• Wednesday April 8,2020


Mastocytosis is a rare disease in which a morbid accumulation of so-called mast cells (defense cells) occurs. These can accumulate increasingly in the skin or in the internal organs. Most mastocytosis is harmless; but in some cases it can also be aggressive or vicious.

What is mastocytosis?

The term mastocytosis is understood by physicians to be a very rare disease. In this case, there is an increased and finally diseased accumulation of mast cells.

These are involved in the immune defense and pour out, for example, messengers such as histamine. In an increased accumulation of mast cells, it comes through this to a kind of allergic reaction to certain triggers. Basically, there are two types of mastocytosis: Cutaneous mastocytosis exclusively affects the skin, while systemic mastocytosis affects internal organs or tissues.

Mastocytosis can be completely symptom-free or, in more severe cases, severely restrict the daily lives of those affected. Often it comes by certain triggers such as food or other diseases to outbreaks. The exact causes of mastocytosis are not yet known.


Why it comes in some people to mastocytosis, has not yet been clearly clarified. In many adult patients, however, scientific research has identified a gene change that may be related to the development of mastocytosis.

This is a mutation of the growth receptor KIT, which is located on the mast cells. This mutation leads to an uncontrolled growth of the cells and subsequently to a mastocytosis.

In children with mastocytosis, no such change could be detected. It is a mutation that has no influence on the actual germ cell and is thus only rarely transmitted by heredity.

Symptoms, complaints & signs

Mastocytosis can cause very different symptoms and symptoms. Some patients have few symptoms, while others have serious symptoms. Which symptoms appear in detail depends on where in the body they occur and how much the mast cells are increased. The symptoms of mastocytosis can range from fatigue and skin irritation to stomach pain, nausea and vomiting.

Typically, the symptoms appear on the skin surface. Then brown-red spots form on the trunk, thighs and buttocks. The spots can reach a diameter of three millimeters to a few centimeters, with adults usually small spots and children usually large spots occur. If the spots are touched, an unpleasant itching will occur at the affected area.

In the course develop wheals, which multiply and cause a reddish rash. The lesions occur in all forms of mastocytosis and often regress spontaneously. Other discomforts include weight loss, shortness of breath, fever and hot flashes that occur at the advanced stage of the condition and need to be treated.

 In severe cases, a circulatory collapse can occur. The symptoms usually occur in stressful situations, for example under stress or after the consumption of alcohol or large meals. 

Diagnosis & History

Mastocytosis (in the cutaneous form of the disease) may in some cases be diagnosed by typical red-brown skin lesions.

However, a precise diagnosis often causes problems for the attending physician because the condition does not always manifest itself through such typical symptoms. A tissue sample of the skin and possibly also of the bone marrow can provide information about the presence of mastocytosis. In a comprehensive blood test, an increased tryptase value indicates mastocytosis. It is a protein that is present in the mast cells and whose level increases when there is an increased occurrence of the same.

The course of a mastocytosis largely depends on the individual expression in the individual case. Only rarely is a significant reduction in the quality of life expected.


Due to mastocytosis, those affected primarily suffer from skin complaints. It comes thereby to relatively strong redness and to pigment disturbances, whereby also pigment spots can occur. It is not uncommon for mastocytosis to result in reduced self-esteem or inferiority complexes, as those affected feel uncomfortable or ashamed of their appearance.

Likewise, swelling or blisters on the affected skin and swelling papillae continue to develop. Patients also suffer from vomiting or nausea. It also causes discomfort in the stomach or diarrhea and it can form a stomach ulcer. In the further course occurs a strong fall of the blood pressure, whereby it can come also to a consciousness loss.

The quality of life is significantly reduced and limited by the symptoms and symptoms of mastocytosis. As a rule, the complaints can be well restricted and controlled with the help of medication. Complications do not occur. However, the underlying disease itself must be treated and treated so that the symptoms do not occur in the twitch. Whether it leads to a reduced life expectancy can not generally be predicted universally.

When should you go to the doctor?

If symptoms such as a diffuse sense of illness or a reduced sense of well-being occur, it is advisable to see a doctor to clarify the symptoms. If you have a stomach ache, digestive problems, nausea or vomiting, a doctor is needed. If it comes to an increased tiredness, a quick exhaustion or fatigue, a doctor's visit should be made. The present irregularities indicate a health impairment and should be clarified in medical tests. Changes in the appearance of the skin, the formation of wheals or swelling are warning signs of the organism. They should be examined and treated. Stains on the skin or discoloration should be discussed with a doctor.

If existing complaints gradually increase or spread continuously, a visit to a doctor is needed. Persistent itching, flushing or increased body temperature should also be reported to a doctor. If the person suffering from respiratory distress or respiratory failure, there is cause for concern. Sleep disorders, internal weakness and a decline in usual performance are further signs of an existing disorder in the organism. If there are irregularities in the heart rhythm, anxiety caused by respiratory disorders or a decrease in concentration, a doctor should be consulted. In the event of a collapse of the circuit, an emergency medical service must be called immediately and first-aid measures initiated.

Treatment & Therapy

The treatment of mastocytosis usually involves alleviation of the individual symptoms and, if the respective triggers are known, an avoidance of the same.

The therapy may include, for example, the administration of certain medications, such as antihistamines, such as those used in allergies, or cortisone-containing preparations. Especially occurring itching and similar symptoms can be alleviated in this way. Painkillers can be taken if necessary.

If the exact cause of the allergy-like symptoms is known, they should be avoided in any case. These may include, for example, alcohol, spicy food, certain foods or insecticides. Nevertheless, mastocytosis patients should always carry an emergency kit containing medications that must be administered in the event of a severe reaction to a trigger.

Even if a mastocytosis is often harmless and almost unnoticed or can be treated well by a targeted therapy, the disease is not curable.

Outlook & Forecast

The cure prospects depend on when the mastocytosis occurred. In principle, forms of illness can be distinguished in children and adults. For children, one can formulate a good prognosis. The complaints usually disappear after the second and third year of life. Afterwards, those affected can continue to live a life without signs. Only in rare cases a chronic form develops. This means that the characteristic complaints are then permanent.

In adults, mastocytosis occurs for the first time in puberty. This results in a much worse prognosis. Because in the majority of diseases, the typical skin spots and other complaints remain a lifetime. They can even increase slightly. An improvement including a cure, there is only about every tenth patient. Sometimes adult patients manage to relieve symptoms by avoiding certain triggers.

Many sufferers find the burden of mastocytosis to be low. Since the disease is rarely malignant, there is usually no shortened life expectancy. Even without treatment, the symptoms disappear in the larger number of children. Adults, on the other hand, have to live with signs of mastocytosis.


Since the exact causes of mastocytosis are not yet known, prevention in the true sense is not possible. However, if there is already a disease or symptoms that indicate it, regular visits to the doctor should take place to monitor the health of the person concerned. A healthy lifestyle and avoidance of individual triggers can help to stem the disease and significantly reduce symptoms.

You can do that yourself

There is no effective therapy for mastocytosis. Therefore, for those affected to live as low as possible symptom. This is achieved with the help of a symptom-oriented therapy and by avoiding individual triggers.

Foods and agents that promote the products of mastell cytokines and thus cause the symptoms should therefore be avoided. A low-histamine diet includes the avoidance of certain foods and drinks. What foods are tolerated, is individually different and is best held with the help of a nutrition plan. In addition, some guiding principles apply. For example, foods that are stored longer generally contain more histamine. Cooking, freezing, baking or roasting destroys the material. Even home-cooked food is compatible. Alcohol should be avoided, because beer, wine and Co. inhibit the histamine-degrading enzyme.

Furthermore, there should always be an emergency kit at hand, because even without recognizable triggers anaphylactoid reaction can occur. Such an emergency kit contains antihistamines, glucocorticoid, and an adrenaline auto-injector, depending on the causes and severity of the condition. Which means should be included in detail must always be clarified with the responsible doctor.

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