Mastocytosis is a rare disorder that occurs with abnormal accumulation and spread of too many mast cells within skin and sometimes several other organs of the body.

Mast cells can be present in skin, linings of the stomach, intestines, bone marrow and connective tissue like cartilage or tendons.

Mastocytosis can be distinguished from typical allergic reactions because of its chronic nature. Mastocytosis develops with the rise in the number of mast cells and their accumulation in tissues over a period of years.

Though mastocytosis can affect people all age groups, it becomes severe in adults. Children who mildly develop this condition often outgrow it.

What are Mast Cells?

Mast cells (a type of blood cells produced by bone marrow) are a part of immune system that enables the body to resist infections.

The histamine (a chemical produced by mast cells) leads to swelling, itching and redness when the body reacts to something.

Mast cells can accumulate more in skin, lungs and intestines than all other parts of the body. The increase in the number of mast cells leads to rise in the levels of histamine.

What causes mastocytosis?

Development of so many mast cells in the body is still beyond comprehension, but some environmental factors like cold or heat, certain medicines, emotional stress and insect bites are believed to be triggering the release of histamine from mast cells, resulting in the symptoms of mastocytosis. However, triggers vary from person to person.

Mastocytosis Symptoms

Reddish and itchy rash

Rash may resemble freckles

Hives

A large lump visible on the skin

Diarrhea

Pain in stomach

Fainting

Difficulty to breath

The symptoms may vary in accordance with the location of the extra mass cells. The presence of large number of mast cells in the skin may lead to formation of red and itchy rash in the skin.

You may have hives or a rash that resembles freckles. The rash may turn reddish and become swollen, if rubbed. Sometimes accumulation of mast cells at one spot in your skin causes formation of a large lump.

The abnormal accumulation of mast cells in stomach and intestines may cause diarrhea and stomach pain.

The abnormal mast cells deposits may sometimes lead to a bad allergy reaction. In such cases the blood pressure may become low all of a sudden and result in faintness and create difficulty in breathing. This reaction may result in death if treatment is not started instantly. However, this type of serious reaction is very uncommon and rare.

Diagnosis

The symptoms of mastocytosis may be similar to that of many other conditions. Your doctor may think of conducting skin biopsy (a microscopic examination of a piece of skin) to know factors causing such symptoms in your body.

If an adult has mastocytosis, the biopsy of bone marrow may be required to know whether there are other blood diseases accompanying mastocytosis.

Your doctor may feel the need for conducting blood test or urine test in case you have diarrhea or various other symptoms excluding the rash on your skin.

Mastocytosis Treatment

Treatments are required especially for severe cases of mastocytosis. Mast cells may stop releasing histamine after treatment.

Antihistamines, which are mostly effective in treatment of allergies, can be helpful in treating mastocytosis as well.

If you are concerned about the rash, your doctor may recommend treatment through ultraviolet light.

If you have diarrhea, your doctor may prescribe an oral medicine, called cromolyn.

It is advisable to keeping away from the things that appear to be triggering your symptoms. Exposure to heat or cold, emotional stress, certain medicine or insect bite may trigger symptoms and therefore it becomes essential for you to let your doctor know if any of these factors triggered symptoms while you go for treatment.

Since systemic mastocytosis may lead to severe allergy reaction, it is advisable to always keep an emergency kit so that you can take medicine to check a bad reaction.

Can mastocytosis be malignant?

Mastocytosis is an uncommon condition that occurs with presence of to many mast cells in which the body. There may be different kinds of mastocytosis, but the most common types do not have carcinogenic actions. Types of mastocytosis can be determined through the areas of the body affected by the condition.

Cutaneous mastocytosis: If mast cells abnormally accumulate in the skin, the condition is called cutaneous mastocytosis. Cutaneous mastocytosis is not a cancerous disease. It can mostly affect young children and often goes away on its own, as children grow older.

Systemic mastocytosis: The abnormal presence of too many mast cells in other parts of the body can be described as systemic mastocytosis. This type of mastocytosis commonly affects the adults. The mild form of this condition is known as indolent systemic mastocytosis. Systemic mastocytosis too is not cancerous, though it is incurable and its symptoms are often uncontrollable irrespective of treatments.

There can be more serious types of systemic mastocytosis such as SM-AHNMD (Systemic mastocytosis with an associated clonal haematologic non-mast cell disease), Aggressive systemic mastocytosis, Mast cell leukemia and Mast cell sarcoma. Such types of systemic mastocytosis may be malignant. Since they are very uncommon, doctors are not sure which treatment can be the best.

Researches are underway to look for the effective treatments. However, all these types of systemic mastocytosis can be treated much in the same way as it is done for blood cancers such as leukemia. Treatments may include chemotherapy, experimental treatments like stem cell transplants and Imatinib (Glivec).