About once a month, Rebecca Oling develops painful lesions inside her mouth, a symptom of a rare skin disease she’s been battling since 2004. With medication it takes the lesion roughly a week to dissipate. But Oling, in remission, considers herself one of the lucky ones.
Feeling stressed by the deaths of her stepfather and her husband’s grandfather months apart, Oling, 44, developed her initial symptoms. “I thought they were canker sores that wouldn’t go away, and it was very painful,” said Oling, a librarian and faculty member at the State University of New York at Purchase. “I went to the dentist; the dentist sent me to my primary care physician. Then the infectious disease doctor could not help, and another dentist didn’t, either.” Oling, who was pregnant during the process, finally went to an oral pathologist, who performed a biopsy before diagnosing her with a condition known as pemphigus. “I was very lucky. I got it in my mouth and my nasal cavity, and it stayed there,” she said.
Pemphigus — a Greek word meaning “bubble”— is a rare, autoimmune blistering disease that affects 1 person out of every 100,000, with a higher incidence among Ashkenazi Jews and those of Mediterranean descent. According to the International Pemphigus & Pemphigoid Foundation, in Sacramento, Calif., it is estimated that 30,000 to 40,000 people in the United States are currently living with pemphigus and 49,000 more are diagnosed worldwide each year.
Pemphigus vulgaris, the most common form of the disease, often starts in the mouth as a fragile sore or a lesion. It can be limited to the mouth, but in most cases patients go on to have blisters and erosions elsewhere on the body. From the first sign of the disease to diagnosis, a patient will typically see about five different doctors over many months.
Pemphigus is not a genetic disease in the traditional sense of Mendelian inheritance. where those with inherited genes have higher chances of developing a particular disease. Carriers of pemphigus have a variant of an HLA gene, essential in producing proteins that initiate the immune system’s response to invasive pathogens.
“Not everyone who carries the protein develops the disease,” explained Dr. Animesh Sinha, an expert on pemphigus at the University at Buffalo’s School of Medicine and Biomedical Sciences “but those who do essentially have their immune system turn on itself, attacking healthy skin cells. The disease onset is usually in the fourth or fifth decade, but can occur in childhood.
“Often the story in autoimmune disease is that something traumatic happens and this person was predisposed to a disease and something tipped them over,” said Sinha. A death in the family, or major surgery, could be just such an environmental factor.
A report published in the March 2012 issue of the Journal of Investigative Dermatology and spearheaded by Israeli scientists from Tel Aviv Sourasky Medical Center found that those of Jewish descent were 40 times more likely to develop the disease than the rest of the world’s general population.
“Your immune system attacks the cells that keep the skin together, and eventually the skin starts coming apart, like mortar in the wall,” said Will Zrnchik, CEO of the IPPF. “Massive blistering makes some people look like they’ve been dragged behind a car. On other people it looks like chicken pox with dots. It may be everywhere. If untreated, those little dots start playing connect-the-dots. Four or five one day may look like 15 or 20 the next.”
Before the use of topical steroids, the mortality rate from pemphigus was 85%; the lesions would go untreated, and patients would die from secondary infections.
“The outside topical treatments, the steroid creams, heal the skin from the outside, but the only way to turn off [disease progression] is to stop the autoimmune system from attacking itself,” Zrnchik said.
During her flare-ups, Oling applies clobetasol, a topical steroid. Sometimes she also takes dexamethasone, a strong steroid that is injected into the periphery of the sore and suppresses the immune response.
Of the many mysteries surrounding the disease, one is the high female-to-male ratio of those affected. Of 800 patients in the IPPF registry, 73% are female. Research is being conducted to try to determine what role a patient’s gender plays.
Another issue is the emotional impact on patients. If you have the disease externally, attacking your skin, “you’ve got prejudice and care issues,” Oling said. “If you have it internally, people don’t see you’re sick, so they don’t understand what you’re complaining about.”
Now a board member at the IPPF, Oling has met a patient who had to cover her face and travel with a doctor’s note that told airlines she was not contagious. Others are so burdened with the disease’s financial toll that they have to choose between food and bandages.
“The disease causes a lot of isolation and a lot of stress,” Oling said. “Autoimmune diseases are worsened by stress.” With 70%–80% of instances involving the mouth first, the IPPF is launching an awareness campaign to educate the dental community on early detection. “It takes about five physicians an average of 10 months to diagnose the disease, and dentists are in there pretty early,” Zrnchik said. “If we can have dentists to diagnose it sooner, we can cut the 10 months out.”
The IPPF will target the schools that graduate the most dentists, and send patients and experts to speak to dental students to increase awareness.
Contact Maia Efrem at firstname.lastname@example.org
In order to learn more, get support or support the IPPF in its mission, visit www.pemphigus.org
Maia Efrem has worked at the Forward since 2010 and currently serves as research editor and assistant to the editor. Maia is the editor of the Assimilator, the Forward’s arts and culture blog and is responsible for the Forward’s annual Salary Survey. Previously she served as the editor of Blognik Beat, a blog written by students who emigrated from or have ties to the Former Soviet Union. Maia is a graduate of Hunter College and Columbia University’s Graduate School of Journalism.