Mastocytosis is a disorder characterized by mast cell proliferation and accumulation within various organs, most commonly the skin.
Mast cells are found in the in skin, lymph nodes, internal organs such as the liver and spleen, and the linings of the lung, stomach, and intestine. They play an important role in helping the immune system defend these tissues against disease by attracting immune defense cells to areas of the body that are under threat, by releasing chemical "alarms" such as histamine and cytokines.
Mast cells gather around wounds, so they are believed to play a part in wound healing. The typical itching is commonly felt around a healing scab may be caused by histamine released by mast cells. Mast cells may also have a role in the growth of blood vessels.
Mastocytosis is believed to affect under 200,000 people in the United States. However, it may often be misdiagnosed, especially because it typically occurs secondary to another condition, and thus may occur more frequently than assumed.
The presence of too many mast cells (mastocytosis) can occur in two forms: cutaneous and systemic. The most common cutaneous (skin) form is also called urticaria pigmentosa, which occurs when mast cells infiltrate the skin. Systemic mastocytosis is caused by mast cells accumulating in the tissues and can affect organs such as the liver, spleen, bone marrow, and small intestine.
When too many mast cells are present in the body, the chemicals that they release can cause:
Cutaneous mastocytosis is diagnosed by the appearance of the skin (characteristic lesions that are dark-brown and fixed: urticaria pigmentosa), and confirmed by finding an abnormally high number of mast cells through a skin biopsy.
Systemic mastocytosis is diagnosed by finding an increased number of abnormal mast cells during an examination of the bone marrow.
Other useful tests include measurement tryptase (a protein) from mast cells in the blood and a search for specific genetic mutations that are associated with this disease.
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