Mastocytosis - Causes, Symptoms and Treatment

Definition

Mastocytosis is a disorder characterized by mast cell proliferation and accumulation within various organs, most commonly the skin. It is a disorder in both children and adults. It is caused by the presence of too many mast cells in your body. You can find mast cells in skin, linings of the stomach and intestine, and connective tissue. 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. When an UP or M lesion is stroked, it typically urticates, becoming pruritic, edematous, and erythematous. This change is referred to as the Darier sign, which is explainable on the basis of mast cell degranulation induced by physical stimulation.

Causes

1. The exact cause of mastocytosis is unknown.
2. Mastocytosis is caused by excessive numbers of inflammatory cells in the skin. Other forms include solitary mastocytoma i.e. a single lesion and systemic mastocytosis i.e. involvement in organs other than the skin.
3. Activating mutations of the proto-oncogene c-kit have been identified but do not explain the initiation of the disease.
4. Age is also an important cause of this disease. It is most often seen in children, but it can occur in adults as well.
5. Most reported cases are in whites. The cutaneous lesions of most types of mastocytosis are less visible in more heavily pigmented skin.

Symptoms

1. If there are too many mast cells in your skin, you might have a red and itchy rash.
2. If you rub the rash, it may get red and swollen.
3. Sometimes the mast cells collect at one spot in your skin and cause one large lump.
4. Chemicals released by mast cells can cause changes in your body’s functioning that lead to typical allergic responses such as flushing, itching, abdominal cramping, and even shock.
5. Other symptoms include epigastric pain due to peptic ulcer disease, nausea, vomiting, chronic diarrhea, arthralgias, bone pain, and neuropsychiatric changes.

Treatment

1. Urticaria pigmentosa goes away by puberty in about half of the affected children.
2. Epinephrine is used in acute anaphylaxis. H1 and H2 receptor blockers are used to control anaphylactic symptoms. It is the initial treatment to this disease and usually remains effective.
3. The best treatment for mastocytosis may be to stay away from the things that seem to trigger your symptoms. Extremes of temperature, alcohol and certain drugs like acetylsalicylic acid, dextromethorphan ethanol gallium etc. should be avoided completely or used with caution.
4. Antihistamines may relieve some of the histamine-induced symptoms such as itching and flushing.
5. Some surgical procedures, such as laparoscopy and bone marrow biopsy and sometimes endoscopy can precipitate anaphylaxis, and patients undergoing these procedures should be closely monitored.