Mastocytosis is a disorder characterized by mast cell proliferation and accumulation within various organs, most commonly the skin. Mast cells are located in connective tissue, including the skin, the linings of the stomach and intestine, and other sites. Mast cell are found throughout the body, but are especially plentiful in the skin and digestive tract. Mast cells are part of the immune defense system. They are also found around wounds, and seem to play a role in healing of injuries. They play an important role in helping defend these tissues from disease. Mast cells seem to have other roles as well. Mast cells express a cell surface receptor termed c-kit[2] (CD117), which is the receptor for scf (stem cell factor). Mast cells may have a role in the growth of blood vessels.

Mastocytosis affects males and females equally. Chemicals released by mast cells cause physiological changes that lead to typical allergic responses such as hives, itching, abdominal cramping, and even shock. Stroking the lesions causes them to itch.Symptoms of mastocytosis in the skin are: red and itchy rash, hives, rash that looks like freckles, or a lump on your skin. Symptoms of mastocytosis in the stomach and intestine are: diarrhea and stomach pain. Other symptoms of mastocytosis include: abdominal cramping, bone pain, abdominal discomfort, nausea and vomiting and episodes of hypotension or shock. Antihistamines, which are often used to treat allergies, are helpful. H1 and H2 antihistamines in combination or alone remain the primary drugs of choice.

Topical steroids temporarily reduce skin lesions that are cosmetically disturbing. Steroids treat malabsorption, or impaired ability to take in nutrients. Corticosteroids can be used topically, inhaled, or systemically to reduce inflammation associated with mastocytosis. Skin targeted therapies that lead to a resolution of the lesions of cutaneous mastocytosis are psoralen-photochemotherapy and topical corticosteroid therapy either by occlusion or intralesional injection for a limited number of lesions. Albuterol and other beta-2 agonists open airways that can constrict in the presence of histamine. Leukotriene antagonists block receptors targeted by leukotrienes released from mast cells. Leukotriene antagonists block receptors targeted by leukotrienes released from mast cells.

Mastocytosis Treatment Tips

1. Antihistamines frequently treat itching and other skin complaints.

2. Topical steroids temporarily reduce skin lesions that are cosmetically disturbing.

3. Steroids treat malabsorption, or impaired ability to take in nutrients.

4. Proton pump inhibitors help reduce production of gastric acid.

5. Use of imatinib to treat patients with c-kit mutations.

6. Nifedipine, one of the dihydropyridines, may reduce mast cell degranulation.