Steve Bryson, PhD, science writer —

An altered modification of proteins involved in controlling gene activity, called histones, may contribute to how severe the buildup of excessive scar tissue is in recessive dystrophic epidermolysis bullosa (RDEB), a study suggests. Blocking abnormal histone modification with the approved medicine valproic acid reduced the signs of scarring, or…

Daclatasvir, an approved antiviral medicine, safely reduced the signs and symptoms of recessive dystrophic epidermolysis bullosa (RDEB) in a mouse model, a drug repurposing study revealed. Data showed that the antiviral, a treatment for the hepatitis C virus (HCV) sold under the brand name Daklinza, extended RDEB mouse survival…

The enzyme polo-like kinase 1 (PLK1) may be a potential therapeutic target for squamous cell carcinoma (SCC) associated with recessive dystrophic epidermolysis bullosa (RDEB), according to an analysis of tumor tissue from an RDEB patient with recurring cancer. The gene that encodes PLK1 was almost seven times more active…

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.