News

Proteins involved in activating genes may contribute to RDEB fibrosis

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…

Mix of treatments may aid survival in RDEB patients with skin cancer

Additional treatments following surgery for squamous cell carcinoma (SCC), a type of skin cancer, may prolong survival in people with recessive dystrophic epidermolysis bullosa (RDEB), according to a review study. “However, it is difficult to attribute extended survival to any single treatment, as multiple therapeutic modalities are often used…

Certain COL7A1 mutations linked to more severe RDEB in study

Researchers have developed a framework for categorizing the severity of mutations in the COL7A1 gene that cause recessive dystrophic epidermolysis bullosa (RDEB) which could eventually be used to better inform clinical care. Patients categorized as having so-called “high-impact” mutations in a recent study were found to be at an…

Dupilumab may help ease itch for people with different EB types

Dupilumab, an injection therapy approved for certain inflammatory disorders, may be an effective option to help ease itch and reduce blistering in people with different subtypes of epidermolysis bullosa (EB). That’s according to a study, “Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa,”…

Approved antiviral medicine shows promise in RDEB mouse model

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…