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  • Mastocytosis

    The term “mastocytosis” defines a group of disorders caused by too many mast cells, which are a type of blood cell produced in the bone marrow.

    Their primary function is to fight infections and allergic reactions. There are two main forms of mastocytosis: cutaneous, which is the most common (90% of cases) and impacts the skin; and systemic, which impacts internal organs and the skin.

    Furthermore, various other classifications of mastocytosis exist:

    • Urticaria pigmentosa: seen in 70-90% of cases, identified by tan/red/brown skin lesions often on the torso.
    • Mastocytomas: more common in infants/children, large nodule on arm or leg
    • Diffuse cutaneous mastocytosis
    • Diffuse systemic mastocytosis: involves internal organs, can be indolent or aggressive diagnosis
    • Mast cell leukemia: cancerous form of systemic mastocytosis.

    The most common form of cutaneous mastocytosis was first identified in 1869, while systemic mastocytosis was reported in 1936.


    The disease affects both children and adults, although the most common cutaneous form affects mostly children and presents within the first two years of life. The risk of systemic mastocytosis typically rises with age. A mutation of the c-kit receptors may cause mastocytosis.


    Mastocytosis is considered a rare disease, affecting less than 200,000 people in the US; however, it is thought to be misdiagnosed frequently, making the number of actual cases higher. Some patients report a spontaneous clearing within five to 10 years. There is no cure for mastocytosis.


    The following “triggers” may influence a mast cell response: drug abuse, excessive alcoho consumption, preservatives, stress, sunlight, environmental toxins, bacteria/fungi/mold, artificial colors or flavorings, heat/cold, etc. Minimizing your exposure to these triggers may help redcuce you mastocytosis risk.

    Signs & Symptoms

    Many symptoms resemble an allergy reaction, and some patients report no symptoms. But the disorders are heterogeneous, appearing differently in each patient. Mastocytosis is an unpredictable disease, and symptoms can develop extremely quickly that require medical attention.


    • Itching/hives/rash/flushing
    • Anaphylaxis
    • Abdominal cramping/discomfort/pain
    • Skin lesions
    • Low blood pressure/fainting/dizziness/fatigue
    • Bone/muscle pain
    • Nausea/vomiting/migraines

    Other Signs & Symptoms

    • Hematological abnormalities
    • Malabsorbtion
    • Osteoporosis/osteopenia
    • Associated Disorders
    • Anemia

    Diagnosing Mastocytosis

    Doctors diagnose mastocytosis by identifying dark brown skin lesions through a skin biopsy.


    • Skin/bone marrow biopsy: a bone marrow biopsy is done if systemic mastocytosis is suspected.
    • Blood/urine test: to detect high levels of mast cells and histamines
    • Radiologic scans
    • Bone scans


    Patients with mastocytosis can join support groups (i.e. The Mastocytosis Society) for emotional support. Most patients do take medication to help dampen environmental triggers.


    • H1 and H2 blockers: antihisamines
    • Leukotriene inhibitors
    • Mast cell stabilizers
    • Proton pump inhibitors
    • Inhaled bronchodilators
    • Corticosteroids
    • Surgery: to remove lesions


    • Topical steroids: used with less prominent lesions
    • Epinephrine
    • Antidepressants
    • Dihydrophyridines
    • Chemotherapy: to counter cancerous mastocytosis but risks secondary cancers
    • Cytoreductive therapy
    • Ultraviolet light: used to counter rashes but raises risk of skin cancer
    • Stem cell transplants: success is inconclusive and varies from patient.