The Importance of the Skin Syndrome in the Primary Diagnosis of Connective Tissue Diseases in Children: Case Report

Background. Timely verification of the clinical diagnosis of connective tissue diseases in children based on the onset of the earliest symptoms, including skin manifestations, and timely initiation of treatment can prevent the development of irreversible complications, increase the life expectancy of patients and its quality.

The aim of the study. To analyze the nature of skin manifestations as a marker of the onset connective tissue disorders, such as systemic lupus erythematosus (SLE), localized scleroderma (morphea), juvenile dermatomyositis (JDM), juvenile polyarteritis nodosa (PAN), systemic juvenile idiopathic arthritis (SJIA), and the timing of the main clinical diagnosis from the moment of manifestation of connective tissue disorders. To clearly demonstrate the importance of skin syndrome in the timeliness of clinical diagnosis, a clinical case is presented.

Methods. Analysis of medical records and prospective observation of 47 patients aged up to 17 years 11 months with an established diagnosis of connective tissue diseases and the presence of skin syndrome at the onset of the disease.

Results. Among patients with SLE, only 20.0% of children had skin syndrome only in the form of butterfly rash, and other skin manifestations were noted in 80.0% of patients. The period from the onset of skin syndrome to diagnosis was 8.0 ± 2.1 months. In 57.2% of patients with morphea, skin syndrome was detected exclusively in the form of single or multiple elements, and in 42.8% there was a combination of a pathognomonic morphological element with alopecia and scleroderma. The average time to make a clinical diagnosis of morphea from the onset of the skin syndrome was 11.0 ± 1.9 months. In all patients with JDM, skin manifestations were characterized by polymorphism (papules and Gottron’s sign, heliotrope rash, palmar capillaritis, livedo reticularis, cheilitis). The diagnosis was made 14.0 ± 3.2 months from the onset of skin syndrome. In patients with documented PAN, skin manifestations debuted in the form of erythema, areas of necrosis, palmar capillaritis, livedo reticularis, and cheilitis. The period from the onset of skin syndrome to clinical diagnosis was 6.0 ± 2.4 months. Among patients with SJIA, skin syndrome was represented by a maculopapular rash associated with fever and its regression when body temperature normalized. The period until clinical diagnosis was made from the onset of the skin syndrome was 2.0 ± 1.1 months.

Conclusion. In most cases, the skin syndrome in patients at the onset of the disease was characterized by polymorphism and diversity of elements with the involvement of the vascular component. At the same time, the time from the debut of connective tissue disease in the form of the appearance of skin syndrome to the clinical diagnosis varied in the range from 2 to 14 months.

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