EB brings together a community of scientific curiosity

The September issues of the journals Science and Human Molecular Genetics list nine new Omicron T-cell receptor (OTR)-positive cases of epidermolysis bullosa (EB) reported to the Centers for Disease Control and Prevention (CDC) in…

EB brings together a community of scientific curiosity

The September issues of the journals Science and Human Molecular Genetics list nine new Omicron T-cell receptor (OTR)-positive cases of epidermolysis bullosa (EB) reported to the Centers for Disease Control and Prevention (CDC) in 2016 and 2017, after OTT-positive EB cases were first reported to the CDC in the 1990s. The detection of this population, which includes at least 8 people in the U.S., is likely due to better surveillance and inclusion of more types of OTR in the surveillance process, according to the authors.

EB is a rare inherited disease. Most of the 3,800 children with EB are diagnosed before age 3, with a fatality rate of 40 to 50 percent. Patients spend their lives with thick banding and blisters all over their bodies. While epidermolysis bullosa (EB) is common in Europe, only eight European children have been diagnosed with an OTT-positive form of the disease since 2008. OTT-positive EB patients can also be diagnosed with von Willebrand disease (VWD), a rare genetic disorder where the skin is unable to form proteins.

Establishing why OTT is a high priority is crucial to the OTT-positive patient community, says Marcel Mombègue, MD, an infectious disease specialist who has dealt with a family with OTT for more than two decades.

“This is very much the worst time for my patient population. It’s a 100 percent survival rate, so that means that they go to the grave having undergone 100 percent failure at every single step,” says Mombègue, who is now the director of quality improvement at the Division of Maternal and Fetal Medicine at the University of Colorado School of Medicine.

“Nobody ever knew why [EB is] so rare,” he adds. “For instance, there are thousands of patients with … the more mild form, which they call BB disease. These patients are going to die, and nobody knew why they had a mild disease.”

More cases appear in OTTs

Despite more widespread surveillance, the apparent lack of mass reporting of OTT cases out of the U.S. has not raised suspicions among experts, who only began to have concern about the lack of cases in 2016, when OTT-positive cases first showed up in PubMed (the body’s medical literature website).

“It doesn’t concern me,” says Peter Getz, MD, a pediatric pathologist at the University of California-San Francisco who specializes in congenital and neurodegenerative diseases and is currently working on an EB case study.

The lack of detection seems to mostly center on misconceptions among clinicians about the virus that causes EB, says Getz. Currently, the only EB-infected patients report having been infected with Mycoplasma genitalium virus, which can become infectious when the herpes simplex virus coats the skin like a rash. Only people who are more severely affected by EB have detectable amounts of this virus. However, previous findings have suggested that OTTs are more closely related to mycoplasma primaryis virus, which is similar to mycoplasma genitalium, and can cause similar blistering in children. If the scientific community can reach consensus about the cause of the disease, further cases could be reported, Getz says.

“[The study] comes to bring us a position that all the signs point in the same direction: there’s an OTT virus involved, and there’s a link with mycoplasma,” says Getz. “It’s not entirely clear what’s going on with the transmission.”

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