Among a group of people with junctional epidermolysis bullosa (JEB), nearly all genetic mutations associated with the condition were unique, which may explain the wide range of symptom presentation and severity among patients, a study reported. Researchers noted that accurately predicting outcomes is challenging because some cases were…
Researchers have highlighted the challenges of treating two cases of aggressive squamous cell carcinoma (SCC), a form of skin cancer associated with recessive dystrophic epidermolysis bullosa (RDEB), with immunotherapy when surgery was no longer an option. One patient, who had many genetic mutations within cancer cells, responded well to…
Gene therapy applied to stem cells — ones derived from blister fluid collected from people with recessive dystrophic epidermolysis bullosa (RDEB) — successfully generated C7 protein within the skin layers of RDEB model mice. Production of C7, which is lacking in RDEB, worked best when modified cells were applied…
Squamous cell carcinoma (SCC), a form of skin cancer, was the most reported cancer among people with epidermolysis bullosa (EB), with a high rate of recurrence and mortality compared with the general population, according to a review of 87 studies. Other skin cancers, including malignant melanoma and basal cell…
Skin-derived stem cells enhanced wound closure in people with recessive dystrophic epidermolysis bullosa (RDEB), according to clinical trial data. The treatment reduced the occurrence of new wounds, extended the time that they recurred, and wounds that did not fully close got smaller. A larger clinical trial using a control…
People with epidermolysis bullosa (EB) have an increased risk of delayed puberty and low bone mineral density (BMD), according to a medical records analysis. Increased incidence of delayed puberty with associated low BMD was notably seen in those with the recessive dystrophic epidermolysis bullosa (DEB) subtype. Predictors of…
Genetic defects underlying junctional epidermolysis bullosa (JEB) can also cause kidney-urinary tract symptoms, a case series reports. Researchers recommend that people with JEB and attending physicians be made aware of this risk and individualize diagnostic and therapeutic strategies to manage these complications. Multicenter studies are needed to make general…
A 36-year-old woman with epidermolysis bullosa acquisita or EBA — a non-genetic type of epidermolysis bullosa (EB) — was successfully treated with ustekinumab, an approved therapy for Crohn’s disease and other conditions, a case study reported. Although the patient also had Crohn’s, an inflammatory condition of the digestive tract,…
The Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion that recommends the approval in Europe of Filsuvez (Oleogel-S10), a topical gel to treat skin wounds in people with dystrophic epidermolysis bullosa (DEB) or junctional epidermolysis bullosa (JEB), ages 6 months and older.
Plant-based kaempferol — a compound with antioxidant and anti-inflammatory properties — enhanced the production in skin cells of C7, the protein that’s missing in people with dystrophic epidermolysis bullosa (DEB), a study demonstrated. The findings suggest that kaempferol may provide therapeutic benefits to DEB patients. As such, the…
An imbalance both of immune signaling proteins and mediators of the itch response was found in the bloodstream of people with epidermolysis bullosa (EB) — for whom itch is a common and debilitating disease symptom — a study discovered. Given the findings, therapies targeting these proteins may be a…
Amryt Pharma has completed its rolling submission of an application to the U.S. Food and Drug Administration seeking the approval of Filsuvez (Oleogel-S10), a topical gel to heal skin wounds in people with junctional (JEB) and dystrophic epidermolysis bullosa (DEB). The new drug application (NDA) includes a request for priority review, which can…
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