Published January 2016
British Journal of Dermatology

Even as one of the nation’s pediatric experts in epidermolysis bullosa (EB), Anne Lucky, MD, understands the challenges of determining the best treatment options for this rare but potentially deadly condition marked by severe and disfiguring skin blistering.

In the last year, she treated three patients at Cincinnati Children’s, and only one in the 10 years before that. Treatment complexity increases exponentially when EB patients develop squamous cell carcinoma (SCC), a type of skin cancer. Patients with a recessive form of EB have a 7.5 percent cumulative risk of developing at least one SCC by age 20, which ranges from 6.78 percent at 35 to 90.1 percent by 55. The cumulative increased risk of death from both diseases ranges from 38.7 percent at age 35 to 78.7 percent at 55.

Lucky and EB experts from around the world studied 76 research papers or conference abstracts—culled from a total of 300—to develop a best clinical practice guideline for patients who present with both EB and skin cancer. Participating specialists were from the UK, U.S., Australia, Austria, the Netherlands, France, Chile and Mexico. Their collaborative guidelines are available via the DEBRA International resource for EB patients and clinicians.

The new guidelines cover disease surveillance and monitoring, clinical evaluation, tumor evaluation and staging, surgical and non-surgical treatments (including amputation, radiotherapy, chemotherapy, biologics), prosthetics, prevention, pain management and end-of-life care.

“The guidelines are intended to help inform decision making by clinicians dealing with this complex complication of devastating disease,” Lucky says. “The problem is that EB is rare, and developing SCC is even more rare. But this combination has a tremendous impact on patients. These guidelines speak to why we need more good studies.”