Q: I was diagnosed with mastocytosis six months ago by a dermatologist at a large medical center 80 miles away. My symptoms are extreme itching of the scalp, underarms and warm parts of my body and face. Narrow band light box treatment two times each was stopped due to the distance and onset of hypertension, now controlled. Ketoconazone and Clobetsol shampoos, Olum-E, Clindamycin lotion, etc. give only temporary relief. I also have food and environmental allergies. Where should I seek help?
A: Before I answer your question, I will explain what this complicated sounding disorder actually is. Mast cells are various tissue types within the body that contain vast amounts of granules that are rich in histamine and heparin. They resemble basophils (a type of white blood cell) in function and appearance but differ because they arise from different cell lines. They are involved with the healing of wounds and as a defense against microorganisms that have the capability to cause disease. They may also play a role in the growth of blood vessels. They are found on the skin, liver, spleen, lymph nodes, and in the lining of the intestines, stomach and lungs. These cells accumulate around wounds and may play an important role in the healing process. The itch we’ve all felt when a scab forms around a wound occurs because of the histamine released from the cells.
Mastocytosis is a group of disorders characterized by the presence of too many mast cells in one or more tissues. It can occur in two forms – cutaneous (skin) and systemic (internal). Systemic forms generally progress slowly; however there is another type that is more aggressive, develops rapidly, and may be associated with organ damage. Extremely rare forms of systemic mastocytosis include mast cell leukemia and mast cell sarcoma. Symptoms may include itching, flushing, abdominal cramps, vomiting, diarrhea, low blood pressure referred to as hypotension, and even anaphylaxis.
The condition can affect the young and old, males and females, and presents in the cutaneous form, absolutely anywhere on the body. The cutaneous form is most common and affects about 90% of all reported cases. Subtypes include urticaria pigmentosa with tan/red/brown lesions on the skin, often beginning on the midsection of the body; solitary mastocytoma commonly seen in infants and young children with a large nodule on an arm or leg; telangiectasis macularis eruptiva perstans commonly seen in adults that have small lesions that do not itch; diffuse erythrodermic mastocytosis commonly found on children younger than three years of age and may present with skin thickening and blisters; and the systemic form that involves the inner body. Interestingly, this form often is preceded by urticaria pigmentosa.
A health care provider can diagnose its presence on skin visually, or may choose to perform a skin biopsy which will reveal an elevated number of abnormal mast cells. The systemic form will require bone marrow testing or measuring the amount of tryptase, a protein, present in the blood.
Treatment for the skin is commonly begun with over-the-counter antihistamines that should reduce the unwanted side effect of itching. More intense therapy may include prescription Cromolyn sodium to lessen abdominal cramping, proton pump inhibitors to relieve ulcer-like symptoms, steroids for malabsorption, epinephrine for anaphylaxis, and more.
I am unaware of your location but recommend you speak with your health care provider regarding a top notch center such as the Mayo Clinic, Cleveland Clinic, Brigham & Women’s, UCLA, UC San Francisco or Stanford with an allergist and immunologist heading their department for mastocytosis. I know you are likely reluctant to travel 80 miles from home for frequent visits and I don’t blame you for that but they may be able to turn your case over to a facility half that distance away. You need stabilization and apparently, different medication. Good luck.
