Author Archives: Marta Figueiredo PhD

debra Providing School Resources to Help EB Students in Class

With the new school year launching, the Dystrophic Epidermolysis Bullosa Research Association of America — better known as debra of America — is aiming to facilitate conversation and collaboration between families of children with epidermolysis bullosa (EB) and their teachers and classmates. To that end, debra is providing…

In Rare Case, DEB Linked to Newborn’s Toe Deformities

Dominant dystrophic epidermolysis bullosa (DEB) may lead to congenital deformities such as disproportionately short great (big) toes, according to a case report. In this rare case, the newborn also lacked skin in the lower part of both legs (a more common symptom of DEB), and with appropriate treatment his wounds…

Eloxx Plans to Advance ZKN-013 as Oral Treatment for RDEB and JEB

Eloxx Pharmaceuticals announced ZKN-013 as its lead oral treatment candidate for recessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa (JEB) caused by nonsense mutations in the COL7A1 gene. Preclinical safety and toxicology studies, required to secure U.S. Food and Drug Administration (FDA) approval for clinical trials of ZKN-013, are…

Skin Thickening on Feet of EBS Patients Linked to Pain, Obesity

Excessive thickening of the skin on the soles of the feet (plantar keratoderma) is a common and serious complication of all subtypes of epidermolysis bullosa simplex (EBS), a study from Germany reports. This complication, appearing in early childhood, was significantly associated with pain, obesity, and limited mobility, negatively affecting employment…

Exon Skipping Therapies May Be Effective for Some Mutations

Using exon skipping therapies may be an easy, affordable, and effective approach for people with epidermolysis bullosa (EB) with amenable mutations, an early study suggests. Such therapies would promote the production of a slightly shorter, but working version of the skin-related protein that is missing in people with EB, researchers said.