Atlantic Canadian collaboration: Memorial MD student publishes rare skin disease research
In 2017, Cynthia McNeil began noticing random rashes on her arms.
Concerned, she made an appointment with her family doctor in Fort McMurray, Alta., who sent her off for tests.
Her bloodwork showed chronically high white blood cell counts, so she was referred to a hematologist for more tests.
“I can’t tell you how many months it went on, but at one point they diagnosed me with lupus,” she said. “Then they came back and said, ‘It’s not lupus, it’s lymphoma,’ and then came back and said, ‘No, it’s not lymphoma.’ All this time it was still just a rash on my arms, but the cream they gave me seemed to help.”
Significant change
By 2023, Mrs. McNeil, who had recently moved back to her home province of New Brunswick, noticed a significant change.
The rash returned, but this time on her legs. She says it was “the craziest looking rash you’ve ever seen in your life.”
“I wouldn’t even call it a rash. It was basically black holes in my legs.”
Once again, Mrs. McNeil was diagnosed with lymphoma, this time by a New Brunswick hematologist. She underwent multiple rounds of chemotherapy, losing her hair and taking a medical leave from her new job. She was also scheduled for a bone marrow transplant.
“That team got my bloodwork and they said, ‘It’s not lymphoma; we need to put a hold on this,’” she said. “That led to more months of waiting for test results and expert opinions. Finally, I got a call and they said, ‘It is lymphoma and we’re going to continue with the treatments.’ My hair had just started to grow back.”
Rare blood disorder
Days before the rescheduled high-risk bone marrow transplant was to proceed, Mrs. McNeil received a call from Dr. , a Halifax-based hematologist and professor of medicine at Dalhousie University.
A specialist in rare inflammatory diseases, he directs the , which supports physicians and patients coast to coast in identifying and treating rare diseases.
“It was the craziest conversation I’ve ever had in my life,” said Mrs. McNeil. “He said I don’t have cancer. I’ve never had cancer.”
Dr. Chen determined Mrs. McNeil had lymphocytic variant hypereosinophilic syndrome, or L-HES.
The rare blood disorder sees abnormal immune cells create high eosinophil levels that migrate to the skin and lymph nodes and can cause inflammatory symptoms.
It closely resembles lymphoma but requires completely different treatment.
“I have this other disease which I now manage with oral medication twice a day,” she said. “Dr. Chen is phenomenal. Who knows what would have happened had I gone the other route and gotten a transplant.”
Educational value
Mrs. McNeil was the first person in Atlantic Canada to be diagnosed with L-HES.
Recognizing the educational value of the case, Dr. Chen brought the opportunity to Taylor Skinner, a third-year medical student at Memorial University, who was seeking a dermatology-related research project.
She worked with Dalhousie hematopathology resident Dr. Christopher Liwiski to combine clinical insight, laboratory analysis and diagnostic expertise into an article. JAMA Dermatology, one of the world’s leading dermatology journals, the result as a clinical challenge case.
“We have bright young people and if you give them the chance to show what they can do, they’ll do it.”
Teaching cases are designed to help physicians recognize unusual presentations and improve diagnostic accuracy. But even at that level of academic medicine, the team faced pushback, with the paper initially being rejected.
“One of the reviewers said, ‘I have no idea what L-HES is. I think the patient has lymphoma,’” Dr. Chen explained. “Our main message was, this is a rare disorder that you can mistake for lymphoma, and if you don’t know to look for L-HES, you won’t find it.
“It’s not often you have a reviewer who actually highlights the point you are trying to make,” he added. “I sent a long email to the editor who sent it to another reviewer who agreed that it was very important to publish.”
‘In our corner’
Ms. Skinner says she was very fortunate to have her first case report published in such a major journal.
She says Dr. Chen was “really in our corner.”
“I think it’s a really great story of collaboration, but it’s also important information to get out there,” the Memorial MD student said. “You don’t know what you don’t know, so you can’t diagnose or treat something if you don’t recognize it. I think this story is the perfect example of that.”
The case also highlights the strength of Atlantic Canadian collaboration: bringing together a patient in New Brunswick, a physician and a resident in Nova Scotia and a medical student in Newfoundland and Labrador to disseminate knowledge to a global audience.
“I firmly believe the biggest strength of Canadian medical schools is the bright young people that we have,” said Dr. Chen. “We don’t have huge endowments or multibillion-dollar research grants, but we have bright young people and if you give them the chance to show what they can do, they’ll do it.”