Concentration of 25(OH)D in blood serum and certain aspects of the clinical course of juvenile scleroderma

Purpose — to assess the vitamin D supply in children and adolescents with systemic juvenile scleroderma (JS), taking into account its onset and clinical course at different periods of the child's development. Materials and methods. 14 children of 1 year 3 months —17 years old with systemic JS and 10 healthy children of the control group were examined. The concentration of 25(OH)D was determined in blood serum using commercial kits Vitamin D3 — Screeningkit, Switzerland, according to the manufacturer's instructions. Results. All patients with systemic JS showed a decrease in serum 25(OH)D levels — (24.55±9.32) ng/ml, compared to healthy children — (39.98±3.11) ng/ml. The lowest concentrations of the circulating form of vitamin D in the blood serum were in patients with limited form of systemic JS with Parry–Romberg hemiatrophy and «saber strike» — (14.07±3.38) ng/ml, as well as with the onset of generalized rapidly progressive JS in children at puberty — (16.31±4.6) ng/ml. Conclusions. Children with JS are shown to assess their vitamin D status by monitoring the serum concentration of 25(OH)D in order to decide whether to prescribe vitamin D supplements. The research was carried out in accordance with the principles of the Helsinki declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: children, juvenile scleroderma, vitamin D.

Fibrosing arthropathy in juvenile scleroderma

The group of scleroderma diseases includes a number of clinical entities, the main symptom of which is skin tightening. Scleroderma is a prominent example of these diseases, characterized by excessive synthesis and deposition of collagen in organs and tissues. A patient with juvenile systemic scleroderma with induration of the skin and underlying tissues, and persistent contractures of large joints since childhood, is described. This clinical example illustrates disease course peculiarities and differential diagnosis of systemic and limited (focal) scleroderma and scleroderma-like conditions in pediatric patients. The feasibility of pathogenetic therapy aimed at improving patient's the quality of life with formed disease phenotype is shown.

Features of dental care for children with juvenile scleroderma

This article reflects clinical trials, follow-up and the results of dental care for more than 20 years to children with juvenile scleroderma (JSD). We developed an algorithm for providing dental care to children with JSD, which consisted of successive stages: elimination of acute inflammatory phenomena in the maxillofacial area; elimination of chronic odontogenous pockets; oral sanitization; local anti-fibrin, anti-sclerotic therapy and preventive measures. The principles developed and used by us dental care for children with JSD according to our observations significantly reduced the risk of exacerbation of the underlying disease and the joining of secondary infection.

Conventional Radiography and Ultrasound Imaging of Rheumatic Diseases Affecting the Pediatric Population

Juvenile idiopathic arthritis is the most frequent rheumatic disease in the pediatric population, followed by systemic lupus erythematosus, juvenile scleroderma syndromes, juvenile dermatomyositis, chronic recurrent multifocal osteomyelitis, and juvenile vasculopathies. The imaging approach to inflammatory connective tissue diseases in childhood has not changed dramatically over the last decade, with radiographs still the leading method for bony pathology assessment, disease monitoring, and evaluation of growth disturbances. Ultrasonography is commonly used for early detection of alterations within the intra- and periarticular soft tissues, assessing their advancement and also disease monitoring. It offers several advantages in young patients including nonionizing radiation exposure, short examination time, and high resolution, allowing a detailed evaluation of the musculoskeletal system for the features of arthritis, tenosynovitis, enthesitis, bursitis, myositis, as well as pathologies of the skin, subdermis, vessels, and fasciae. In this pictorial essay we discuss radiographic and ultrasound inflammatory features of autoimmune pediatric inflammatory arthropathies: juvenile idiopathic arthritis, lupus erythematosus, juvenile scleroderma, juvenile dermatomyositis and polymyositis.

Ultrasonography, MRI and classic radiography of skin and MSK involvement in juvenile scleroderma

Scleroderma is a rare, autoimmune, chronic condition that affects the connective tissue by excessive collagen production. If diagnosed before the age of 16, it is referred to as juvenile scleroderma. There are two major types of the condition: localized and generalized scleroderma. Localized scleroderma has a much higher incidence than the generalized type which is extremely rare among children and affects mostly adults. In either case, imaging can prove to be useful in both the diagnosis and monitoring of the disease. In this article, we aim to review the imaging findings that can be present in juvenile scleroderma, focusing on ultrasonography, magnetic resonance imaging, and classic radiography. Ultrasound provides high-resolution images in real-time dynamic examination. With high-frequency transducers, it may provide a considerable input into the imaging of skin and musculoskeletal involvement. Several findings might be present when using B-mode or Doppler modalities such as thickening and hypervascularization of the cutis and subcutaneous tissue, synovitis and tenosynovitis, as well as small calcifications. Magnetic resonance imaging is also useful to evaluate inflammatory skin infiltration or skin atrophy, as well as deeply located structures, including fasciae, muscles and joints that might not be seen on ultrasonography. This modality is, however, expensive and time-consuming, and might require sedition in children. Classic radiology can show soft tissue calcifications, acroosteolysis, contractures, and subluxations. Computed tomography, which requires a high dose of radiation, is generally avoided in children, except in very specific cases.

A case of Myhre syndrome mimicking juvenile scleroderma

Background Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. Skin thickening and joint contractures are often the main presenting features of the disease and may be mistaken for juvenile scleroderma. Case presentation We report a case of a 13 year-old female presenting with widespread skin thickening and joint contractures from infancy. She was diagnosed with diffuse cutaneous systemic sclerosis, and treatment with corticosteroids and subcutaneous methotrexate recommended. There was however disease progression prompting genetic testing. This identified a rare heterozygous pathogenic variant c.1499 T > C (p.Ile500Thr) in the SMAD4 gene, suggesting a diagnosis of Myhre syndrome. Securing a molecular diagnosis in this case allowed the cessation of immunosuppression, thus reducing the burden of unnecessary and potentially harmful treatment, and allowing genetic counselling. Conclusion Myhre Syndrome is a rare genetic mimic of scleroderma that should be considered alongside several other monogenic diseases presenting with pathological fibrosis from early in life. We highlight this case to provide an overview of these genetic mimics of scleroderma, and highlight the molecular pathways that can lead to pathological fibrosis. This may provide clues to the pathogenesis of sporadic juvenile scleroderma, and could suggest novel therapeutic targets.

Clinical and X-ray diagnostic criteria for maxillofacial damage in children with juvenile limited scleroderma

The objective of our study was to improve the diagnosis of maxillofacial lesions in children with juvenile scleroderma. We performed a dental examination of 41 children from 4 to 17 years old with juvenile scleroderma. Based on the clinical X-ray examination we identified the main diagnostic signs of the maxillofacial damage in children with juvenile scleroderma, including partial hemiatrophy, plaque or linear facial lesions, reduced salivation, atrophic glossitis, plaque spots of mucous tongue atrophy, ischemia or shortening of the sublingual bridle, local recession of the gums of the lower jaw, dystopia and tooth supraposition, disocclusion, delay teething, spontaneous resorption of the permanent teeth roots, one-sided delay in the development of jaw bones. Using this complex of symptoms a dentist at the first visit can pre-diagnose scleroderma, which is especially important for the selection of adequate methods of treatment and prevention.

The state of the digestive system in children with systemic connective tissue diseases

Purpose. To study the prevalence of the digestive system pathology in children with systemic connective tissue diseases.Characteristics of children and research methods. We carried out a clinical and instrumental examination of 108 children with systemic connective tissue diseases hospitalized in the rheumatology department of the 4th City Children’s Clinical Hospital in Minsk from 2008 to 2015. 60 patients suffered from juvenile idiopathic arthritis (mean age 12.3 [9.4; 15.6] years), 23 children suffered from juvenile scleroderma (mean age 11.8 [9.7; 14.9] years) and 25 children suffered from systemic lupus erythematosus (mean age 13.1 [12.2; 16.3] years). All patients received long-term immunosuppressive and anti-inflammatory therapy.Results. 75.9% patients had gastroenterological complaints, such as abdominal pains, nausea, heartburn. 69.4% of patients had endoscopic changes in the esophagus, stomach, and/or duodenum. According to the results of the morphological study, 43.5% of patients with systemic connective tissue diseases had mild inflammatory process, 29.6% of patients had average inflammatory process, and 3.7% of patients had severe inflammatory process. Among the children examined, 33 (55%) patients with juvenile idiopathic arthritis, 12 (48%) children with systemic lupus erythematosus and 11 (47.8%) patients with juvenile scleroderma were infected with Helicobacter pylori. Pathological changes of the hepatobiliary system and pancreas were diagnosed in 83.3% of children with systemic connective tissue diseases.Conclusion. The revealed changes indicate a probable connection between the pathology of the digestive organs in children with systemic connective tissue diseases and substantiate the gastroenterological examination of this category of patients.