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Posted by Dr. Sushrut Jangi September 9, 2013 11:43 AM
This is the case of a real patient seen in a Boston hospital. After reading the case, I invite you to think through the facts and try to determine a diagnosis in the comments section below. The answer will be posted Friday.
A visit to a pathologist would be very different from seeing a regular doctor: there is no waiting room, no examination table, nor a nurse to take your height and weight. Instead, you travel to the pathologist in bits and parts -- a slide of your skin, a smear of your blood cells, or perhaps a sliver of bone marrow. The pathologist then tries to identify patterns in the tissue structure, searching for the telltale footprints of a diagnosis. "This is what drew me to pathology," said Dr. Susan Lester, chief of Breast Pathology at Brigham and Women's Hospital. "I got to sit in an office, surrounded by textbooks, with an aim to observe, notice, and classify disease."
But for the pathologist, like for any clinician, diagnoses aren't always straightforward. One day, during her pathology residency, Dr. Lester received a breast biopsy from a woman who kept returning to the doctor with signs of a painful breast abscess. A breast abscess, or collection of pus in the breast tissue, is not in itself unusual -- almost 10 percent of lactating females develop inflammation of breast tissue and can go on to form an abscess, usually colonized by swarms of Staphylococcal bacteria. What was odd about this case was that the patient wasn't lactating -- she was an older woman. Moreover, these infections usually get better with antibiotics. This patient did not; after each course of antibiotics, she came back with the same symptoms.
Dr. Lester had heard about cases like this before. Sometimes, when patients get re-infected by the same bacteria over and over, doctors suspect that patients might be infecting themselves to get attention, either willingly or subconsciously, a psychiatric condition called Munchausen's syndrome. But that kind of diagnosis was a last resort - a patient with recurrent illness might also mean a clinician is repeatedly missing the same boat.
Dr. Lester hoped she could help crack the case by finding a diagnosis hidden in the tissue, even though she would probably never meet the ailing patient. "Sometimes," she acknowledged, "pathologists do become a little divorced from the patients we are trying to help." After spending all day looking at slides, she said, it becomes possible to forget that the tissues belong to real patients, who days later, may receive a serious diagnosis from a clinician because of the pathologist's diagnosis. So while beginning a new case, she gently reminds herself: "Just imagine this diagnosis could be for your mother or for your child."
Under the light of a microscope, Dr. Lester carefully examined the slides processed from the patient's biopsy. In the tissue, she didn't see any swarms of bacteria that you might find seeding an abscess. Instead, she saw clusters of lymphocytes, plasma cells, and giant cells -- the kinds of cells that accumulate in an inflammatory response. But that wasn't enough: she needed a specific finding that might reveal a cause for the woman's recurrent disease.
She showed the slide to a colleague, who noticed a puzzling finding: some of the normal glands that ordinarily line the milk-producing ducts of the breast near the nipple had transformed to resemble the cells of the skin, and they were making a substance called keratin, the dry, scaly stuff that comes off nails and skin surfaces. "He knew he had seen this pattern before, but he couldn't remember the exact significance," Dr. Lester said.
She saw him pulling textbooks off his bookshelves and scientific papers out of his old case files. They paged through images and case descriptions. These were the kinds of mysteries that had brought Dr. Lester to this field. "You need to have a good visual memory, attentiveness to detail, and an intense curiosity about finding the cause of disease," she reflected.
Together, she and her colleague provided the patient's clinicians with a diagnosis.
This is what she saw under the microscope:
What was happening to this woman?
Picture Courtesy: Textbook - Diagnostic Pathology: Breast
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About the authorSushrut Jangi is an internist at Beth Israel Deaconess Medical Center and an editorial fellow at The New England Journal of Medicine. More »
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