Juvenile systemic scleroderma

Juvenile systemic scleroderma (synonym - progressive systemic sclerosis) is a chronic polysystemic disease from the group of systemic connective tissue diseases that develops before the age of 16 and is characterized by progressive fibrous-sclerotic changes in the skin, musculoskeletal system, internal organs and vasospastic reactions similar to Raynaud's syndrome.

ICD-10 codes

• M32.2. Drug- and chemical-induced systemic sclerosis.
• M34. Systemic sclerosis.
• M34.0. Progressive systemic sclerosis.
• M34.1. CREST syndrome.
• M34.8. Other forms of systemic sclerosis.
• M34.9. Systemic sclerosis, unspecified.

Epidemiology of juvenile systemic sclerosis

Juvenile systemic scleroderma is a rare disease. The primary incidence of juvenile systemic scleroderma is 0.05 per 100,000 population. The prevalence of systemic scleroderma in adults ranges from 19-75 cases per 100,000 population, the incidence is 0.45-1.4 per 100,000 population per year, while the proportion of children under 16 years of age among patients with systemic scleroderma is less than 3%, and children under 10 years of age - less than 2%.

Systemic scleroderma in children most often begins in preschool and primary school age. At the age of up to 8 years, systemic scleroderma occurs equally often in boys and girls, and among older children, girls predominate (3:1).

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

Etiology and pathogenesis of juvenile systemic scleroderma

The etiology of scleroderma has not been sufficiently studied. It is assumed that there is a complex combination of hypothetical and already known factors: genetic, infectious, chemical, including medicinal, which lead to the launch of a complex of autoimmune and fibrosis-forming processes, microcirculatory disorders.

Causes of Juvenile Systemic Scleroderma

[ 5 ], [ 6 ]

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 antibodies - Scl-70, and anticentromere antibodies) are detected less frequently.

Symptoms of Juvenile Systemic Scleroderma

Classification of juvenile systemic scleroderma

Juvenile systemic scleroderma, in which, along with widespread skin lesions, internal organs are involved in the process, should be distinguished from juvenile limited scleroderma, which is characterized by the development of sclerosis of the skin and underlying tissues without damage to blood vessels and internal organs, although these diseases are often combined under the general term “Juvenile scleroderma”.

There is no classification of juvenile systemic scleroderma, so the classification developed for adult patients is used.

[ 7 ]

Clinical forms of systemic scleroderma

• Prescleroderma. Can be diagnosed in a child with Raynaud's syndrome in the presence of specific antibodies - AT Scl-70, antibodies to the centromere (subsequently, in most cases, juvenile systemic scleroderma develops).
• Systemic scleroderma with diffuse skin lesions (diffuse form) is a rapidly progressing widespread lesion of the skin of the proximal and distal parts of the extremities, face, trunk and early lesions (within the first year) of internal organs, detection of antibodies to topoisomerase I (Scl-70).
• Systemic scleroderma with limited skin lesions (acrosclerotic form) - long-term isolated Raynaud's syndrome, which precedes limited skin lesions of the distal forearms and hands, shins and feet, late visceral changes, detection of antibodies to the centromere. A feature of juvenile systemic scleroderma is an atypical skin syndrome in the form of focal or linear (by hemitype) skin lesions, which is not a classic acrosclerotic variant.
• Scleroderma without scleroderma - visceral forms, in which the clinical picture is dominated by damage to internal organs and Raynaud's syndrome, and skin changes are minimal or absent.
• Cross forms - a combination of signs of systemic scleroderma and other systemic connective tissue diseases or juvenile rheumatoid arthritis.

The course of systemic scleroderma is acute, subacute and chronic.

Disease activity degrees: I - minimal, II - moderate and III - maximal. Determination of the degree of activity of systemic scleroderma is conditional and is based on clinical data - the severity of clinical symptoms, the prevalence of the lesion and the rate of disease progression.

Stages of systemic scleroderma:

• I - initial, 1-3 localizations of the disease are identified;
• II - generalization, reflects the systemic, polysyndromic nature of the disease;
• III - late (terminal), there is a failure of the function of one or more organs.

[ 8 ], [ 9 ], [ 10 ], [ 11 ]

Diagnosis of juvenile systemic scleroderma

For diagnosis, preliminary diagnostic criteria for juvenile systemic scleroderma developed by European rheumatologists have been proposed (Pediatric Rheumatology European Society, 2004). To establish a diagnosis, two major and at least one minor criterion are required.

Diagnosis of juvenile systemic scleroderma

Treatment of juvenile systemic scleroderma

Patients are prescribed physiotherapy, massage and exercise therapy, which help maintain the functional capabilities of the musculoskeletal system, strengthen muscles, expand the range of motion in the joints, and prevent the development of flexion contractures.

How is juvenile systemic scleroderma treated?

Prevention of juvenile systemic scleroderma

Primary prevention of juvenile systemic scleroderma has not been developed. Secondary prevention consists of preventing relapses of the disease and involves preventing excessive insolation and hypothermia, prohibiting contact of the patient's skin with various chemical reagents and dyes, protecting the skin from possible injuries and unnecessary injections. It is recommended to wear warm clothing, especially gloves and socks, avoid stressful situations, exposure to vibration, smoking, drinking coffee, and taking medications that cause vasospasm or increased blood viscosity. Preventive vaccinations should not be administered during the active period of the disease.

Forecast

The prognosis for life in children with systemic scleroderma is significantly more favorable than in adults. The mortality rate in children with systemic scleroderma under the age of 14 is only 0.04 per 1,000,000 population per year. The five-year survival rate of children with systemic scleroderma is 95%. The causes of death are progressive cardiopulmonary insufficiency, scleroderma renal crisis. The formation of pronounced cosmetic defects, disability of patients due to dysfunction of the musculoskeletal system and the development of visceral lesions are possible.

[ 12 ]