Andrea Lobo, PhD, science writer —

Three types of molecules were found to support the production of collagen VII (C7) in patient-derived cell models of recessive dystrophic epidermolysis bullosa (RDEB), according to a recent study. These compounds acted in RDEB caused by premature termination codon (PTC) mutations that produce a shorter, non-functional version of C7,…

Treatment with Janus kinase (JAK) inhibitors — medications such as upadacitinib and baricitinib — was seen to work better than dupilumab at easing itching and skin lesions in people with epidermolysis bullosa pruriginosa (EBP) in a small real-world study. Specifically, among five patients with known itch scores receiving dupilumab,…

About three-quarters of people with epidermolysis bullosa acquisita (EBA) treated with rituximab experienced disease remission, according to a review study. Almost all patients responded to treatment. Overall, nearly 40% of rituximab-treated patients experienced relapses — when symptoms return after a period of improvement — over almost two…

Keratinocytes, a type of skin cell, were able to restore type VII collagen (COL7) levels and improve skin integrity when injected into the skin of a mouse model of recessive dystrophic epidermolysis bullosa (RDEB). The primary cell type found in the outermost layer of the skin (epidermis), the keratinocytes…

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…

A man with severe, treatment-resistant epidermolysis bullosa acquisita (EBA) experienced sustained clinical remission for at least five years after rituximab therapy. Rituximab (sold in the U.S. as Rituxan and biosimilars) is an antibody that suppresses immune system activity by targeting immune B-cells — responsible for making antibodies, including…

Rigosertib may hold promise for recessive dystrophic epidermolysis bullosa (RDEB) associated with advanced squamous cell carcinoma (SCC), with two patients achieving complete treatment responses in the skin, according to initial clinical trial data. The findings were presented at the European Academy of Dermatology and Venereology (EADV) annual congress,…

A new mutation in the ITGA6 gene, called “a novel lethal variant” by researchers, was identified as the cause of junctional epidermolysis bullosa (JEB) that led to the death of a fetus at 32 weeks of pregnancy, according to a case reported in Saudi Arabia. This was the third…

Lesions in the skin and mucosa in a 20-year-old woman with epidermolysis bullosa acquisita (EBA) came back years later, after a COVID-19 vaccination, according to a case report. While rapid development of skin disease after receiving vaccinations had been reported, this is the first case of possible EBA with autoantibodies…

LifeArc and DEBRA Austria have launched a £2.5 million (around $3.3 million) funding call for projects that seek to repurpose therapies for epidermolysis bullosa (EB). Treatment repurposing consists of identifying new therapeutic use for approved medicines. It is an alternative approach to the traditional process of developing…

The U.S. Food and Drug Administration (FDA) has approved a clinical trial in healthy volunteers of ZKN-013, a treatment candidate for recessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa (JEB). Developed by Eloxx Pharmaceuticals, ZKN-013 is an oral therapy that can overcome nonsense mutations, a…

The 6th annual Plunge for Elodie is set to raise more than $2 million for epidermolysis bullosa (EB) research, EB Research Partnership (EBRP) has announced. The event, taking place from March 25 to April 2, invites supporters to plunge into freezing waters at one of the official…