are part of a consortium awarded $3.8 million from the U.S. Department of Defense to move discoveries in stem cell-created skin grafts into the manufacturing stage, bringing further hope to victims of debilitating inherited skin diseases.

12 Apr 2018

New discovery could accelerate clinical translation of stem cell-based therapies

A team of scientists from the University of Colorado School of Medicine and the Charles C. Gates Center for Regenerative Medicine at CU Anschutz has reported a more efficient approach to reprogramming a patient's diseased skin cells into stem cells, raising hopes for future clinical trials and potential cures for critical illnesses.

23 Feb 2018

Complete new skin from transgenic stem cells for boy with rare genetic disease

Hassan, a then seven-year-old boy from Germany, in 2015, presented to the doctors with a rare skin disease called junctional epidermolysis bullosa or JEB. This condition leaves the skin thin and papery and easily breakable. It has been compared to “butterfly wings” because of their fragile nature.

8 Nov 2017

Researchers reveal how butterfly disease patients develop cutaneous squamous cell carcinomas

Fragile skin that blisters easily: 90 percent of the patients that suffer from the skin condition recessive dystrophic epidermolysis bullosa (RDEB) develop rapidly progressing cutaneous squamous cell carcinomas, a type of skin cancer, by the age of 55. 80 percent of these patients will die due to metastasis within five years after the cancer has been first detected.

11 Mar 2016