No big deal, software consultant Ed Williams thought, when he developed an itchy red rash after playing in a golf tournament in the summer of 2004. Williams suspected he’d wandered too close to a patch of poison ivy or touched something that had triggered an allergic reaction. “I figured it would just clear up,” recalls Williams, who lives in a suburb of Rochester, N.Y.
But when the rash on his arms, legs and back persisted, Williams, who had not had skin problems previously, consulted a dermatologist. The doctor initially told him he had contact dermatitis, a common skin condition triggered by a variety of irritants. Doctors later decided his problem was psoriasis, which causes scaly skin and intense itching and can appear suddenly.
Contending with his inflamed and often painful skin condition, along with numerous futile efforts to treat it, would consume the next six years of Williams’s life. Nearly two dozen specialists were unable to figure out why the rash, which periodically spread to his face, would sometimes get better but never entirely disappear.
In the end, its unlikely cause turned out to be far more terrifying than Williams ever imagined. Subsequent treatment not only swiftly cleared up his skin, it also saved his life.
The case also left an indelible impression on Brian Poligone, a University of Rochester dermatologist and the ninth specialist Williams consulted, who finally figured out what was wrong. “It’s a really incredible story . . . and will be one of those cases that I bring up in my career,” said Poligone, 39...
...Poligone said he sat down [in 2010] and listed four possible diagnoses: One was an Id reaction, a rash caused by a fungal infection, usually athlete’s foot. A second was necrolytic migratory erythema, or NME, a rash associated with a rare form of pancreatic cancer. NME is so rare that Poligone had never seen a case.
NME seemed unlikely. While he did have a rash, Williams did not have anemia, hyperglycemia, diarrhea or other characteristic symptoms, and multiple biopsies had not detected the abnormality.
“For the first time, I thought maybe the biopsies were lying,” Poligone recalled. Heald concurred and advised pursuing NME as a possible diagnosis.
Poligone ordered another skin biopsy — like its precedessors, it seemed to point to psoriasis — as well as two blood tests; one to measure the level of glucagon, a hormone produced by the pancreas, and another to measure his insulin level.
The tests were revelatory: Williams’s glucagon reading was 620 picograms per milliliter, far above the upper limit of normal of about 130. And his insulin level was 71 microunits per milliliter; the upper end of normal is 27.
The next step was a CT scan. The test, performed in December 2010, revealed a devastating finding: a cancerous tumor roughly the size of a plum in Williams’s pancreas. There was no doubt that Williams’s rash was NME and that he had a glucagonoma, a rare form of pancreatic cancer known as a neuroendocrine tumor. (Apple founder Steve Jobs succumbed to a different pancreatic neuroendocrine tumor called an insulinoma.)
1 in 20 million
Fewer than 250 cases of glucagonoma have been identified worldwide since 1942, and the American Association of Endocrine Surgeons estimates that about one in 20 million people annually will develop it. The tumor has no known cause, but in some cases a family history of cancer may be involved. (After his diagnosis, Williams discovered that his grandmother died of pancreatic cancer at age 68, although its specific type is not known.) Glucagonomas result from the overproduction of the hormone glucagon; this excess disrupts the production of insulin, which regulates blood sugar. About 70 percent of glucagonoma patients have NME, and many also lose weight, as did Williams, who had thought his gradual 30-pound weight loss was caused by the stress of dealing with the rash.
Surgery to remove the tumor is the preferred treatment because glucagonomas do not respond well to chemotherapy. Because such cancers, which grow slowly, tend to be detected only after they have spread beyond the pancreas, surgery cures only about 20 percent of such patients. Poligone said that he and his colleagues were pessimistic; Williams had had symptoms for more than six years, and they thought it was highly likely that his cancer had spread.
Poligone said he lined up an oncologist and a surgeon and then broke the news to Williams, who did not understand the gravity of his diagnosis at first.
“I really didn’t relate ‘tumor’ with ‘cancer’ until they told me I was going to be treated at the cancer center,” he recalled.
On Jan. 22, 2011, Williams underwent surgery. The results were the best anyone could have hoped for: The cancer had not spread to his lymph nodes or to his liver, and doctors believed they removed it all. Four weeks later, his rash was gone; subsequent tests have found no sign of cancer.