A retrospective study contains clinical and immunological characteristics of juvenile systemic scleroderma manifestations in 78 children according to data from a single rheumatology center. The average age of onset was 8.3 years, girls outnumbered boys, the form with diffuse skin involvement was more common, and among visceral involvement, the gastrointestinal tract and lungs were the most commonly affected; antinuclear factor was detected in 81% of children, anticentromere antibodies in 31%, and antitopoisomerase antibodies in 8.5%. The 5-year survival rate of patients in the main group was 100%, and the probability of survival at 74 months was 70%. Our data largely coincide with the studies of other authors. No obvious natural pathomorphosis of juvenile systemic scleroderma has been established in the 2000s compared to 1960–1980; therapeutic pathomorphosis of the disease is likely to occur. Key words: pathomorphosis, age of onset, visceral involvement, autoantibodies, survival

Hyperglycemia is a well-known side effect of glucocorticoid (GC) therapy. GC treatment can lead to steroid diabetes mellitus (DM) manifestation. Glycemic control is essential for patients receiving GC. Three clinical cases of carbohydrate metabolism impairment (hyperglycemia) in children receiving GC needing glycemic control were described. In the 1^st case transient fasting hyperglycemia up to 8.3 mmol/l (while normal data after meals) was detected during 3 days after start of GC pulse-therapy of bronchial asthma. Normalization of glycaemia was evident since the 4^th day in spite of GC therapy continuing for 6 days. In the 2^nd case transient hyperglycemia while pulse-therapy of juvenile arthritis with systemic onset was detected on the 3^rd day (7.25 mmol/l), GC in tablets was added, pulse-therapy with gradually dose reduction continued 9 days else. Hyperglycemia (up to 11.7 mmol/l) persisted for 4 days, then glycaemia normalization was detected in spite of continuing GC therapy (50 mg or 0.7 mg/kg). In the 3rd case steroid DM in a patient with juvenile systemic scleroderma, familial history of DM type 2, and obesity manifested after 2 months of treatment with GC tablets (35 mg or 0.6 mg/kg), metformin was prescribed. While reduction of GC dose trend to glycaemia normalization was seen. In 4 months after cessation of GC impaired glucose tolerance and insulin resistance were diagnosed.Glycemic control is essential for patients receiving GC. Hyperglycemia while receiving GC can be both transient or persistent. Risk of steroid DM is higher in cases of family history of DM type 2, obesity, high doses, and prolonged GC treatment. In patients at-risk of DM type 2 impairment of carbohydrate metabolism can persist after cessation of GC; this needs repeated examination.

Juvenile scleroderma (JS), comprising localized (JLSd) and systemic (JSSc) forms, is a rare autoimmune disorder. This study investigated associations of polymorphisms in extracellular matrix (MMP1, MMP9) and vascular homeostasis (NOS3) genes with JS risk and immunological phenotypes. A case–control study involved 215JS patients (194 JLSd, 21 JSSc) and 72 controls. SNPs (MMP1 rs1799750, MMP9 rs3918242, NOS3 rs1799983) were genotyped using real-time PCR followed by minisequencing and mass spectrometric analysis of reaction products. Associations with disease risk, subtypes, and immunological markers were analyzed statistically. The MMP9 (rs3918242) CT genotype was significantly associated with JLSd (OR = 2.23, 95% CI: 1.14–4.37, p = 0.022), showing a trend in linear facial forms. The NOS3 (rs1799983) GG genotype demonstrated a trend toward association with JSSc (OR = 2.61, 95% CI: 0.92–7.37, p = 0.065). No significant associations were found for rs1799750 MMP1 and risk of disease development. The MMP9 risk genotype did not correlate with scleroderma-specific autoantibodies, while the NOS3 GG genotype was associated with lower serum levels of anti-collagen IV antibodies (p = 0.039). Genetic associations differ for JS subtypes: MMP9 with JLSd and NOS3 with JSSc. Children with CT polymorphism MMP9 (rs3918242) and with NOS3 (rs1799983) GG genotype were found to be genetically predisposed for the development of JS.

Background. Mild forms of mucopolysaccharidosis type I (MPS I), Hurler – Scheie and Scheie syndromes, are characterized by late onset and non-specific symptoms. Particularly, the clinically dominant joint may lead to misdiagnosis of rheumatic disease. Case description. Girl S., at the age of 4 years 8 months, has shown limitation in hands' joints movements. Later at the age of 5 years and 1 month symmetrical polyarthritis with damage of large and small joints of upper and lower limbs with contractures was revealed; antinuclear factor was 1 : 160; and juvenile idiopathic arthritis was diagnosed. Then at the age of 5 years 2 months diagnosis has changed to limited form of juvenile systemic scleroderma due to additional symptoms onset: induration and elasticity decrease of hands, forearms, feet and lower legs skin, restriction of mouth opening, gastrointestinal tract lesions (cardia insufficiency, gastroesophageal reflux). Management with antirheumatic therapy (methylprednisolone, methotrexate) resulted in decreased skin density and increased amplitude of joints movements. Clinical features and disease course forced us to continue the diagnostic search. Enzyme diagnostics was performed: decrease in alpha-iduronidase activity to 0.06 μmol/L (normal range 1.00–25.00 μmol/L) was revealed. Quantitative analysis of glycosaminoglycans (GAG) in urine was performed: total GAG level was 20.0 mg/mmol creatinine (age limit 0.8–24.9 mg/mmol creatinine). One-dimensional GAG electrophoresis has revealed increased heparan sulfate and dermatan sulfate urinary excretion. Direct automatic sequencing of exons 2 and 7 of the IDUA gene revealed pathogenic variant c.208C>T (pGin70Term), from the father, and change in the nucleotide sequence c.878_889dup leading to the replacement of p.Thr293_Tyr2, from mother, in compound heterozygous state. The diagnosis of “MPS I, Sheie syndrome” was established. Conclusion. Pediatricians and pediatric rheumatologists should include molecular genetic methods in the examination protocols for the timely detection of hereditary diseases, particularly mild forms of MPS I, when conducting differential diagnosis in patients with specific articular changes.