Mastocytosis
Mastocytosis is a systemic disease consisting in the reproduction and infiltration of the skin by mast cells. The internal organs of a person can also be affected, then mastocytosis is called systemic.
The content of the article:
Classification of mastocytosis
Symptoms of mastocytosis
Diagnosis of mastocytosis
Treatment of mastocytosis
Mastocytosis
The second name of mastocytosis is “mast cell leukemia”. The disease associated with the proliferation of mast cells is quite rare, and its causes and mechanism of development are not fully understood. Three quarters of cases of mastocytosis occur in young and infants. Every second case of the disease in a child passes during puberty.
Cutaneous mastocytosis is distinguished by five possible manifestations:
hyperpigmentation;
small knots;
large nodes;
erythrodermic foci;
telangiectasia.
A characteristic diagnostic sign of cutaneous mastocytosis is the Darye-Unna phenomenon.
Treatment of mastocytosis occurs with the use of chlorohydratacyproheptadine, serotonin inhibitors, cytostatics.
Classification of mastocytosis
Medicine distinguishes four clinical forms of the disease:
Cutaneous mastocytosis. It manifests itself during the first years of the baby’s life. Skin lesions that occur in a young child during the disease almost completely disappear during puberty. There are no lesions of internal organs. The rarest case is the transition of cutaneous mastocytosis to systemic.
Cutaneous mastocytosis in adults and adolescent children can affect not only the skin, but also internal organs, spreading the infiltration of mast cells to the kidneys, gastrointestinal tract, heart, liver, mucous membranes. The changes that have arisen in the patient’s body do not progress further, this is the difference from systemic mastocytosis. In rare cases, cutaneous mastocytosis in adults can turn into a systemic form.
Systemic mastocytosis. Its symptoms are usually manifested in adults. This is a progressive form of the disease affecting the internal organs. There are cases of exposure to the skin.
Malignant mastocytosis. Its causes are malignant degeneration of mast cells. It is this form of the disease that has received a second name — “mast cell leukemia”. Degenerated mast cells infiltrate human tissues and internal organs, which leads to death. Lesions of the skin in malignant mastocytosis are usually absent.
Symptoms of mastocytosis
Half of patients with diagnosed mastocytosis complain only of skin lesions. When internal organs are affected, symptoms include a periodic drop in blood pressure, paroxysmal redness of the skin, causing an itching sensation. Paroxysmal tachycardia is also a manifestation of the disease.
Infiltrates from mast cells characteristic of mastocytosis can be grouped in very different layers of the skin. Accordingly, there are several clinical variants of the symptoms of skin lesions in mastocytosis:
Maculopapular type of mastocytosis. It is characterized by multiple hyperpigmented areas appearing on the skin. In addition, there are lesions with a very clear contour. The phenomenon of Darya-Unna is clearly manifested: the friction of even a healthy area of the skin leads to the formation of bubbles and other changes similar to the manifestation of urticaria. Therefore, the maculopapular type of mastocytosis is also called pigmented urticaria.
Nodular type of mastocytosis. The symptoms of this type of disease are manifested in a variety of dense neoplasms, nodules, balls. The diameter of such a rash reaches up to one centimeter. The color of the nodules is yellow, red, crimson, pink. These neoplasms tend to merge, forming plaques with a smooth surface or a coating resembling an orange peel. Large plaques have a bumpy surface. In this type of disease, the Darya-Unna phenomenon is present, but manifests itself weakly.
Solitary type of mastocytosis. Symptoms include the formation of a single node with a diameter of up to five centimeters, which feels like rubber. The surface of such a node can be smooth or wrinkled. The solitary form of mastocytosis involves the formation of a single node, however, some clinical forms can be detected in three or four such neoplasms. Single nodes can be combined with maculopapular rash, and they develop only in the case of cutaneous mastocytosis. Nodes are localized on the trunk, neck, and forearms. If such a neoplasm is injured, then bubbles form on its surface, this is how the Darya-Unna phenomenon manifests itself. Nodes can disappear on their own without leaving traces.
Erythrodermic type of mastocytosis. It is characterized by yellow-brown lesions of the skin with uneven outlines and dense consistency, accompanied by severe itching. Over time, scratches, cracks, wounds, ulcers, and scratches appear on the surface of the affected areas of the skin. Most often, these rashes are concentrated in the crease between the buttocks and armpits. The Darye-Unna phenomenon manifests itself actively in the erythrodermic type of mastocytosis. Injury to the affected area of the skin entails the active formation of blisters and even more severe itching. If there are a lot of bubbles, then they state the presence of a bullous form of the disease. Erythrodermic mastocytosis can turn into erythroderma.
Telangiectatic type of mastocytosis. Symptoms of this form of the disease include skin lesions of brown and red shades. They are usually localized on the limbs and chest. This form of mastocytosis is most typical for women.
Diagnosis of mastocytosis
The dermatologist suspects the presence of mastocytosis in the patient after checking him for the manifestation of the Darya-Unna phenomenon. Confirmation of the diagnosis of mastocytosis includes the appointment of additional studies. A biopsy of skin elements is performed, the material is sent for histological examination. The sample is examined for clusters of mast cells and the nature of their grouping. If the upper layers of the dermis are infiltrated, then a maculopapular or telangiectatic type of mastocytosis is diagnosed. If the infiltrate affects not only one layer of the dermis, but extends to all, then this is a nodular type of mastocytosis. With infiltration of the skin and subcutaneous tissue, a solitary type of disease is diagnosed. Ribbon-like infiltrates are an eloquent characteristic of the erythrodermic variant of mastocytosis.
For its diagnosis, a clinical blood test is also used, the material is examined for the presence of an increase in the number of basophils and neutrophils with a sharp shift of the leukocyte formula to the left.
Mastocytosis lesion of the patient’s internal organs is diagnosed and examined using ultrasound techniques. The abdominal organs are checked, the presence or absence of enlargement of the patient’s spleen and liver is determined. X—rays and computed tomography can detect osteoporosis or osteosclerosis – disorders and problems in the bone tissue.
Differential diagnosis is carried out in order to separate mastocytosis from freckles, pigmented warts, xanthus. In infants, mastocytosis is differentiated with pemphigus, Rotmund-Thomson poikiloderma.
Mastocytosis is necessarily differentiated with those diseases whose symptoms also include an increase in mast cells and their infiltration. Such diseases are dermafibroma, lymphoma, hemangioma, lymphogranulomatosis.
Treatment of mastocytosis
Hematologists and therapists are engaged in the treatment of mastocytosis. Currently, there are no specific methods of therapy, but symptomatic therapy is used, aimed at suppressing the production of biologically active substances by mast cells. Antihistamines include zodac, tavegil, suprastin or their analogues, stabilizers of membranes on mast cells — nedokromil sodium, ketotifen. Methylprednisolone and cyclosporines are used in small doses.
Anti-inflammatory drugs, cytostatics, corticosteroids are also used in the treatment of mastocytosis. The treatment regimen and the range of use of the selected medications depend on the type of mastocytosis and its manifestations. However, the effectiveness of treatment is not yet high.
Individual neoplasms can be surgically removed.
The prognosis for the cutaneous form of mastocytosis is favorable, with the systemic form it can be different, and with mast cell leukemia it is extremely unfavorable.
