Unraveling an oral health mystery leads to rare autoimmune diagnosis

By Anne Blythe

Christine Letsky-Anderson remembers well the day that her medical odyssey began.

It was in the spring of 2023, and the Virginia resident was sipping a Chick-fil-A lemonade one morning. “My mouth burst into blisters everywhere,” Letsky-Anderson told NC Health News in a recent phone interview.

Finding the cause of those painful blisters that erupted into patches of sores sent her from one doctor to another for a year and a half before a dermatologist at UNC Health finally helped her solve the unrelenting mystery.

“Basically I had a bloody open ring that went around the entire perimeter of my mouth,” Letsky-Anderson recalled. “I got sores on the insides of my cheeks, my esophagus, my tongue, on the floor of my mouth, on the roof of my mouth — just exploded in these blisters and ulcers. I couldn’t eat any solid food at all. Even drinking water was painful.”

Letsky-Anderson’s journey is illustrative of a growing refrain in the oral health and broader medical community: the mouth is a window into overall health. Not only because oral conditions can be linked to systemic disease such as heart ailments, diabetes, cancer and, according to growing research, dementia, but also, systemic conditions can manifest in the mouth.

A director of creative services at James Madison University in Harrison, Virginia, Letsky-Anderson had been an active, social person with a wide circle of friends. She liked to hike, climb mountains, be outdoors with her dogs and travel. She led a healthful, mindful lifestyle.

Then, seemingly with no warning, that comfortable existence was pulled out from under her.

Googling for answers

All of a sudden, she was googling phrases like “mouth sores that don’t heal” with the word “autoimmune.” She suspected she might have an autoimmune condition since her father had celiac disease, and a cousin on her father’s side had immune system issues too.

She had just been to the dentist and did not have any problems with her teeth or gums at that time. The blisters weren’t on her gums anyway. Sexually transmitted infections can cause open sores, but she was confident that wasn’t what was going on.

“There were certain things that I knew I didn’t have,” Letsky-Anderson said.

Letsky-Anderson went to her primary care physician first, and he referred her to a rheumatologist. But there was a yearlong wait for her to see a nurse practitioner in the rheumatology practice.

So she was referred to a dermatologist, who could see her sooner.

The first dermatologist she saw “was tossing up things like Lupus, Sjogren’s syndrome — things like that,” Letsky-Anderson said. “She put a possible diagnosis of trench mouth down, and I had been to my dentist. It was not that, and she said, ‘Well, you’re really going to have to wait until you see your rheumatologist because this looks like it’s going to be something rheumatology.’”

When she finally got in to see the rheumatologist — it ended up being about a seven-month wait — she told her it was really the dermatologist she should be seeing. “So I got shuffled back and forth from one to the other,” Letsky-Anderson said. “I can’t eat at all. I mean, I was terrified of what’s happening to my body.”

Along the way, she lost more than 40 pounds.

By January 2024, skin lesions had spread to other parts of her body. That led to referrals to a gastroenterologist, a gynecologist, even a colorectal surgeon. She was given steroids and medication to try to calm the symptoms during the back-and-forth between doctors, but one of the drugs seemed to be exacerbating them.

Eventually, Letsky-Anderson’s rheumatologist referred her to Donna Culton, a dermatologist in the UNC School of Medicine who has a special interest in autoimmune blistering disorders. She draws patients from across North Carolina and neighboring states because of her expertise.

Letsky-Anderson was able to get an appointment within a month and made the trip from Virginia to Chapel Hill last year in late September, the same week the colorectal surgeon had wanted to schedule her for surgery for what at the time was believed to be a fissure related to steroid use. 

Culton discouraged her from moving forward with the surgery. “She was like, ‘Don’t do it. …It could have catastrophic consequences for you,” Letsky-Anderson recalled. Because she had just been started on a new drug, Culton wanted to wait a couple of weeks to see if symptoms improved. If not, she wanted to do a biopsy.

In October, Letsky-Anderson was back in Chapel Hill for a biopsy of the blistering in her mouth. Within 24 hours, she heard the news she had been awaiting for 18 months.

“You have pemphigus,” Culton told her.

When Letsky-Anderson informed the surgeon of the pemphigus diagnosis, he told her it was good they had not taken that step. With other pemphigus patients, she said, it has resulted in fecal incontinence. “That’s a life-changing catastrophe,” she added.

The fight ahead

Pemphigus is a rare autoimmune disease for which there is no cure, but it can be controlled through treatment. The condition is known to come on in women when they are between 40 and 60 years old. It causes a person’s antibodies to attack one of the proteins that holds the skin together and causes blistering and sores on the skin and mucosal areas of the body.

Interestingly enough, pemphigus was a diagnosis Letsky-Anderson settled on herself in her early Google searches. She even told one of the doctors she saw toward the start of her quest for treatment that she thought she might have the condition. But a dermatologist in Virginia did only one of two biopsies necessary to fully diagnose the rare disease, and Letsky-Anderson, who had never had a biopsy before, assumed she had performed both.

“I thought from January 2024 until I got the diagnosis from Dr. Culton in October of 2024 that pemphigus had been ruled out,” Letsky-Anderson said.

Subsequently, many of the doctors she visited also thought pemphigus had been ruled out. Still in the back of her mind she’d wondered about the autoimmune disease until receiving the confirmation from Culton.

“I think I may have said to her, ‘I knew it,’” Letsky-Anderson recalled. “I can’t remember, but you know there’s a moment of like, I was still shocked, even though I thought from the beginning — there’s this vindication, validation that you were right. So I felt like, really, ‘Yeah, we got to the bottom of this.’ “

That comforting feeling quickly subsided to a realization of the fight ahead. “There’s a moment of kind of happiness and joy where you find your answer, but then you realize the consequences of the answer — how much the delay in my diagnosis set me back, it makes it less likely I’ll reach remission easily,” Letsky-Anderson said. “You know there’s just so many things that have been shocking to me to learn that if we had gotten on this sooner.”

Raising awareness

Emma Myers, a third year medical student at UNC Chapel Hill, has spent the past year as an Albert Schweitzer fellow trying to bring more awareness to autoimmune diseases and the difficulties diagnosing them — especially for women.

The fellowship is a yearlong service-based program that empowers graduate students to do a community health service project that helps address systemic health inequities. Not only are the students paired with a faculty member to try to identify barriers to care, the overall goal is to improve health equity.

Myers also is an autoimmune dermatology research fellow in the UNC dermatology department who calls Culton her mentor. While in clinic every Thursday, Myers said she hears anecdotes from many patients about “how it’s taken years and years and years to figure out their diagnosis and … hearing the struggle of their journey.”

Myers and Rashmi Deshmukh, a UNC dental student who also is a Schweitzer fellow, started an initiative called OASIS, or the Oral Autoimmune and Support Intervention Squad.

“OASIS is kind of a combination of dermatology, oral medicine and primary care, and it’s all about identifying autoimmune diseases earlier by identifying their oral manifestation,” Myers told NC Health News on a Zoom call with Zachary Brian, a professor at the UNC Adams School of Dentistry who’s working with the Schweitzer fellows and interested in equity-centered oral health policy.

Myers and Culton told NC Health News that many autoimmune conditions present first with vague symptoms in the mouth, and they noted that women are more disproportionately represented than men. Some research estimates that nearly 80 percent, or four of every five people diagnosed with autoimmune disease are women. 

Culton and Myers stressed the importance of raising awareness about these rare diseases and of getting more physicians and oral health providers to realize that persistent blistering in the mouth could be early signs of a rare autoimmune condition that could benefit from early intervention.

Brian, who comes at the issue from an oral health perspective, agreed. 

“We’ve had a long history talking about oral health as overall health, so a ‘window to the body’ as well as well-being,” Brian said. “And autoimmune, in particular — what’s fascinating about it, if that’s the right use of the word — is it disproportionately affects women, and something I think that’s really important is the gender bias that we have in health care.”

That can lead to much later diagnosis and treatment for some women, Brian added. “And so prognosis often is not as positive because they’re diagnosed much later and suffering for many years.”

Salt-and-vinegar chips

Letsky-Anderson has done much research into autoimmune conditions and her particular diagnosis throughout her medical odyssey. She wonders what would have happened had the first dermatologist she saw delved more into pemphigus.

“I just don’t think that you can dismiss things when someone comes in with weird symptoms.  I think you have to look for weird answers,” Letsky-Anderson said.

Now, she’s undergoing a medical therapy that, as she describes it, completely shuts down her immune system for about six months. The hope is that somewhere between six and 18 months it will reboot without the autoimmune antibodies creating the pemphigus symptoms.

She has to work from home and make special arrangements to do something as common as going to a hair appointment. “When I go see a doctor, I wear an N-95 mask,” she said. “I’m getting a haircut next week, and they’re putting me in a private styling suite and making sure my stylist hasn’t been sick days before.”

Now that she can eat more than baby food, she’s gained about 10 pounds back. 

“Being able to even chew chicken breast, that was something I couldn’t do for over a year — anything solid would just pull the flesh out of my mouth,” Letsky-Anderson said. “So just being able to bite into a grilled cheese sandwich, like a piece of chicken, or have a salad again, those things have been amazing to be able to eat that kind of food again.”

Still, there are some things she hasn’t been able to add into her diet yet. Acidic salad dressing, citrus, and something she craves — salt and vinegar chips — are still too tangy for her.

“I crave them,” she said. “I love tangy, vinegary things. That’s one thing I haven’t been able to go back to — salt and vinegar chips. They’re both crunchy and tangy. Those are both hard issues still.”

‘Just getting started’

One aspect of her journey that Letsky-Anderson would like to highlight is the toll that a medical mystery can take on a person’s mental health.

“The thing that was underplayed by a lot of the doctors until I got to Dr. Culton was the mental health burden of being sick like this,” Letsky-Anderson said. “Then when I got to Dr. Culton, they had all these resources in place.”

Through the OASIS program that Myers helped create, the two began doing online yoga classes together. One of the offerings is a support group with other patients going through some of the same issues. Not only does an expert come in every month to talk with them, but they have an opportunity to talk patient to patient.

“We’ve been doing OASIS for about a year now,” Myers said. “We’ve helped over 100 women who have oral symptoms who’ve either been diagnosed with or are undergoing workup for a diagnosis with an autoimmune condition.”

The program also does quality of life surveys, and, according to Myers, nearly 75 percent of the women that they’ve treated have “shown improvement with their quality of life scores as it relates to the oral symptoms since initiating care of the symptoms and collaborating with OASIS.”

Culton invited Letsky-Anderson to virtually attend an international conference that also addressed the mental health burden of the diseases. 

“That’s a piece I felt was missing for the whole year and a half I struggled with a medical mystery,” Letsky-Anderson said. “Nobody seemed to care that I was falling apart.”

The conference, while interesting and overwhelming, also gave her a jolt of reality. “I started having the inkling that just getting the diagnosis was not the end of the road,” Letsky-Anderson said. “I mean when you search for an answer for over a year and a half and you get the answer, you think, ‘Ah, we did it.’ But going to the conference let me know that we’re just getting started.”

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