Article previously published in the Cutaneous Lymphoma Foundation's Forum Spring 2011 newsletter.
Challenges of an Uncommon Disease
Uncommon diseases pose a number of challenges, one of which is the difficulty patients and physicians face in reaching a proper diagnosis. Cutaneous lymphomas (CL) or “skin lymphomas” are a group of uncommon diseases that encompass various disorders with different signs, symptoms and treatment considerations. The most common type of skin lymphoma is cutaneous T-cell lymphoma or CTCL. (1) In the United States, there are about 2,000 to 3,000 new cases per year.(2) A less common form of skin lymphoma is primary cutaneous B-cell lymphoma (1); however, both types require equal consideration and physician attention in order to reach a proper diagnosis. A definitive diagnosis will help inform treatment decisions and potentially yield better patient-related outcomes over time.
Building a Case for Proper Diagnosis
One of the key concepts for patients and their caregivers to understand is that a clear diagnosis may take time. The best approach is for patients to collaborate and work with their physicians to confirm what disease they have. In milder cases of CL, ruling out non-cancerous reactive processes resulting from medication, external environmental exposure, or inflammatory conditions of the skin is crucial. From there, physicians and patients can determine the appropriate next steps in care, treatment and medication regimen. With a number of different CL types and subtypes, building a case for diagnosis based on multiple elements is vital. Assessment of a patient’s symptoms coupled with their history of skin lesions and consistent biopsies are all critical components that help build a patient’s individual case and accelerate the diagnostic process.
Assessing Skin Lesions
By definition, all CLs present skin-related symptoms, the most common of which are skin lesions. When a patient presents with skin lesions, their physician will work to differentiate whether the lesions are the result of a reactive process versus a lymphoma of the skin. A reactive process, which can include the body’s response to a bug bite, allergic reaction to medication, or other inflammatory processes of the skin such as eczema or psoriasis, is the gathering of immune system cells, often non-cancerous “T-cell lymphocytes” in the skin to defend against and fight off invading entities; sometimes reactive processes occur for reasons we do not understand.
In contrast, skin lymphomas are cancerous proliferations or an excess of malignant T-cell lymphocytes growing within the skin. Since reactive processes and other types of inflammation can trigger symptoms similar to those of CLs, a physician’s expertise in conjunction with testing will help make the critical differentiation between the two. In some cases, test results may not be conclusive, which means they cannot clearly differentiate between a skin lymphoma versus reactive process.
When a diagnosis is not definitive, the patient should discuss options with their physician. Certain patients may wish or receive the recommendation to seek relief from symptoms by starting a non-lymphoma specific treatment such as a topical lotion, steroid cream or ointment, or even ultraviolet light therapy. Others may prefer or obtain a recommendation to have the physician take additional biopsies of the skin lesion to try to yield more conclusive results. However, to conduct an effective biopsy, the patient will need to be off topical steroids and ultraviolet light treatment regimens. While these treatments may provide temporary symptom relief, they can also mask potential symptoms of skin lymphomas and thus delay a patient’s definitive diagnosis.
The Role of Consistent Biopsies
Consistent biopsies over time are an integral step in obtaining a proper diagnosis. A biopsy is a simple outpatient procedure that involves removing a small sample of tissue from the skin for examination. When a biopsy is performed, local anesthetic is given prior to the procedure. Following the procedure, the skin is sewn together with a couple of stitches, leaving a very small, almost invisible, scar.
A patient’s doctor, in conjunction with a pathologist, who is an expert in reading biopsy results, will work together to render the proper diagnosis. The pathologist analyzes the biological tissue and reviews all test results. Typically, the presence of an excess number of certain kinds of T-lymphocyte cells that are arranged in certain patterns within the biological tissue often gives strong clues or indicates to the pathologist that a patient has a skin lymphoma. A definitive diagnosis cannot be obtained without a biopsy and multiple biopsies are necessary to confirm the presence of excess T-lymphocyte cells and these consistent patterns.
Patients and Caregivers Working Together to Fight Cutaneous Lymphoma
CL is sometimes a progressive and most often an incurable disease. In certain cases, the disease may be mild and, even without strong treatment, may not progress over time, which is why it’s imperative to find a balance between knowing what a patient has and seeking treatment. A clear diagnosis may take time, so patients and their caregivers will require patience and persistence. Accuracy in determining whether a patient has CL, and which subset of CL, is paramount in determining the best course of care and treatment. A premature diagnosis could expose the patient to insufficient or unnecessary medication regimens.
Organizations like the Cutaneous Lymphoma Foundation can help patients collaborate with their physicians and offer guidance on how to best engage in open communication. If a patient is ever dissatisfied with their diagnosis, they should seek a second opinion, conduct research and visit a cancer center that sees a high volume of CL patients. With or without a clear diagnosis, patients should remain under the care of an experienced physician they trust to foster understanding of their disease, diminish frustrations and ensure the road to diagnosis is as manageable as possible.
(1) Cutaneous T-Cell Lymphoma. The Leukemia & Lymophoma Society Website. Available at: http://www.leukemia-lymphoma.org/attachments/National/br_1163608564.pdf. Accessed on February 21, 2011.
(2) Criscione, V. D. et al. Arch Dermatol 2007;143:854-859.
Steven Horwitz is an Attending Physician in the Department of Medicine at Memorial Sloan- Kettering Cancer Center in New York City. He grew up in Cleveland, Ohio and earned his medical degree at Case Western Reserve. Dr. Horwitz completed an internship and residency in internal medicine at the University of Rochester/ Strong Memorial Hospital in Rochester, New York and then completed a fellowship in medical oncology at Stanford University Medical Center. Dr. Horwitz has a clinical research focus in non- Hodgkin lymphomas, in particular many of the more rare lymphomas such as T-cell lymphomas and lymphomas of the skin.