News

A rare case of hair loss associated with PLEC gene mutation and epidermolysis bullosa simplex with muscular dystrophy was reported for the second time in a patient from the Azores. The case report was published in the journal BMC Dermatology. Epidermolysis bullosa (EB) is caused by…

A study from Spain has raised the possibility that the development of dystrophic epidermolysis bullosa (DEB) could be attributable to additional factors besides mutations in the COL7A1 gene. Researchers reached this conclusion after studying three unrelated patients with different forms of DEB who had two identical mutations in the COL7A1 gene.

Krystal Biotech was recently granted a U.S. patent covering its herpes simplex viral vectors and related gene therapy to be used in preventive, palliative (providing relief), or therapeutic treatment for wounds and skin disorders, particularly dystrophic epidermolysis bullosa (EB). Patent No. 9,877,990 was issued by the U.S. Patent Office. The company stated in…

Data from a Phase 2 trial validated a new five-point Investigator’s Global Assessment (IGA) scale for the clinical evaluation of patients with epidermolysis bullosa simplex (EBS), the scale’s developer, Castle Creek Pharmaceuticals (CCP), announced. In September 2017, CCP presented the five-point IGA scale that defines skin symptoms as clear, almost…

Skin colonization by bacteria resistant to Bactroban (mupirocin) is frequent among patients with epidermolysis bullosa (EB), and may be due to home skin care practices, according to researchers at Columbia University. The finding was reported in the study “Wound culture isolated antibiograms and caregiver-reported skin…

The systemic administration of collagen VII protein can reduce bacteria in the skin of mice with epidermolysis bullosa (EB), according to a report published in the journal Proceedings of the National Academy of Sciences. The study, “Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa,” showed that…

Patients with dystrophic epidermolysis bullosa (DEB) show increased pain, but no difference in anxiety or depression, in comparison with healthy people, a study has found. The study, led by researchers at the Dystrophic Epidermolysis Bullosa Research Association Mexico Foundation, is titled “Pain in Patients with Dystrophic Epidermolysis Bullosa:…

Some diseases were long considered incurable, even untreatable. Epidermolysis bullosa (EB) is one of them. But as technology advances, so does therapeutic possibilities. With the advent of gene therapy, EB patients may finally have an effective treatment to look forward to. Abeona Therapeutics is running the most advanced effort…

A case report demonstrates that a novel mutation discovered in the junctional plakoglobin (JUP) gene can lead to lethal congenital epidermolysis bullosa (EB). The report, titled “A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa,” was published in The Journal of Pediatrics. The normal…

Feeding through a tube inserted directly into the stomach, a process known as gastrostomy, is a potentially beneficial strategy for improving nutritional intake in epidermolysis bullosa (EB) patients, a review study suggests. The study, “Effectiveness of Gastrostomy for Improving Nutritional Status and Quality of Life in Patients…

A lack of vitamin D is a potential key factor in epidermolysis bullosa acquisita (EBA), researchers have found. Using mouse models of the disease, they showed that orally administrating calcitriol, vitamin D’s active form, reduced disease severity and improved inflammation by regulating the immune system’s response. The study, “…

Hollywood celebrities Kaley Cuoco, Mandy Moore and Elizabeth Olsen have designed the latest Charity by Design collection by eco-conscious jewelry brand Alex and Ani to benefit the Epidermolysis Bullosa Medical Research Foundation (EBMRF). To support the epidermolysis bullosa (EB) community, Cuoco, Moore and Olsen were each responsible for the design…