Mastocytosis

Introduction to mastocytosis Mastocytosis, also known as pigmented urticaria, cloning studies and mutational analysis indicate that at least some adult mast cell cases are due to mast cell tumor hyperplasia, while children with mast cell disease are cytokines-induced hyperplasia. . basic knowledge The proportion of illness: 0.001% Susceptible people: no special people Mode of infection: non-infectious Complications: diarrhea

Causes of mastocytosis

The cause of the disease is currently unknown, but it is recommended that you pay attention to personal life issues in your daily life.

Mast cell masturbation prevention

The prognosis is severe and can also die in infancy.

Complication of mastocytosis Complications, diarrhea

Common complications of this disease are peptic ulcers and chronic diarrhea.

Symptoms of mastocytosis common symptoms rash gangster diarrhea abdominal pain hypotension nausea nosebleed

Patients with systemic mastocytosis have joint pain, bone pain and allergic symptoms, and other symptoms caused by H 2 histamine receptors (increased gastric acid and mucus secretion), patients often have digestive ulcers and chronic diarrhea The problem is that tissue histology shows that histamine content is extremely high, consistent with the degree of mast cell aggregation. In systemic mastocytosis, the content of histamine and its metabolites in the urine is also high, and histamine in plasma can be elevated. The concentration of tryptase, heparin, and prostaglandin D2 (PGD2) increased.

About 1/2 of the patients develop the disease 6 months after birth, and 1/4 occur before puberty. Skin damage includes macules, papules, nodules, plaques, blisters or bullae, occasionally telangiectasia, Spot or freckle, similar to urticaria at the beginning, but does not subside, the skin lesions persist, and gradually become buckskin or slate color. When slashing or rubbing the skin, erythema and erythema around the wind group often occur (Darier sign).

The lesions are often slightly elevated, the nodules can be firm, emanate or fused to each other, and the surface has a pale brown waxy appearance. The skin of the patient is 1/3 to 1/2 of the normal skin scratches. Histamine-releasing agents such as alcohol, morphine or codeine or after extensive rubbing, severe symptoms such as itching, diffuse flushing, or even collapse, headache, bradycardia, hypotension, accompanied by severe histamine release Drowsiness, loss of appetite, diarrhea and joint pain.

The disease can be divided into the following types in clinical:

1. Isolated solitary mastocytoma has isolated nodules at birth or at the first week after birth, with dry papules or high round or oval plaques up to 20 mm in diameter, smooth or slightly braided (orange peel) Shape), edema, wheal, blisters and even bullae can be seen on the lesions. Sometimes there are several mast cell tumors. Most isolated mastoid tumors naturally resolve before the age of 10.

2. Children with generalized mastocytosis are usually seen in the first week after birth, which is characterized by rosy pruritic wheal-like mild pigmented macules, papules or nodules, and the lesions are oval or round in diameter 5~ 15mm small, etc., can be fused to each other, the color is yellowish to brownish red, and blister or bullae are often formed in the early stage of the disease. Usually, before puberty, the skin lesions will naturally subside in a few years, but there are also those who continue to adulthood. This disease may occur. Systemic damage, but it is extremely rare to have a malignant systemic disease.

3. Adult type of generalized mast cell hyperplasia with typical wheal of hazel papules and nodules is the most common, spread occurs in the whole body, especially the upper arm, calf and trunk.

4. Pseudo-neoplastic mast cell hyperplasia occurs when there are a large number of pale yellow nodules with a diameter of 1 ~ 2cm, splenomegaly, erythema instead of wheal when rubbing, and dense mast cell infiltration in histopathology.

5. Diffuse skin mast cell hyperplasia The whole skin is diffusely affected and thickened. Due to the infiltration of mast cells, the skin is very orange, and the skin is infiltrated with dough-like toughness.

6. The erythrodermic mastocytosis is a generalized erythroderma, the skin is a grain-like appearance with a grain-facing outer surface, and a wheal can be generated on the entire surface of the skin.

7. Persistence telangietasia macularis eruptiva perstans is a persistent pigmented asymptomatic plaque rash, dry reddish tone, telangiectasia is rare or inconspicuous, this type is benign, most The case is only a cosmetic problem, bone damage and peptic ulcer can occur, and there is no Darier disease.

8. Systemic mastocytosis Mast cell proliferation occurs not only in the skin, but also in the lymph nodes, gastrointestinal system, bones, heart, blood, liver and spleen. The disease is progressive or still, and the lesions are mostly knots. Type, bone damage is usually asymptomatic, X-ray examination shows radiolucent area and radioactive dense area, bone damage is usually static, rare non-progressive mast cell leukemia, gastrointestinal tract can show a characteristic mucosal coup, common abdominal pain, Nausea and vomiting, systemic mastocytosis usually occurs in adults, but about 10% of patients with disseminated disease in childhood have systemic involvement, but also can cause organ function due to secondary high eosinophilic syndrome Obstacles, mast cells release large amounts of histamine causing systemic reactions, including flushing, vomiting due to increased heparin in the plasma, nosebleeds, bloody stools and ecchymoses, anemia, leukopenia and thrombocytopenia, prothrombin time, 60% of patients with 24h urinary histamine increased, when a large number of mast cells infiltrated multiple organs to destroy normal function, malignant hypertrophy can occur The disease, rare cases can cause death visceral skin, extensive infiltration system can cause death.

9. Familial genital pigmentation is rare and is autosomal dominant.

According to the increase of pigmentation, wheal, artificial skin scratches and skin biopsy can confirm the diagnosis. X-ray, bone marrow examination and lymph node biopsy can help to determine the presence or absence of systemic lesions. The determination of urinary histamine is also available. Helps diagnosis, especially for system type people.

In addition, if you carefully observe the pathological changes of leukemia mastocytosis, it can be seen that the infiltrating cells are immature, the nucleus is large and polymorphic, and the mitotic image is visible at the same time, while the heterochromatic granules are less, which is helpful for the classification diagnosis.

The most reliable diagnostic method for this disease is to use Giemsa staining to show metachromatic granules in mast cells, damage to macula, mast cells resembling fibroblasts, and special attention should be paid to special staining to avoid missed diagnosis.

Examination of mastocytosis

Histopathological examination showed that histamine content was extremely high, consistent with the degree of mast cell aggregation. In systemic mastocytosis, the content of histamine and its metabolites in urine was also high, and histamine in plasma could be elevated. The concentration of trypsin, heparin and prostaglandin D2 (PGD2) increased. The histopathological manifestations of all skin lesions were mast cell infiltration, but the location and number were different. Mast cells were characterized by metachromatic granules in the cytoplasm, routine staining. The particles were not visible at the time, but when stained with Giemsa or toluidine blue, the particles were clearly visible.

Mast cells of mastocytosis: mast cells; neutrophils, others are young red blood cells and lymphocytes.

Diagnosis and differentiation of mastocytosis

The most reliable diagnostic method for this disease is to use Giemsa staining to show metachromatic granules in mast cells, damage to macula, mast cells resembling fibroblasts, and special attention should be paid to special staining to avoid missed diagnosis.

In the nodular or erythrodermic type, it is similar to the Langerhans cells seen in Letterer-Siwe disease or eosinophilic granuloma, and the three diseases are easily confused, but the disease does not invade the epidermis. This is different from the Lettere-Siwe disease. However, it is mainly based on the special staining and the combination of clinical manifestations and these diseases. It is more reliable. In addition, there are many diseases in the clinic that may be confused with pigmented urticaria. The pigmentation spots can be misdiagnosed as Pigmented sputum or freckles, and yellow tumors and juvenile yellow granuloma can be mixed with the pimples and nodular types of the disease, in addition to the identification of papular urticaria, sometimes the disease is mistaken for drug eruption, in the bullous type Blisters and bullous urticaria should be ruled out, and polymorphous erythema should be distinguished. Extensive bullous lesions should also consider the possibility of leukemia. Biopsy is more important at this time.

In acute attacks, especially those with a history of recurrent episodes, mast cell syndrome may occur after the release of histamine, which is similar to carcinoid syndrome.

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