The clinical case of systemic scleroderma: integration of dermatological, pulmonological and gastroenterological aspects

Background. Diffuse cutaneous systemic sclerosis is a multisystem disease of connective tissue characterized by symmetrical thickening of the skin and subcutaneous tissue, combined with fibrous and degenerative changes in the synovial membrane of joints, digital arteries and internal organs (esophagus, intestines, heart, lungs, kidneys). The key factor in systemic scleroderma is a violation of microcirculation, covering the entire body on a global level. This deviation occurs due to excessive synthesis of antibodies in combination with intense reactions of cellular immunity, which leads to significant damage to the vascular endothelium, a fundamental stage in the development of pathology. Damage to the microcirculatory bed provokes the formation of microthrombi due to increased thrombotic activation and proliferation of the inner lining (intima) of small arteries, which causes vasoconstriction and the occurrence of local hypoxic conditions. In the long term, this leads to chronic insufficiency of blood supply to the affected organs. There is a tendency towards an increase in connective tissue diseases, including scleroderma. Thus, in the Russian Federation in 2021, the number of reported cases among adults amounted to 17,667.7 thousand people, which is an increase compared to 2020, when there were 17,360.5 thousand people. In 2022, this number increased to 18,864.1 thousand people. The primary incidence of systemic scleroderma in children is 0.27 per 1 million children per year. Among patients with systemic scleroderma, the proportion of children under the age of 10 does not exceed 2%, and among all patients aged 10 to 20 years varies from 1.2% to 9%. The average age of morbidity is 8.1 years, the peak of the disease is observed in the period from 10 to 16 years. Among the cases, girls account for a significantly higher number, the ratio with boys is 4:1.

Objective. The aim of the study was to present a clinical case of mixed systemic scleroderma in a 16-year-old teenager. Materials and methods. Patient R., born in 2008, was examined in June 2024 at the State Autonomous Healthcare Institution Regional Children's Clinical Hospital.

The child was examined using the clinical and genealogical method, functional research methods (ultrasound examination of the abdominal cavity and retroperitoneal space, ECHO-CS + Doppler, CT of the chest, EGDS), clinical and biochemical blood tests, ENA profile: RNP/Sm, Scl-70, ANF; coagulogram: APTT (APTT), the percentage of prothrombin by Quick, ferritin.

Conclusion. Systemic scleroderma in children is a complex and polysystemic disease that requires a deep understanding of its pathogenesis, clinical manifestations, and treatment approaches. To date, the urgency of the problem is confirmed by an increase in morbidity among both adults and children.

1. Russian Pediatricians' Union, "Clinical Recommendations for Systemic Sclerosis" 2017. Ministry of Health of the Russian Federation. 2017. With amendments and additions as of 2017. (In Russ.)

2. Herrick A. L. Raynaud's phenomenon. J Scleroderma Relat Dis. 2019; 4 (2): 89-101. DOI: 10.1177/2397198319826467.

3. Morbidity of the population by main classes, groups and individual diseases. C. M. Okladnikov, S. Yu. Nikitina, G. A. Alexandrova, R. R. Akhmetzyanova eds. In: Healthcare in Russia 2023: stat. coll. M.: Rosstat, 2023. P. 69-70. (In Russ.)

4. The state of health of children aged 0-14 years. C. M. Okladnikov, S. Yu. Nikitina, G. A. Alexandrova, R. R. Akhmetzyanova eds. In: Healthcare in Russia 2023: stat. coll. M.: Rosstat, 2023. P. 69-70. (In Russ.)

5. Alekperov R. T. Systemic scleroderma. Lvrach.ru. Medical scientific and practical portal. 2024. URL: lvrach.ru/2004/07/4531516. (In Russ.)

6. Guseva N. G. Systemic scleroderma and pseudoscleroderma syndromes. Moscow: Meditsina, 1993. Pp. 13-25. (In Russ.)

7. Guseva N. G. Systemic scleroderma: early diagnosis and prognosis. Nauchno-prakticheskaia revmatologiia. 2007; 1: 39-46. (In Russ.)

8. Ministry of Health of the Russian Federation. (In Russ.)