Mastocytosis - a disease of the blood system, which is characterized by massive formation of special cells - mast cells, basophils or tissue mast cells. These cells are themselves impregnated skin and various internal organs.
Causes
Mastocytosis occurs in two forms - cutaneous and systemic.
Cutaneous mastocytosis occur mainly in children are rare, there is no difference in the defeat of the girls and boys. Most often, children suffer up to 2 years, the majority of cases, the disease spontaneously passes to adolescence.
However, there is also the adult form - systemic mastocytosis, it is more severe and has no tendency to self-elimination.
The exact causes of systemic mastocytosis and its formation mechanisms are still unknown, theorizes about the defeat of certain chromosomes with the transfer of this type of disease autosomal dominant manner. However, half of the patients have no family history.
forms of mastocytosis
Based on the clinical features of the disease and the age of initiation of release forms of the disease:
- Infant cutaneous mastocytosis with an average age of injury - up to 2 years old, the symptoms gradually disappear, there is no transformation in the system process.
- Solitary (single) mastocytoma: formation of lesions, bounded by several zones (nodes).
- Cutaneous mastocytosis adolescents or adults: with her frequent system failures, but they will not be progress. However, full recovery also takes place.
- The cutaneous form, similar to the previous, but with the possibility of transition to systemic mastocytosis, which affects internal organs.
- Systemic form of visceral.
- Malignant form of mastocytosis mast cell leukemia. This is particularly severe with poor prognosis and rapid currents.
Photo: site of the Department of dermatology Tomsk Military Medical Institute
Cutaneous manifestations
In this form of injury affects mainly the skin. The major symptoms include
- itchy skin,
- redness of the skin,
- bouts of palpitations,
- reducing the pressure,
- periodic temperature rises.
It displays output from mast cells of special substances - histamine and its analogues.
Mastocytosis is characterized by five main types of skin lesions.
1. Maculo-papular appearance. Thus there are numerous red-brown spots with a strong pigmentation. When conducting special tests friction (Darier Unna-test), they take the form of red bumps.
2. Nodular type - the appearance of skin within multiple nodes globular size up to 1 cm thick consistency red, pink or yellow. Nodes smooth surface, the sample Darrieus-Unna negative. Nodes may coalesce into plaques.
3. Formation of mast cells - isolated nodes size of 2 to 5 cm, smooth or wrinkled in the "orange peel" rubber consistency. It can occur up to 3-4 knots on the neck, trunk, arms. Test Darier Unna-positive, while injury of node surface thereon bubbles may occur or pustules, tingling. In the reverse of the development of the skin over them sinks and winces.
4. Eritrodermicheskoy or diffuse form - a large itchy lesions brown-yellow in the underarms or buttock crease. They are irregularly shaped with sharp edges, dense to the touch. The surface due to friction may ulcerate, scratches and cracks occur. As the progression of lesions crawl, and the skin becomes thick, the consistency of the dough, its color from pink to dark brown. Test Darya-Unna sharply positive, and minor injuries foci give blistering, and itching. Gradually the process regresses.
5. Teleagioektaziynaya form mainly occurs in women and appears reddish-brown spots, consisting of clusters of dilated subcutaneous vessels. These spots of varying shapes and sizes, arranged on the basis of strongly pigmented skin. At the point of friction blisters occur, it affects mainly the chest and limbs can itch and distribution process on the bone.
Manifestations of systemic mastocytosis
If systemic mastocytosis internal organs are saturated fat cells along with skin lesions or without him.
In this case, the affected organs appear specific disturbances related to their work. Most often affects:
- liver, with its increase, seal and fibrotic sites (liver tissues are replaced by connective tissue)
- skeletal system, with the education sector osteoporosis (Softening of the bones) and osteosclerosis (bone replacement on the connective tissue), bone pain,
- lymph nodes, with their increase and morbidity,
- digestive tract, with diarrhea and ulcerative lesions,
- spleen, with its sharp increase,
- bone marrow with its changes and replacement of normal cells in the mast cells or from bone marrow to the formation of leukemia,
- nervous tissue.
Diagnostics
Diagnostic Base - a detection and clinical manifestations in skin tissues and a large number of mast cells.
First, examine the blood by detecting it shifts the formula, a large number of mast cells and their metabolic products (histamine and tryptase).
Carry skin biopsy, organ and bone marrow with the definition of the abundance of mast cells, and determine the type of anomaly (especially tumor).
Performed chromosome analysis with the definition of the anomalies associated especially with 11 and 20 chromosomes, at least 5, and 7th.
In addition, X-rays of bones carried with the definition of the level of cell damage and densistometriya MRI and bone.
For the diagnosis of disorders of internal organs performed ultrasound and CT, especially the liver or spleen. With the defeat of the digestive tract is necessary to conduct endoscopic diagnostic methods.
mastocytosis treatment
Diseases are internists and hematologists.
Specific therapies have not yet been developed, symptomatic therapy is used, the bulk production of biologically active substances by mast cells:
- antihistamines - suprastin, tavegil, zodak and analogues.
- membrane stabilizers for mast cells - sodium nedocromil, ketotifen.
- there is evidence of the activity of interferon-alpha, but it is a method under development.
Used as cyclosporine and methylprednisolone in small doses.
But while the effectiveness of treatment is low.
Application of PUVA therapy shown in severe or mastocytosis with resistance to anti-allergic agents. PUVA therapy helps to reduce the rash. Recommended 25 sessions of 3-5 J / cm2 (per session), then the observed improvement.
Removal of the spleen shown in diffuse systemic mastocytosis.
Projections at mastocytosis determined form of the disease and the extent of organ involvement.
When cutaneous form, it is favorable, with the systemic form can be different, and in mast cell leukemia - is extremely poor.
