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);
• damage to internal organs and Raynaud's syndrome are less common than in adults and are clinically less pronounced;
• Immunological markers specific to systemic scleroderma (antitopoisomerase AT - Scl-70, and anticentromere antibodies) are detected less frequently.

Common symptoms of juvenile systemic scleroderma

At the onset of systemic scleroderma, isolated Raynaud's syndrome can be observed in patients for a long time. Weight loss, weakness, and decreased tolerance to physical activity are noted. The acute onset of the disease is characterized by an increase in body temperature, and in some patients, high fever.

Skin lesion

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

There are 3 stages of skin lesions.

• Edema stage - the appearance of areas of vascular stasis on the skin, spots with a characteristic purple halo on the periphery. Depending on the intensity of the edema, the skin can take on different colors - from white to bluish-pink.
• Induration stage - thickening of the skin with a doughy consistency, the skin is tightly fused with the underlying tissues, does not gather into a fold. The color becomes white-yellow, waxy, and may acquire the color of ivory.
• Sclerosis and atrophy stage - initially the skin becomes dense and thickened, has a characteristic shine, yellowish color; the sebaceous and sweat glands are disrupted. Skin appendages are affected: hair loss, atrophy of hair follicles, dystrophy of nails is noted. Later, the skin becomes thinner, acquires a parchment appearance, becomes unevenly colored, dry. Subcutaneous vessels shine through the thinned skin, forming a peculiar vascular pattern. In places of bone protrusions, the skin ulcerates, rough trophic disorders, cracks with secondary infection develop.

Depending on the prevalence and nature of the lesion, several variants of skin syndrome are distinguished in 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 affected, children may experience a sensation of a "corset" or "armor", in some cases limiting the excursion of the chest.
• In the acrosclerotic variant of systemic scleroderma, the distal parts of the extremities (hands, less often feet) are affected first. The fingers become dense due to swelling and induration and are difficult to clench into a fist (sclerodactyly), contractures are formed, the hands acquire the appearance of a "clawed paw". Raynaud's syndrome is characteristic with a violation of the trophism of the terminal phalanges of the fingers and toes, the development of digital scars and prenecrosis in 1/3 of patients. Typical scleroderma changes in the skin of the face lead to loss of eyelashes, eyebrows, mask-like appearance of the face, hypomimia; the auricles, nose ("bird's nose"), lips become thinner, opening the mouth is difficult, around which wrinkles are formed ("purse-string" mouth).
• The proximal form of systemic scleroderma is a lesion of the skin of the trunk and proximal parts of the extremities above the metacarpal and metatarsal joints.
• Hemiscleroderma - damage to one limb and unilateral damage to the trunk and the same limbs, sometimes with the spread of the affected area to the skin of the neck and half of the face. Deep trophic disorders in the affected area are often the cause of a decrease in the volume of the limb and its growth disorders, leading to disability of the child.
• Atypical form of systemic scleroderma - erased or focal skin lesions.

Telangiectasias (local dilation of capillaries and small vessels, often resembling spider veins) are characteristic of systemic scleroderma with limited skin lesions and 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 calcifications in soft tissues, especially often in periarticular areas (on the fingers, in the area of the elbow and knee joints, etc.), which are subject to trauma. Subcutaneous calcification is called the Thibierge-Weissenbach syndrome. Calcification (C) in combination with Raynaud's syndrome (R), esophageal motility disorder (E), sclerodactyly (S) and telangiectasia (T) is characteristic of a special form of systemic scleroderma - CREST syndrome.

Raynaud's syndrome

It is observed in 75% of patients with juvenile systemic scleroderma and is a three-phase phenomenon of skin color change of the fingers, less often of the hands and feet (in some cases of the tip of the nose, lips, tip of the tongue, auricles), caused by symmetrical paroxysmal vasospasm. In the first phase, the skin becomes pale, a feeling of coldness or numbness occurs; in the second phase, cyanosis develops, and in the third, reddening of the fingers with a feeling of heat, "crawling ants", and pain.

With long-term persistence of Raynaud's syndrome, fibrosis increases, a decrease in the volume of the terminal phalanges of the fingers is noted, ulcers may appear on their tips with subsequent scarring, and in some cases, gangrene develops.

Rarely, juvenile systemic scleroderma is accompanied by "systemic Raynaud's syndrome", caused by spasm of the arteries of the internal organs (heart, lungs, kidneys, gastrointestinal tract), brain, visual organ, etc. Clinically, it is manifested by increased blood pressure, impaired coronary blood flow, headaches, sudden visual and hearing impairment.

Musculoskeletal disorders

The musculoskeletal system suffers in 50-70% of patients with juvenile systemic scleroderma, in most cases symmetrical polyarticular lesions are typical. Children complain of joint pain, a "crunching" sensation, increasing limitation of movement in the small joints of the hands (sometimes feet), as well as wrist, elbow, ankle and knee joints. Gait disturbances, difficulties in self-care and writing often develop.

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

Due to trophic disorders, osteolysis of the nail phalanges of the fingers may develop with their shortening and deformation. Sclerodactyly develops - thickening of the skin and underlying tissues of the fingers, thinning and shortening of the terminal phalanges of the hands, less often the legs.

In the case of localization of the scleroderma lesion on the face and head according to the “sabre strike” type, pronounced bone deformations of the facial skull with recession and thinning of the bone, hemiatrophy of the dentoalveolar apparatus with the development of gross functional and cosmetic defects are formed.

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

Gastrointestinal tract damage

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

Most often, the esophagus is involved in the process in the early stages of the disease. Disturbances in the passage of food through the esophagus are observed, which may be accompanied by pain, belching, and the need to drink a large amount of liquid with food. X-ray examination of the esophagus with barium reveals hypotension of the esophagus with its expansion in the upper sections and narrowing in the lower third, impaired motility with delayed passage of barium suspension, and esophagogastroduodenoscopy (EGDS) diagnoses gastroesophageal reflux and signs of esophagitis, sometimes with the formation of erosions and ulcers.

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

Lung damage

The basis of pulmonary pathology is interstitial lung damage (diffuse alveolar, interstitial and peribronchial fibrosis), which develops in 28-40% of patients with juvenile systemic scleroderma. Thickening of the alveolar walls, decreased elasticity, rupture of the alveolar septa leads to the formation of cyst-like cavities and foci of bullous emphysema. Fibrosis first develops in the basal sections, then becomes diffuse, and a "honeycomb lung" is formed (Fig. 28-2, see color insert). A feature of pneumofibrosis is vascular damage 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, occurring in only 7% of patients, and is considered an unfavorable prognostic sign.

Dry cough, shortness of breath during physical exertion indicate lung damage. Often, clinical manifestations of the pulmonary process are absent, changes are detected only during instrumental examination. The functions of external respiration are impaired before the appearance of radiographic signs. The vital capacity of the lungs and diffusion capacity decrease, in the late stage - restrictive type disorders. Chest radiography reveals symmetrical enhancement and deformation of the pulmonary pattern, bilateral reticular or linear-nodular shadows, most pronounced in the basal areas of the lungs, sometimes a general "cloudy" background. High-resolution CT is of great importance for assessing the condition of the lungs, which allows detecting initial changes in the lungs, the "ground glass" symptom.

Heart failure

It is not common in children, at the initial stages of the disease in 8% of patients, increasing with increasing duration of the disease. Changes are associated with fibrosis of the myocardium, endocardium and pericardium. Myocardial damage is characterized mainly by scleroderma cardiosclerosis. Changes in the endocardium in the form of fibroplastic endocarditis with an outcome in valvular sclerosis in children are rare, endocarditis is usually superficial. Dry fibrinous pericarditis may develop, which is manifested by thickening of the pericardium and pleuropericardial adhesions during instrumental examination.

In the initial stage of the lesion, echocardiography reveals edema, compaction and blurring of myocardial structures in patients; at later stages, signs of cardiosclerosis in the form of progressive rhythm and conduction disturbances, and decreased myocardial contractility. Sometimes heart failure develops.

Kidney damage

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

True "scleroderma kidney" (scleroderma renal crisis) occurs in less than 1% of patients. Clinically, it is manifested by a rapid increase in proteinuria, malignant arterial hypertension and rapidly progressing renal failure as a result of damage to interlobular and small cortical arterioles with the development of ischemic necrosis.

Nervous system damage

Lesions of the nervous system are rarely observed in children in the form of peripheral polyneuritic syndrome, trigeminal neuropathy. Localization of a scleroderma lesion on the head ("sabre blow") may be accompanied by a convulsive syndrome, hemiplegic migraine, focal changes in the brain.

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