Mastocytosis is a disease of the blood system, which is characterized by the massive formation of specific cells – mast cells , tissue basophils or labrocytes. These cells saturate the skin and various internal organs.
Mastocytosis occurs in two forms – skin and systemic.
Skin forms of mastocytosis occur mainly in children and are rare, there are no differences in the lesions in girls and boys. Most often, children under 2 suffer, most cases of the disease spontaneously pass to adolescence.
However, there is also an adult form – systemic mastocytosis , it is more difficult and does not have a tendency to self-withdrawal.
The exact causes of the development of systemic mastocytosis and the mechanisms of its formation are still unknown, theories about the defeat of some chromosomes with the transfer of this type of disease autosomal dominant are being advanced. However, half of the patients do not have a familial predisposition.
Based on the clinical features, the course of the disease and the age of its onset, the forms of the disease are distinguished:
Infant skin form of mastocytosis : the average age of the lesion is up to 2 years, the symptoms gradually disappear, there is no transformation in the systemic process.
Solitary (single) mastocytoma : the formation of lesions, limited to several zones (nodes).
The cutaneous form of mastocytosis in adolescents or adults: systemic lesions are frequent with it, but they will not progress. However, there is no complete cure either.
The skin form is similar to the previous one, but with the possibility of transition to systemic mastocytosis, which affects the internal organs.
Systemic form with lesions of the internal organs.
Malignant form of mastocytosis in the form of fat cell leukemia. This is a particularly severe form with a poor prognosis and rapid course.
In this form, the lesions mainly affect the skin. The main symptoms are
- itchy skin
- skin redness
- heart attacks
- pressure reduction
- periodic temperature rises.
These are manifestations of the release of special substances from mast cells – histamine and its analogs.
Mastocytosis is characterized by five major types of skin lesions.
1. Maculo- papular manifestations. In this case, there are multiple red-brown specks with strong pigmentation. When conducting a special friction test (Darien – Unna test ), they take the form of red bumps.
2. Nodular type – the appearance inside the skin of multiple spherical nodes with sizes up to 1 cm, dense texture of red, pink or yellow color. The surface of the nodes is smooth, the Dare- Unna test is negative. Nodes can merge into plaques.
3. Formation by mastocytoma – single nodes ranging in size from 2 to 5 cm, smooth or shriveled in an orange peel, rubber consistency. You may experience up to 3-4 knots on the neck, torso, forearms. Darya- Unna’s test is positive, and if the node surface is injured, bubbles or pustules can appear on it, tingling. At their reverse development, the skin over them sinks and frowns.
4. The erythrodermic or diffuse form is large, itchy foci of brown-yellow color in the armpits or gluteal folds. They have an irregular shape with clear boundaries, dense to the touch. The surface due to friction may ulcerate, scratching and cracking occur. As the progression of the foci crawl, and the skin becomes dense, the consistency of the test, its color from pink to dark brown. Test Dare- Unna sharply positive, and minor injuries foci give blistering, and itching. Gradually the process regresses.
5. The teleagioctasis form mainly occurs in women and is manifested by red-brown spots consisting of a cluster of dilated subcutaneous vessels. These spots of various shapes and sizes are located on a sharply pigmented skin base. Blisters appear at the site of their friction, mainly affecting the chest and limbs, itching and spreading of the process to the bone is possible.
In systemic mastocytosis, the internal organs are saturated with mast cells in parallel with or without skin lesions.
At the same time in the affected organs manifest specific disorders associated with their work. Most commonly affected:
- the liver, with its increase, compaction and fibrous nodes (liver tissue is replaced by connective tissue),
- bone system, with the formation of areas of osteoporosis (softening of the bone) and osteosclerosis (replacement of the bone on the connective tissue), bone pain,
- lymph nodes, with their enlargement and tenderness,
- digestive tract, with diarrhea and ulcers,
- spleen, with its sharp increase,
- bone marrow with its changes and replacement of normal cells with mastocytes , or with damage to the bone marrow with the formation of leukemia,
- nerve tissue.
The basis of the diagnosis is the clinical manifestations and detection of a large number of mast cells in the tissues and skin.
First of all, they examine the blood, finding in it the shifts of the formula, a large number of fat cells and their metabolic products (histamine and tryptase ).
Conduct a biopsy of the skin, organs and bone marrow with the determination of the abundance of mast cells, determine the type and anomalies of their development (especially tumor).
Chromosomal analysis is carried out with the definition of anomalies associated especially with chromosome 11 and 20, rarely the 5th and 7th.
Additionally, an x-ray of the bones is carried out with determination of the level of cell damage, as well as densitometry and MRI of bone tissue.
To diagnose disorders of internal organs, ultrasound and CT are performed, especially for the liver or spleen. If the digestive tract is damaged, endoscopic diagnostic methods are necessary.
Therapists and hematologists are involved in the disease.
Specific methods of therapy has not yet been developed, symptomatic therapy is used, which suppresses mast cell production of biologically active substances:
antihistamines – suprastin, tavegil, zodak and analogues.
mast cell membrane stabilizers – nedocromil sodium, ketotifen.
there is evidence of alpha interferon activity, but the method is still under development.
Cyclosporins and methylprednisolone are also used in small doses.
But while the effectiveness of treatment is low.
The use of PUVA therapy is indicated for severe mastocytosis or for resistance to antiallergic drugs. PUVA therapy helps to reduce rash. 25 sessions of 3-5 J / cm2 (per session) are recommended, after which improvement is observed.
Spleen removal is indicated for diffuse systemic mastocytosis.
Projections for mastocytosis are determined by the form of the disease and the degree of organ damage.
In the case of the skin form, it is favorable, in the systemic form it can be different, and in the case of fat cell leukemia, it is extremely unfavorable.