Lindsey Shapiro, PhD,  science writer—

Patients with recessive dystrophic epidermolysis bullosa (RDEB) had distinct blood metabolic profiles compared with healthy people, a study showed. The most significantly altered molecules were amino acids — the building blocks of proteins — most of which were at lower levels in RDEB patients and correlated with disease severity.

Self-reactive antibodies against the stress-induced heat shock protein 70 (Hsp70) were higher in the blood of patients with epidermolysis bullosa acquisita (EBA), a study found. In a corresponding mouse model, the researchers observed the autoantibodies contributed to a worse disease course, likely through the mediation of inflammatory pathways. “This…

INM-755 was found to be safe in five adults with epidermolysis bullosa (EB) who were treated with the investigational cannabinol cream in a Phase 2 trial. The safety data led an independent data monitoring committee to agree that it is safe to enroll adolescents, ages 12–17, in the…

Two new mutations in the COL7A1 gene, one inherited from each parent, were identified as the cause of recessive dystrophic epidermolysis bullosa (DEB) in a 10-year-old boy, a case study reported. Further functional analyses suggested that each mutation had only mild effects — supported by the fact that his…

Researchers have identified three cases of epidermolysis bullosa acquisita (EBA) in children, which they described in a recent case series. All three children showed clinical features of the disease, including blisters, scarring, and small cysts on the skin, called milia, and a diagnosis was confirmed with…

A gene-edited skin cell therapy — called Spray-On Skin cells — promotes skin healing by correcting the mutation associated with recessive dystrophic epidermolysis bullosa (DEB), preclinical research from Avita Medical shows. “These data, while early, demonstrate promise … for treatment of epidermolysis bullosa with gene-corrected skin cells,” Mike Perry,…