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Mastocytosis - Causes, Symptoms and Treatment

 

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Mastocytosis is an abnormal accumulation of mast cells in the skin and sometimes in various other parts of the body. Mastocytosis affects males and females equally. It can occur at any age. However, it's usually more serious in adults. Mast cells, a component of the immune system, produce histamine, a substance involved in allergic reactions and the production of stomach acid. Because the number of mast cells increases, levels of histamine increase. Mastocytosis is usually mild in children and they often outgrow it. There are three main forms of mastocytosis. In a rare form, mast cells accumulate as a single mass in the skin. Typically, a mastocytoma develops before age 6 months. In a form called urticaria pigmentosa, mast cells accumulate in many areas of the skin, forming small reddish brown spots or bumps. A single mastocytoma does not cause symptoms. Rubbing or scratching the spots of urticaria pigmentosa may make the spots itch. Itching may be worsened by changes in temperature, contact with clothing or other materials, or use of some drugs. Flushing and widespread reactions, including anaphylactic reactions, may occur.

Mastocytosis can come on at any age, but the disease is different when adults get it. Children with mastocytosis usually get it in the first year of life. Although the majority of cases follow an indolent course, some patients may have evidence of a blood disorder such as a myelodysplastic or myeloproliferative disorder at the time of diagnosis. The course and prognosis of mastocytosis in these patients are determined by this associated hematologic disorder. Urticaria pigmentosa can be diagnosed through the abnormally high concentration of mast cells in the skin. Lesions can be erythematous, tan, brown or pink in color. The diagnosis of systemic mastocytosis can be made by a biopsy showing an increased number of mast cells in an organ other than the skin. In children who have mastocytosis only in the skin, it is most likely that it will go away. This may take many years. Mastocytosis can be treated. Your doctor can prescribe medication to alleviate the symptoms. Unfortunately, mastocytosis cannot be cured.

Causes of Mastocytosis.

Mastocytosis can occur at any age. However, it's usually more serious in adults. Mast cells are found in everyone in the skin, gut and air passages. Mast cells contain many different natural chemicals, a common one being histamine. A number of things can trigger or cause the mast cells to release these chemicals, including heat, rubbing and certain foods and drugs. Mastocytosis is usually mild in children and they often outgrow it. The chemicals can cause symptoms that range from very minor to severe.

Common causes and risk factors of Mastocytosis:

  • Presence of too many mast cells in the body.
  • The family history of mastocytosis.
  • Cancer.
  • Any abnormality to the blood.
  • Diarrhea.
  • Episodes of very low blood pressure and faintness.
  • C-kit receptor mutation.

Signs and Symptoms of Mastocytosis

The symptoms of mastocytosis vary between individuals. The symptoms are different, depending on where the extra mast cells are. Consuming hot beverages, spicy foods, or alcohol may also make itching worse. Rubbing or scratching the spots may result in hives and make the skin turn red. Flushing and widespread reactions, including anaphylactic reactions, may occur. Systemic mastocytosis causes itching and flushing. It can cause widespread reactions, which tend to be severe and include anaphylactoid reactions.

Sign and symptoms may include the following :

  • Nausea and vomiting.
  • Red and itchy rashes over the skin.
  • Difficulty breathing.
  • Bone or muscle pain.
  • Abdominal discomfort.

Treatment for Mastocytosis

In children, a mastocytoma usually disappears spontaneously. Itching due to urticaria pigmentosa may be treated with antihistamines. Antidepressants are an important and often overlooked tool in the treatment of mastocytosis. Corticosteroids can be used topically, inhaled, or systemically to reduce inflammation associated with mastocytosis. The stress and physical discomfort of any chronic disease may increase the likelihood of a patient developing depression. There are clinical trials currently underway testing stem cell transplants as a form of treatment.

Treatment may include:

  • The best treatment for mastocytosis may be to stay away from the things that seem to trigger your symptoms.
  • Corticosteroids can be used topically, inhaled, or systemically to reduce inflammation associated with mastocytosis.
  • Topical cortisone creams and wet wraps have also been used.
  • Albuterol and other beta-2 agonists open airways that can constrict in the presence of histamine.
  • Proton pump inhibitors help reduce production of gastric acid, which is often increased in patients with mastocytosis. Excess gastric acid can harm the stomach, esophagus, and small intestine.
  • Itching due to urticaria pigmentosa may be treated with antihistamines.