Karan Lal, DO: Experience Treating Patients with ‘Butterfly Disease’ Dystrophic Epidermolysis Bullosa

During his recent interview with HCPLive, Karan Lal, DO, MS, spoke about the rare genetic skin disorder known as epidermolysis bullosa (EB), or the “Butterfly Disease.”

Lal functions as Affiliated Dermatology Scottsdale’s director of pediatric dermatology and cosmetic surgery. He also works as the social media chair for the Society for Pediatric Dermatology.

A rare skin disorder, EB is known as the Butterfly Disease due to those with the condition having skin that is often extremely fragile and prone to everyday wounds from small touches.

“There are many different types of EB there's a lot of different genetic mutations that are responsible for EB and EB is essentially a disease where you get blistering,” Lal said. “This is not an autoimmune blistering disease. This is a genetic blistering disease.”

The condition results from mutations in the COL7A1 gene, and Lal described his personal experience helping EB patients through his work at the University of Massachusetts.

“The blistering can occur in the top layer of the skin known as the epidermis, below the epidermis or in the dermis, and so does dystrophic EB,” Lal said. “It’s due to a defect in collagen VII, and collagen VII is part of the dermis and is responsible for the integrity of the skin.”

Lal went more in depth about the skin disorder, describing the different variants of the condition and the difficulties patients face in dealing with them.

“So the bigger the biggest subdivisions of dystrophic EB are dominant dystrophic EB, which is more common and less severe, and then there's recessive dystrophic EB which is kind of the classic ‘butterfly’ skin disease picture that you see. And recessive dystrophic EB is more of a multi-system disease. These patients can get kidney failure, widespread infections, because they have open wounds.”

Lal also added that the recent strides in treatment, in the form of topical gene therapy known as B-VEC, are encouraging to him given his experiences.

“I'm very excited, because we really didn't have much for these patients in terms of therapy,” he said. “I mean, it's very upsetting and depressing to see these patients, you know, every 3 months and get their blood work and talk to them about how to live with their disease…and not really have anything new to offer. It's mostly wound care. So this, to me is a major breakthrough.”

For more information on the condition, view the full interview segment above.