How Do You Cope When a Disease Causes Your Body To Attack its Own Skin

Higher Incidence of Pemphigus In Ashkenazi Jews

Months To Diagnose: Rebecca Oling enjoys symptom-free weeks with husband Scott Oling.
Courtesy of Mary Lou Johnson
Months To Diagnose: Rebecca Oling enjoys symptom-free weeks with husband Scott Oling.

By Maia Efrem

Published August 06, 2013, issue of August 16, 2013.

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.

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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.”



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