Symptoms of juvenile systemic scleroderma

Juvenile systemic scleroderma has a number of features:

• Skin syndrome is often represented by atypical variants (focal or linear lesions, hemiforms);
• the defeat of internal organs and Raynaud's syndrome are less common than in adults, are less clinically pronounced;
• specific for systemic scleroderma immunologic markers (antitope isomerase AT- Scl-70, and anti- centromeric antibodies) are detected less frequently.

Common symptoms of juvenile system scleroderma

In the onset of systemic scleroderma, patients can continue to observe isolated Raynaud's syndrome. They note a loss of body weight, weakness, a decrease in exercise tolerance. An acute onset of the disease is characterized by an increase in body temperature, in some patients - a high fever.

Skin lesion

Skin syndrome is observed in almost all patients. He plays a leading role in accurate diagnosis.

There are 3 stages of skin lesions.

• Stage edema - the appearance on the skin of the sites of vascular stasis, spots with a characteristic lilac whisk on the periphery. Depending on the intensity of swelling, the skin can take a different color - from white to cyanotic pink.
• The stage of induration is thickening of the skin with a dough-like consistency, the skin is tightly welded to the underlying tissues, it is not going to fold. The color becomes white-yellow, waxy, can acquire the color of ivory.
• The stage of sclerosis and atrophy - initially the skin becomes dense and thickened, has a characteristic luster, a yellowish color; disturbed the work of sebaceous and sweat glands. The appendages of the skin are affected: hair loss, hair follicles atrophy, dystrophy of the nails develop. Later the skin becomes thinner, acquires parchment appearance, becomes unevenly colored, dry. Through the thinning skin, the subcutaneous vessels appear, forming a peculiar vascular pattern. In places of the bony projections the skin is ulcerated, gross trophic disorders develop, cracks with secondary infection.

Depending on the prevalence and nature of the lesion, several variants of the skin syndrome are identified with systemic scleroderma in children.

• Systemic scleroderma with diffuse skin lesions is a rapid total indurative lesion of the skin. When the skin of the trunk is injured, the children may have a feeling of "corset" or "armor", in some cases, restricting the excursion of the chest.
• In the acrosclerotic variant of systemic scleroderma, the distal parts of the limbs (hands, less often the feet) are primarily affected. Fingers due to edema and induration become dense and difficult to squeeze into a fist (sclerodactyly), contractures are formed, the brushes look like a "clawed paw". Characterized by Raynaud's syndrome with violation trophic end phalanx of fingers and toes, the development of digital hem and prenecrosis in 1/3 of patients. Typical scleroderma changes in the facial skin lead to the loss of eyelashes, eyebrows, face masks appear, hypomymia; thinning ears, nose ("bird's nose"), lips, it is difficult to open the mouth around which wrinkles form ("pussy" mouth).
• The proximal form of systemic scleroderma is a lesion of the skin of the trunk and proximal limbs above the metacarpal and metatarsal joints.
• Hemi-scleroderma is the defeat of one limb and one-sided lesion of the trunk and the limbs of the same name, sometimes with the spread of the affected area to the skin of the neck and half of the face. Deep trophic disturbances in the area of injury are often the reason for the decrease in the size of the limb and the disruption of its growth, leading to disability of the child.
• Atypical form of systemic scleroderma is a scabbed or focal lesion of the skin.

Teleangiectasias (local dilations of capillaries and small vessels, often reminiscent of asterisks) are characteristic of systemic scleroderma with limited skin lesions, they are found in 80% of patients in the late stages of the disease.

The acrosclerotic variant of systemic scleroderma is characterized by the formation of small calcinates in soft tissues, especially in periarticular regions (fingers, elbows and knee joints, etc.) that are subject to traumatization. Subcutaneous calcification was called the Tibierje-Weissenbach syndrome. Calcium (C) in combination with Reynaud (R) syndrome, esophageal motility disorder (E), sclerodactyly (S) and telangiectasias (T) is peculiar to the special form of systemic scleroderma - CREST syndrome.

Raynaud's syndrome

It is observed in 75% of patients with juvenile systemic scleroderma and is a phenomenon of a three-phase change in the color of the skin of the fingers, less often of the hands and feet (in some cases, the tip of the nose, lips, tip of the tongue, auricles) due to symmetrical paroxysmal vasospasm. In the first phase there is a blanching of the skin, a feeling of cooling or numbness; in the second phase cyanosis develops, and in the third - reddening of the fingers with a feeling of heat, "crawling crawling," painful.

With a long-lasting Raynaud's syndrome, fibrosis grows, there is a decrease in the volume of terminal phalanges of the fingers, there may be ulcers at their tips followed by scarring, and in some cases - development of gangrene.

Rarely with juvenile systemic scleroderma, there is a "systemic Raynaud's syndrome" caused by spasm of the arteries of the internal organs (heart, lungs, kidneys, gastrointestinal tract), the brain, the organ of vision, etc. Clinically, it manifests itself as a rise in blood pressure, violation of coronary blood flow, headaches, sudden disruption vision and hearing.

Affection of the musculoskeletal system

The musculoskeletal system suffers in 50-70% of patients with juvenile systemic scleroderma, in most cases a symmetrical polyarticular lesion is characteristic. Children complain of pain in the joints, a sense of "crunching", an increasing restriction of movements in the small joints of the hands (sometimes stop), as well as wrist, elbow, ankle and knee joints. Often, violations of gait, difficulty in self-service, writing are developed.

Initially, moderate exudative joint changes are noted. The most characteristic pseudoarthritis is a change in the configuration of the joints and the formation of contractures due to the fibrotic sclerotic process in periarticular tissues.

Due to trophic disorders, the development of osteolysis of the nail phalanges of the fingers with their shortening and deformation is possible. Develops sclerodactyly - tightening of the skin and underlying tissues of the fingers, thinning and shortening of the terminal phalanges of the hands, less often of the legs.

In the case of localization of the sclerodermic focus on the face and head as a "saber blow", pronounced bone deformities of the facial skull with deformation and bone thinning, hemiatrophy of the dentoalveolar apparatus with the development of gross functional and cosmetic defects are formed.

In the initial period, moderate myalgia is noted in an average of 30% of patients. In some cases, polymyositis (mainly proximal muscles) develops with a moderate decrease in muscle strength, pain in palpation, increased CK, changes in EMG. Sometimes muscle atrophy develops.

Lesion of the gastrointestinal tract

It is observed in 40-80% of patients, manifested by difficulty in swallowing food, dyspeptic disorders, loss of body weight.

Most often in the early stages of the disease, the esophagus is involved in the process. Observe the violation of the passage of food through the esophagus, which can be accompanied by pain, belching, the need to drink large quantities of liquid. When radiographing the esophagus with barium, hypotension of the esophagus is revealed with its widening in the upper parts and narrowing in the lower third, motor damage with delayed passage of the barium suspension, with esophagogastroduodenoscopy (EHDS), diagnose gastroesophageal reflux and signs of esophagitis sometimes with the formation of erosions and ulcers.

When the stomach and intestines are affected, the digestion and absorption of food is disrupted. Patients report pain in the abdomen, nausea, vomiting, flatulence, diarrhea, or constipation.

Lesion of the lungs

The basis of pulmonary pathology - interstitial lung lesions (diffuse alveolar, interstitial and peribronchial fibrosis), develops in 28-40% of patients with juvenile systemic scleroderma. Thickening of alveolar walls, reduction of their elasticity, rupture of alveolar septa leads to the formation of cystlike cavities and foci of bullous emphysema. Fibrosis first develops in the basal regions, then becomes diffuse, a "honeycomb lung" is formed (Figure 28-2, see color insert). The specificity of pneumofibrosis is vascular lesion with the development of pulmonary hypertension (secondary pulmonary hypertension), however, the formation of pulmonary hypertension is possible in the absence of pneumosclerosis (primary pulmonary hypertension). In children, pulmonary hypertension is rare, in only 7% of patients, and is considered an unfavorable prognostic sign.

Dry cough, shortness of breath with physical activity indicate lung damage. Often, clinical manifestations of the pulmonary process are absent, changes are detected only with instrumental examination. The functions of external respiration are disturbed before the appearance of radiographic signs. The vital capacity of lungs and diffusion capacity decrease, in the late stage - violations of a restrictive type. In lung radiography, symmetrical reinforcement and deformation of the lung pattern, bilateral mesh or linear-nodular shadows, most pronounced in the basal areas of the lungs, and sometimes a general "murky" background, are noted. Of great importance for assessing the lung condition is CT with a high resolution, which allows you to detect the initial changes in the lungs, a symptom of "frosted glass."

Heart Attack

It occurs in children not often, at the initial stages of the disease in 8% of patients, increasing with increasing duration of the disease. The changes are related to fibrosis of the myocardium, endocardium and pericardium. The defeat of the myocardium is mainly of scleroderma cardiosclerosis. Changes from the endocardium in the form of fibroplastic endocarditis with the outcome of valvular sclerosis in children are rare, endocarditis usually has a superficial character. It is possible to develop dry fibrinous pericarditis, which, with instrumental examination, is manifested by thickening of the pericardium, pleuropericardial spikes.

In the initial stage of the lesion, patients with echocardiography are diagnosed with edema, densification and fuzziness of myocardial structures, in later periods - signs of cardiosclerosis in the form of progressive rhythm and conduction disorders, a decrease in myocardial contractility. Sometimes heart failure is formed.

Renal damage

Kidneys with systemic scleroderma are rarely affected in children. Chronic scleroderma nephropathy is detected in 5% of patients. It is characterized by trace proteinuria or minimal urinary syndrome. Sometimes jade-like changes are noted, accompanied by impaired renal function and increased blood pressure.

The true "scleroderma kidney" (scleroderma renal crisis) occurs in less than 1% of patients. Clinically manifested by the rapid growth of proteinuria, malignant arterial hypertension and rapidly progressive renal failure as a result of the defeat of interlobular and small cortical arterioles with the development of ischemic necrosis.

The defeat of the nervous system

The defeat of the nervous system is observed in children rarely in the form of peripheral polyneuric syndrome, trigeminal neuropathy. Localization of the focus of scleroderma on the head ("saber blow") can be accompanied by convulsive syndrome, hemiplegic migraine, focal changes in the brain.

[1], [2], [3], [4]