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What is Mastocytosis ? 

Mastocytosis is a term that describes a group of disorders that are caused by too many mast cells in the body. A mast cell is a type of blood cell made in the bone marrow that is involved in allergic reactions and fighting parasitic infections. Mast cells produce histamine, a chemical that can cause itching, sneezing, congestion, swelling, and wheezing. Mast cells can increase along with some non-cancerous (benign) conditions. Sometimes, certain types of cancers may begin from the growth of abnormal mast cells.

There are two general forms of mastocytosis: cutaneous (skin) and systemic (whole body).

Cutaneous mastocytosis

Cutaneous mastocytosis is an increase of mast cells in the skin. About 90% of people with mastocytosis have the cutaneous type. Subtypes of cutaneous mastocytosis include:

Urticaria pigmentosa. The most common form of cutaneous mastocytosis is urticaria pigmentosa. Tan or red-brown spots (called lesions) on the skin are a main sign of urticaria pigmentosa. These spots generally appear on the midsection of the body at first, and then spread throughout the body. A person with this type of mastocytosis may also have nausea, vomiting, and diarrhea.

Solitary mastocytoma. More common in infants and children than in adults, this type usually forms a large nodule [3 centimeters (cm) to 4 cm in diameter] on an arm or leg.

Diffuse erythrodermic mastocytosis. Found most commonly in children younger than three years old, diffuse erythrodermic mastocytosis may not be noticeable when a child is born, but can later show up as a rapid thickening of the skin. Symptoms of systemic mastocytosis (see below) and blisters are also common.

Telangiectasia macularis eruptiva perstans. This type of cutaneous mastocytosis is found mostly in adults. The main signs are lesions that do not itch and are smaller than those of urticaria pigmentosa.

Systemic mastocytosis

Systemic mastocytosis involves internal organs throughout the body, including the gastrointestinal tract, bone marrow, liver, spleen, and lymph nodes. In 85% of people with systemic mastocytosis, the cutaneous mastocytosis subtype of urticaria pigmentosa developed first. The risk of developing systemic mastocytosis increases with age. Depending on the number of mast cells in an organ, it is classified as either indolent (grows slowly) or aggressive (grows quickly) mastocytosis. As the number of mast cells build up in an organ, the symptoms of the disease worsen.

Systemic mastocytosis can become malignant (cancerous). The risk of systemic mastocytosis becoming cancerous is 7% when the disease begins in childhood and as much as 30% in adults. Mast cell leukemia involves the blood, while mast cell sarcoma involves the soft tissues.

Symptoms and Signs

People with mastocytosis may experience the following symptoms or signs. Sometimes, people with mastocytosis do not show any of these symptoms. Or, these symptoms may be caused by another medical condition. If you are concerned about a symptom or sign on this list, please talk with your doctor or a dermatologist (a doctor who specializes in skin problems).

General symptoms:


Red, itchy rash


Abdominal pain


Shortness of breath

Wheezing (trouble breathing)

Psychological changes (for example, irritability and inability to concentrate)

Urticaria pigmentosa:

Tan or red-brown spots on the skin

Abdominal pain





Increased heart rate

Facial flushing (reddening of the face)

Psychological changes (for example, irritability and inability to concentrate)

Solitary mastocytoma:

Raised or flat reddish-brown spot on the skin



Diffuse erythrodermic mastocytosis:

Thickening of the skin


Telangiectasia macularis eruptiva perstans:

Small lesions that do not itch

Systemic mastocytosis:

Skin lesions

Urticaria pigmentosa

Facial flushing





Abdominal pain

Ulcers in the stomach and duodenum (small intestine)



Heart palpitations (an irregular or unusually rapid beating of the heart)

Bone pain

Anemia (low red blood cell count, which can cause fatigue)

Psychological changes (for example, irritability and inability to concentrate)

Symptoms of systemic mastocytosis can sometimes occur as “attacks,” where more than one symptom appears at the same time. Following an attack, the person may feel tired and lethargic (drowsy, lacking energy).

Your doctor will ask you questions about the symptoms you are experiencing to help find out the cause of the problem, called a diagnosis. This may include how long you've been experiencing the symptom(s) and how often.

If mastocytosis is diagnosed, relieving symptoms and side effects remains an important part of your care and treatment. This may also be called symptom management, palliative care, or supportive care. Be sure to talk with your health care team about symptoms you experience, including any new symptoms or a change in symptoms.

Risk Factors

risk factor is anything that increases a person's chance of developing a disease. Although risk factors often influence the development of mastocytosis, most do not directly cause the disorder. Some people with several risk factors never develop the mastocytosis, while others with no known risk factors do. However, knowing your risk factors and talking about them with your doctor may help you make more informed lifestyle and health care choices.

The following factors may raise a person's risk of developing mastocytosis:

Age. Most often, cutaneous mastocytosis begins during infancy and early childhood. The risk of developing mastocytosis also increases during middle age.

C-kit receptor mutation. The c-kit receptor is a protein on the surface of some cells that binds to stem cell factor (a substance that causes certain types of cells to grow). A mutation of c-kit may cause some types of mastocytosis.


Doctors use many tests to diagnose a disease and find out its extent. Some tests may also determine which treatments may be the most effective. A biopsy is the only way to make a definitive diagnosis of mastocytosis. If a biopsy is not possible, the doctor may suggest other tests that will help make a diagnosis. Imaging tests may be used to find out more about the disease. Your doctor may consider these factors when choosing a diagnostic test:

Age and medical condition

Type of disease suspected

Severity of symptoms

Previous test results

In addition to a physical examination, the following tests may be used to diagnose mastocytosis:

Blood/urine tests. Tests are done on samples of the patient's blood and urine that may be able to find high levels of mast cells and histamine. Blood tests can also show how well the liver, kidneys, and other vital organs are working. The blood's level of tryptase (an enzyme) may be higher for people with systemic mastocytosis, which may help identify systemic mastocytosis from similar disorders.

Biopsy. A biopsy is the removal of a small amount of tissue for examination under a microscope. Other tests can suggest that mastocytosis is present, but only a biopsy can make a definite diagnosis. The sample removed from the biopsy is analyzed by a pathologist (a doctor who specializes in interpreting laboratory tests and evaluating cells, tissues, and organs to diagnose disease). Skin biopsies are often used to diagnose mastocytosis.

Bone marrow aspiration and biopsy. A sample of the bone marrow helps to diagnose systemic mastocytosis. Bone marrow aspiration and biopsy are similar procedures and are often done at the same time. Bone marrow has both a solid and a liquid part. A bone marrow biopsy is the removal of a small amount of solid tissue using a needle. An aspiration removes a sample of fluid with a needle. The sample(s) are then analyzed by a pathologist. A common site for a bone marrow biopsy and aspiration is the pelvic bone, which is located in the lower back by the hip. The skin in that area is usually numbed with medication beforehand, and other types of anesthesia (medication to block the awareness of pain) may be used.

Molecular testing. Your doctor may recommend running laboratory tests on the mast cells to identify specific genes, proteins, and other factors unique to the mastocytosis. Results of these tests will help decide whether your treatment options include a type of treatment called targeted therapy.


Staging is a way of describing where the disease is located, if or where it has spread, and whether it is affecting the functions of other organs in the body. Doctors use diagnostic tests to determine the disease's stage, so staging may not be complete until all the tests are finished. Knowing the stage helps the doctor to decide what kind of treatment is best and can help predict a patient's prognosis (chance of recovery).

There is no standard staging system for mastocytosis. Doctors will review several factors, including the type of mastocytosis, to learn more about the disease and plan treatment.

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