Background. Toxic epidermal necrolysis (TEN) is significant public health issue as it is associated with high mortality. 
Clinical case description. The authors have described the case of TEN in a boy with Dravet syndrome. Data on TEN course and real prevalence in children around the world is limited due to its rare incidence. 
Conclusion. Successful experience in TEN management has been presented.

Background. Fibrodysplasia ossificans progressiva (FOP) — is an extremely rare genetic disorder with an autosomal dominant type of inheritance. FOP is associated with a genetically determined disorder caused by the presence of a specific mutation in the ACVR1/ALK2 gene encoding the bone morphogenetic protein receptor. FOP is clinically manifested by the unrestrained formation of heterotopic ossifications, leading to a gradual progression of disability up to complete immobility of the patient. At an early age, the disease can be recognized by the presence of characteristic phenotypic stigmas, mainly the characteristic malformation of the thumbs, confirming the diagnosis by molecular genetic analysis. Early diagnosis of FOP avoids unnecessary iatrogenic manipulations and slows down the progression of the disease. Up until recently, there was no therapy that had a pathogenetic effect, preventing the development of ossifications. The first and only drug that has proven its effectiveness as a result of clinical trials and is registered for use in patients with FOP in a number of countries is palovarotene.

Case reports: The publication presents the first Russian experience of using palovarotene with a description of two clinical observations of patients with a genetically confirmed diagnosis of FOP. The clinical picture, the difficult path to diagnosis, and the encouraging experience of treating patients, including anti-inflammatory therapy using Janus kinase inhibitors (tofacitinib) and pathogenetic therapy with palovarotene, are described.

Conclusion. The aggressive nature of the course of FOP, which inevitably leads to severe disability of patients, necessitates the widespread attention of practitioners to the early diagnosis of FOP, an in-depth study of the factors determining progression, and new opportunities for pathogenetic therapy allow us to count on improving the prognosis of this extremely serious disease.

Background. X-linked dominant hypophosphatemic rickets (X-linked hypophosphatemia, XLH) is a disease caused by mutations in the PHEX gene (located at the Xp22.1 locus), which encodes an enzyme bound to the cell surface that cleaves the protein phosphate-regulating neutral endopeptidase PHEX, predominantly expressed in osteoblasts, osteocytes and teeth. This is a rare genetic disease that has difficulties in early diagnosis, in which a multidisciplinary approach is important. Currently, a new targeted therapy has been developed, showing the first results. This article presents a case of familial X-linked hypophosphatemia.
Case Report. Twin girls, premature babies, with low birth weight, having complications during the newborn period. There was low growth, late teething, delayed speech development, and varus deformity of the lower extremities in past medical history. A biochemical blood test showed an increase in the level of alkaline phosphatase, hypophosphatemia, and a decrease in the level of tubular phosphorus reabsorption. The characteristic signs of rickets were recorded on the X-rays. Phosphorous buffer preparations, the active form of vitamin D, were used in the treatment. The analysis of 166 genes responsible for bone pathology was carried out using high-performance parallel sequencing using the target panel “Hereditary diseases of the skeleton”, and a mutation in the PHEX gene was identified. At the age of 4 years and 8 months, a clinical diagnosis was established: X-linked dominant hypophosphatemic rickets. Heterozygous mutation c.1568+1G>A in the PHEX gene. Somatic stunting. Taking into account the O-shaped deformity of the legs, the girls underwent corrective osteotomy on the left tibia. At 6.5 years of age, haemiepiphysiodesis. At the age of 8, pathogenetic treatment with the preparation of monoclonal antibodies to fibroblast growth factor-23 — Burosumab, unregistered in the territory of the Russian Federation, was started. The dynamics of growth and laboratory data on the background of treatment is positive. 
Conclusion. Timely diagnosis of rare forms of rickets-like diseases is important to improve the quality of life of patients.

Background. Idiopathic Thrombocytopenic Purpura is one of the most common acquired blood-clotting disorders in adolescents. This disease is characterized by an increased risk of developing concomitant gynecological pathologies, such as abnormal uterine bleeding, ovarian tumors and tumor-like masses, external genital endometriosis, which requires careful medical supervision and, if necessary, surgical intervention. 
Case report. A clinical event of a 14-year-old patient with idiopathic thrombocytopenic purpura complicated by external genital endometriosis and abnormal uterine bleeding is being considered. The patient underwent surgery in the amount of laparoscopic oophorectomy, which prevented the development of severe complications. 
Conclusion. This case gives accent to the importance of a comprehensive and interdisciplinary approach to the treatment of patients with idiopathic thrombocytopenic purpura and concomitant gynecological pathologies, which helps minimize the risk of life-threatening complications.

Consumption of dietary supplements in childhood has increased significantly over the past decades. The most common dietary supplements are multivitamin-mineral complexes. Commonly parents make the decision to give dietary supplements without any pediatrician consultation, despite the presence of certain indications. The major reasons to use dietary supplements in children are protection against infections, accelerated growth, and unbalanced nutrition. Uncontrolled implementation of such supplements can lead to various adverse reactions. Promotion of healthy diet among children is crucial aspect of maintaining the children health. It should be noted that dietary supplements are not necessary for healthy children with diverse diet, and their excessive uncontrolled consumption can even do harm. At the same time, there are target groups of children whose diets can be enriched with dietary supplements. Among them are adolescent athletes who, with increased physical exertion, are recommended to consume protein dietary supplements, vitamin supplements are indicated in situations of poor nutritional quality, restrictive diets, pregnancy, the risk of vitamin deficiency, vegetarians and vegans need to make up for micronutrient deficiencies.

Walnuts are major component of Mediterranean and Asian diets and are increasingly used in different diets around the world due to their confirmed nutritional and health benefits. Walnuts’ components are abundant with omega-3 polyunsaturated fatty acids, essential amino acids, vitamins, polyphenols, phytosterols, and other nutrients and biologically active compounds with antioxidant, anti-inflammatory and immunomodulating properties. Walnuts currently have demonstrated promising effect in inflammatory bowel diseases management. This study presents key mechanisms underlying walnuts’ therapeutic potential in inflammatory bowel diseases management, such as modulation of intestinal mucosa permeability, inflammatory processes regulation, oxidative stress reduction, and gut microbiota composition correction.

varying degrees of risk of life-threatening conditions. Today, the problem of diagnosis and clinical interpretation of EIM in newborns is particularly acute due to anatomical and physiological features and comorbid conditions, as well as in children and adolescents with organic heart diseases. Studying the heterogeneity of electrocardiographic (ECG) morphology of cardiac cycles may have prognostic value for the prevention of arrhythmic events. The article provides an overview of modern scientific data on the signs of EIM in children, including the newborn period, formed into two large groups: depolarization and repolarization disorders. ECG criteria for EIM in children of different ages with congenital (primary) electrical diseases and acquired conditions, including COVID-19, are discussed. The methods of medical correction of ENM in newborns and children in subsequent age periods are highlighted. The totality of the data presented dictates the need for further study of the prognostic significance of EIM and methods of its correction.

The use of amniotic fluid as a source of stem cells is of great interest in cosmetology, genetics, obstetrics, neonatology and other areas of medicine. The relatively easy method of cell culture expands and reduces the cost of their use, but their indiscriminate use is fraught with the risk of developing malignant neoplasms due to the lack of control over the differentiation of multipotent cells in the patient’s body. The relatively easy method of cell culture expands and reduces the cost of their use, but their indiscriminate use is fraught with the risk of developing malignant neoplasms due to the lack of control over the differentiation of multipotent cells in the patient’s body. But even cell-free amniotic fluid is rich in a variety of cytokines that promote enterocyte protection against the effects of pro-inflammatory immune response factors and hypoxia, as well as optimal water-electrolyte composition. An analog of cell-free amniotic fluid, which includes tissue growth factors, can be a means of additional protection of the epithelium of the gastrointestinal tract, help inhibit the development of necrotic enterocolitis in reversible stages, which can reduce the number of surgical interventions in newborns and positively affect the healing of damaged epithelium at the site of intestinal wounds. The aim of this study was to find scientific evidence for this hypothesis.

Urinary tract infections in children are among the most common bacterial infections in pediatric practice. The article discusses in detail their clinical manifestations, diagnostic criteria, including laboratory and instrumental research methods, as well as treatment strategies, including the choice of antibacterial therapy and the duration of treatment. Special attention is paid to the prevention of recurrence of urinary tract infections. These clinical guidelines are based on the latest scientific research and international standards, which makes them an important tool for pediatricians and other medical professionals involved in the treatment of children with this pathology. The application of these guidelines in practice helps to improve the quality of medical care and reduce the risk of complications associated with urinary tract infections.