Mastocytosis is a condition that develops when your body or skin produces too many mast cells. These mast cells are part of the immune system and help the body fight disease and facilitate healing, but an overabundance of mast cells causes them to build-up in the liver, spleen, bone marrow and small intestine. An excessive accumulation of mast cells in the skin is called urticarial pigmentosa.

Cause of Mastocytosis

The exact cause of mastocytosis is unknown, but genetic mutations are known to be involved. These genetic changes causes the body to produce more mast cells when a specific type of protein (stem cell factor) is present. Certain medications and bee stings can trigger bad reactions in individuals with mastocytosis or urticarial pigmentosa.

Mastocytosis occurs in both children and adults and can be passed down through families or may occur spontaneously.

Symptoms of Mastocytosis

Chemicals released by mast cells cause the allergic symptoms seen in mastocytosis. Urticaria pigmentosa, a condition where dark skin patches develop and the face becomes flushed can occur in response to these chemicals. This can also lead to severe itching, hives, abdominal cramps and in extreme cases, hypotension and anaphylaxis.

Other symptoms of mastocytosis include musculoskeletal pain, abdominal discomfort, nausea, vomiting, diarrhea and ulcers.

Diagnosing Mastocytosis

Your dermatologist can usually diagnose mastocytosis by visually examining the skin. A skin biopsy may also be performed to confirm an excessive number of mast cells are present.

Other tests may be done including, blood tests to measure the amount of tryptase (a protein released by mast cells) and genetic testing to look for gene mutations in the case of systemic mastocytosis. Histamine levels in the urine may also be tested.

Treatment of Mastocytosis

Treatment of mastocytosis is aimed at controlling symptoms and includes:

  • Antihistamines for symptoms of itching
  • Proton pump inhibitors (Nexium, Prevacid, Prilosec) for ulcer symptoms
  • Steroids
  • Cromolyn sodium for relief of abdominal symptoms
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