Mastocytosis is a rare medical condition characterized by an excess of mast cells in the tissues and organs of the body. Mast cells are specialized immune system cells which are designed to release histamine when they detect a problem, essentially sending up a red flag to alert the immune system to the situation. These cells also appear to play a role in wound healing, since they tend to gather in large numbers around the sites of injuries.
There are three types of mastocytosis: mastocytoma, urticaria pigmentosa, and systemic mastocytosis. A mastocytoma is a small, benign skin tumor, while urticaria pigmentosa involves the appearance of dark, heavily pigmented spots on the skin. In systemic mastocytosis, the internal organs of the body are affected, often causing digestive problems for the patient.
The cause of this condition has not been determined. Some children, for example, develop skin lesions in childhood and then grow out of it, while other people experience a late onset of severe mastocytosis. The condition is also not curable, but various medications can be used to manage the symptoms. Drugs can be taken, for example, to suppress the release of histamine, and to address the itching and immune reactions associated with this condition.
In the case of mastocytosis which causes skin lesions, the condition is usually relatively easy to diagnose, as all the doctor needs to do is look at the site and rule out potential alternate causes. Many people with this condition often experience extreme itching at the site, since histamine induces itchiness, and this can be a tipoff. Internal instances are sometimes harder to diagnose, and they require a biopsy to confirm. Patients who complain of symptoms like abdominal cramping and vomiting may run through several diagnostic tests before a doctor thinks about mastocytosis.
Diagnosis sometimes requires a consultation with an immunologist or another specialist who can narrow down the type of mastocytosis and its nature. Specialists also tend to be more informed about advances in the medical field, so they may be able to access newer treatments and other tools.
All three types of this condition are quite rare. People with mast cell diseases sometimes find that they benefit from linking up with support groups and organizations dedicated to mastocytosis, so that they can have contact with people who suffer from similar problems. Such organizations can provide tips for managing the symptoms, and valuable information about how to talk with doctors and how to get into studies on potential treatments and cures .