Karan Lal, DO: Forms of Dystrophic Epidermolysis Bullosa

During his latest interview with HCPLive, Karan Lal, DO, spoke in greater detail about a subject he has discussed before: the topic of epidermolysis bullosa and the condition’s subtype, dystrophic epidermolysis bullosa (DEB).

Lal is known for his work as the Affiliated Dermatology Scottsdale director of pediatric dermatology and cosmetic surgery and as the social media chair for the Society for Pediatric Dermatology.

“We had an EB clinic that all third year residents had to go through, that was during my third year of residency,” he explained, adding that there were EB simplex, and DEB patients.

Lal noted that there are 2 forms of DEB, which he also explained are recessive dystrophic and dominant dystrophic.

“I think it’s really hard because recessive dystrophic EB, it’s the classic type of EB that people see and think about,” he said. “It’s the ‘butterfly skin disease’...you see people developing skin cancers and dying from an early age from skin cancers.”

Known for being a rare skin disorder, DEB is known as the Butterfly Disease as a result of patients’ skin being extremely fragile and often prone to everyday wounds from small touches. It is the result of mutations in the COL7A1 gene.

“It really is a multi-system disease,” he explained. “And in order to take care of these patients, it’s really hard for someone that’s in primary care to know everything about this condition and treat these patients unless they are working at a center that is an EB center.”

Lal later went on to describe the distinctions between recessive dystrophic and dominant dystrophic EB.

“There’s dominant dystrophic, meaning it’s autosomal dominant,” he said. “So there’s a 50% chance that it is hereditary in future generations. It’s more common than recessive dystrophic EB. Sometimes it can just be really mild, and they can just have nail changes.”

He added that dominant dystrophic EB also can take the form of EB pruriginosa, a condition which can lead to intensely itchy hypertrophic papules, plaques, and nodules which are often found on the body’s lower extremities.

“There’s a lot of different EB genotypes and phenotypes,” he said, explaining that recessive EB is a condition that is particularly challenging for patients as it is multi-system.

Due to the difficulties associated with DEB, treatment options have been explored. B-VEC therapy—designed by modifying a herpes simplex virus type 1 (HSV-1) vector—is 1 of the biggest developments in treatment options for EB patients in general.

In recent phase 3 data on B-VEC therapy, there have been results indicating that around 70% of the wounds of patients showed closure by 6 months compared to 20% treated with placebo. This research may lead to future treatment options for patients with this particularly debilitating condition.

For more information on Lal’s discussion on DEB, view the full interview segment above.