It all started with sensations of itchy feet that would come and go for no particular reason. Janet Martellotto Streeper, 63, made appointments with her primary care physician and a dermatologist to see what might be the cause and how to get relief. She left both appointments without much success.

Then she noticed a small, irritating lesion on her vulva. She made an appointment with her gynecologist to bring this to her attention during an annual checkup. Her primary care doctor and gynecologist recommended she continue routine health-care exams to monitor the lesion, including a gynecological exam, pap smear, and colonoscopy.

These screenings were especially important because Streeper had been diagnosed five years prior with follicular lymphoma — a cancer that affects white blood cells. She was treated by her oncologist Andrew Chapman and had remained in remission since that time.

Then, fullness occurred in her right ear, including a muffled sensation in the ear and occasional pain behind the ear that would travel down her neck. Streeper went to see an ear, nose, and throat surgeon who ordered an imaging study to assess potential hearing loss. Fortunately, the symptoms weren’t associated with any hearing loss.

The development of these sudden issues that were seemingly unconnected to her previous lymphoma or its treatment stumped her and her physicians.

Solution

At a follow-up gynecological exam, the lesions were biopsied and found to be the result of Langerhans cell histiocytosis (LCH), a rare cancer. Three weeks later, a colonoscopy revealed nodules in her colon, which also showed LCH.

Langerhans cells are a type of white blood cell that fights off infection. Everyone has them. Rarely, there is an excess production of these cells and, instead of fighting infection, they start to fight and destroy normal tissues. Most commonly this process affects the bones (as Streeper’s bones near her ear were affected) but can also affect the lungs, skin, liver, genitals, brain, and pituitary gland.

The fullness in her right ear continued to bother Streeper, as did the concern that this new diagnosis might be related to her history of lymphoma.

At a visit with Chapman, he noted enlarged lymph nodes in her neck and ordered a PET scan to evaluate the status of her lymphoma. The PET revealed swollen glands throughout her body.

In a follow up appointment with the ear, nose, and throat surgeon, an MRI revealed a mass in her inner ear, and the enlarged lymph nodes in her neck were biopsied and revealed LCH.

At this point, Streeper continued care with her oncology team, which now included blood cancer specialist Joanne E. Filicko-O’Hara, which worked to make sense of how this all might be related to her history of lymphoma. Together, the team made a plan that started with seeking guidance from a national expert in LCH, as it is such a rare disease, only occurring in one out of 200,000 children and one to two out of a million adults.

After consultation, following recommendations, Streeper started on a course of several months of chemotherapy and saw improvement in her disease.

Unfortunately, she still had a long road to recovery. Her disease progressed. She required radiation to her vulva a year later and the infection in her ear a year after that. Eight months later, there was evidence the disease progressed again.

Streeper underwent another line of chemotherapy, plus a stem-cell transplant using her sister as her donor, with good response. She has been in remission for the last four years. She continues to have inner ear problems related to LCH, but has otherwise returned to a normal life.

LCH is a slow, progressive disease with symptoms related to the area involved. Studies have shown that over 90% of adult patients with LCH in the lungs have a history of cigarette smoking, although this would likely not be a cause in children or adults without lung involvement, such as Streeper. In some patients, it seems to be related to lymphomas, like Streeper’s prior history.

It may take months or years to make this diagnosis, since it is very rare and may present to a variety of different doctors. In Streeper’s case, she was diagnosed during a routine gynecologic follow-up and colonoscopy, a reminder of how important regular health screenings are.

Joanne E. Filicko-O’Hara is a specialist in blood cancers and stem-cell transplantation, associate professor of medical oncology, and the director of the Hematology/ Medical Oncology Fellowship Program and the director of inpatient services at Sidney Kimmel Cancer Center at Jefferson, where Andrew Chapman is a professor of medical oncology specializing in geriatric oncology, and the chief of cancer services.