Speaker offers pearls in epidermolysis bullosa therapies

MIAMI BEACH, Fla. — There are currently no FDA-approved treatments for epidermolysis bullosa, leading to a need for a multidisciplinary approach to therapy, according to a speaker here.

“[Epidermolysis bullosa (EB)] has sometimes been described as ‘the worst disease you’ve never heard of,’ and I think this is really apt because this is a rare condition and when kids are diagnosed with severe cases of EB, they are committed to a lifetime of care that can be very painful and can be psychologically traumatizing not just for the child but for the family as well,” Anna L. Bruckner, MD, MSCS, professor of dermatology and pediatrics at the University of Colorado School of Medicine, said during her presentation at the Masters of Pediatric Dermatology meeting.

The group of rare inherited disorders that lead to blistering of the skin and mucous membranes occurs in approximately 20 of every 1 million births, according to Bruckner. The four main types — EB simplex, junctional EB, dystrophic EB and Kindler EB — have varying degrees of severity, prognosis and life expectancy.

More severe types can include comorbidities such as poor growth, anemia and osteoporosis or osteopenia.

“The symptoms of pain and itching are very disabling to patients,” Bruckner said. “The best way to approach the care of patients with EB is to think about a village or a family of specialists who are going to be helping you take care of your patients.”

The main focus of EB therapy is wound care and nutrition. Most blisters will become chronic, open wounds that are very painful. Caring for these blisters and wounds in the most efficient manner, including draining the blisters and using nonadherent dressings, can help to minimize new blister development and accelerate healing.

“The key concept is what comes into contact with the skin should be nonadherent, so most of the products we are using are made with silicone, which has a tackiness but is also hydrophobic,” Bruckner said. “But these dressings unfortunately are expensive.”

A product derived from the bark of the birch tree, oleogel-S10 (Amryt Pharma), is currently approved in Europe and has shown some success in wound healing.

Due to the nature of the disease, patients often have a difficult time getting adequate nutrition, so the inclusion of a nutritionist into the treatment team is necessary.

Increased calories by supplemental formula or calorie dense liquid supplements can help to improve the nutritional intake, and regular lab monitoring should be conducted to establish vitamin levels.

Finally, esophageal dilations and gastrostomy tubes can help improve nutritional intake as well.

“Getting a [gastrostomy tube] is not a failure for these patients. It’s actually really helpful for getting these children the nutrition they need and providing a way for them to take the medications, so they are not having to do everything by mouth,” Bruckner said.