Mastocytosis may present with fainting and severe rash

The term mastocytosis refers to a broad group of diseases of the blood system, which are caused by the massive formation of mast cells (mastocytes) and their accumulation when they permeate tissues and organs. Mastocytosis often has symptoms similar to an intestinal infection or a neurological disease, but some forms can be dangerous, while early diagnosis and treatment can help prevent complications.

  Mastocytosis exists in two forms – skin and systemic, the reasons for their development are not exactly known, family predisposition has not been confirmed. Cutaneous mastocytosis occurs, as a rule, in children, begins early and most often resolves spontaneously by adolescence. Systemic mastocytosis affects adults, does not resolve itself, is severe and sometimes has a poor prognosis.

 Forms of manifestation of mastocytosis and main symptoms

There are six different subtypes of mastocytosis: urticaria pigmentosa, mastocytoma, diffuse cutaneous mastocytosis, persistent telangiectasia, systemic mastocytosis, and mast cell leukemia.

The most common form of mastocytosis – urticaria pigmentosa. Infantile mastocytosis occurs before the age of two years and gradually passes by itself, without transforming into a systemic process. Solitary mastocytomas limit the area of ​​the lesion to several areas on the skin. Cutaneous mastocytosis can develop in both adolescents and adults, with it often there are systemic lesions that do not progress, but do not go away on their own. Systemic mastocytosis affects the internal organs, and mast cell leukemia develops quickly and has a very poor prognosis.

Characteristic symptoms of cutaneous forms of mastocytosis

With this form of skin lesions, the main symptoms of mastocytosis are itching and redness of the skin, palpitations, low blood pressure and occasional fever. They may be due to the release of histamine from mast cells.

Main types of skin lesions:

Maculo-pustular: many red-brown, highly pigmented spots on the skin.

Nodular: dense, globular nodules under the skin, up to 1 cm in size, red or yellowish.

Mastocytomas: large single nodes 2-5 cm on the neck, forearms, torso, reminiscent of rubber in texture, when injured, the surface becomes covered with bubbles.

Erythroderma: large yellow-brown spots of irregular shape with clear outlines, dense, when injured, they can crack and ulcerate. They are located in the armpits, they itch a lot, they can spread and regress on their own.

Telangiectasias: red-brown spots of various shapes and sizes, consisting of an accumulation of subcutaneous vessels on sharply pigmented skin, are located on the chest and  limbs, sometimes itchy.

Typical manifestations of systemic forms of mastocytosis

In systemic mastocytosis, the skin is not necessarily affected, but internal organs are impregnated with mast cells, which has the following manifestations:

enlargement and thickening of the liver;

bone pain, osteoporosis;

swollen lymph nodes;

diarrhea, intestinal ulcer;

spleen enlargement.

Symptoms of systemic mastocytosis are itching of the skin and its sudden redness, especially on the face, nausea and headaches, fainting and bouts of abdominal pain. Symptoms may be aggravated by rubbing clothing or drinking alcohol. In such patients, insect bites can cause anaphylactic shock, and taking aspirin or contact with cold water – acute manifestation of urticaria.

 Treatment of mastocytosis and prognosis for the development of the disease

In the treatment of mastocytosis, symptomatic therapy is used: antihistamines  drugs, stabilizers of mast cell membranes. Systemic corticosteroids are recommended for severe skin rashes. PUVA therapy helps to relieve some rashes and reduce itching.

Prognosis for the development of the disease is determined by the severity of damage to internal organs. With the skin form of mastocytosis, it is favorable, with the systemic – may be different.