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.
Netakimab is a humanized anti-interleukin-17A monoclonal antibody, it has marketing approval for treatment of adult patients with moderate-tosevere plaque psoriasis, psoriatic arthritis, and ankylosing spondylitis. This paper provides the results of the first 12-week period of phase III BCD-085-16/PLANETA-KIDS clinical study.Objective. The aim of the BCD-085-16/PLANETA-KIDS is to evaluate netakimab efficacy and safety in pediatric patients 6+ years old with moderate-to-severe plaque psoriasis.Methods. BCD-085-16/PLANETA-KIDS (NCT06640517) is a randomized, double-blind, placebo-controlled phase III clinical study with open-label active-comparator arm (adalimumab). A total of 155 male and female patients aged from 6 to 18 years with confirmed moderate-to-severe plaque psoriasis were randomized to receive netakimab (n = 83), placebo (n = 35), or adalimumab (n = 37). Netakimab dosage was weight adjusted: for patients weighing 50 kg or more netakimab dose was 120 mg (two injections of 60 mg/ml each), for patients weighing less than 50 kg netakimab dose was 60 mg (one injection of 60 mg/ml). Patients in the Netakimab group received netakimab subcutaneously once per week for the first three weeks (induction) and once every 4 weeks thereafter (maintenance). Patients in the Placebo group received placebo in blinded manner like netakimab. Adalimumab was administered in open-label way in doses recommended by the product’s SmPC. In this study co-primary efficacy endpoints were the proportion of patients achieving PASI75 and sPGA0/1 at week 12.Results. Netakimab has shown superiority over placebo for both co-primary endpoints. The proportion of patients achieving PASI75 at week 12 was 89.2% in the Netakimab group and 14.3% in the Placebo group, odds ratio (OR) 59.0, 95% CI [16.5; 211.5] (p < 0.0001). The proportion of patients achieving sPGA0/1 at week 12 was 83.1% in the Netakimab group and 8.6% in the Placebo group, OR 54.9, 95% CI [14.6; 206.5] (p < 0.0001). The subgroup analysis has shown consistent netakimab superiority over placebo for both co-primary endpoints, regardless of age, body weight and psoriasis severity. Throughout the 12-week period netakimab has shown favorable safety profile comparable to that in the Placebo group.Conclusion. The results of the 12-week period in the BCD-085-16/PLANETA-KIDS study have shown high efficacy of netakimab compared with placebo with favorable safety profile in children aged 6 years and older and adolescents with moderate-to-severe plaque psoriasis.
Background. Infantile hemispheric glioma (IHG) is a glial tumor (often large sized) that often develops in utero or during infancy. Timely diagnosis is challenging due to its rarity in young children and the variability of its molecular genetic characteristics. Implementation of preoperative and intraoperative neuroimaging allows to remove the most morphologically significant areas of tumor tissue when total resection is not possible, while cytogenetic analysis allows for a definitive diagnosis.Case description. The child with intrauterine growth retardation has grade 2 cerebral ischemia and movement disorders syndrome. Neurosonography at 13 days of age has revealed large cystic lesion that was not identified as a tumor. An increase in head circumference up to 7 cm was noted at the age of 2.5 months, while neurosonography has shown enlargement of the cystic cavity in the left hemisphere, thus ventriculoperitoneal shunting was performed. Magnetic resonance imaging of the brain has revealed a large cystic and solid lesion in the left hemisphere at the age of 8 months. We used combined neuronavigation to establish the diagnosis and determine treatment tactics: preoperative positron emission tomography with [18F]fluoroethyl-l-tyrosine combined with computed tomography and ultrasound and fluorescence guidance during the surgery. Tumor cytogenetic analysis was performed and confirmed the glial nature of the neoplasm.Conclusion. This case shows the complexity of IHG diagnosis and the benefits of preoperative and intraoperative neuronavigation, as well as cytogenetic testing, to establish the final diagnosis.
Background. Atypical hemolytic-uremic syndrome (aHUS) is an orphan chronic systemic disease resulting from uncontrolled activation of alternative complement pathway and development of complement mediated-thrombotic microangiopathy (TMA). Its diagnosis can be challenging even in cases with classic signs.Case description. This study describes clinical case of aHUS in 5 years old child. Disease diagnosis was associated with significant difficulties due to Coombs-positive hemolytic anemia. aHUS diagnosis was established based on recurrent course of TMA with a reduced level of complement C3 component and signs of multiple organ damage. Eculizumab administration led to rapid remission.Conclusion. aHUS course is progressive and has unfavorable prognosis with no pathogenetic therapy. Its timely diagnosis, mainly based on exclusion of other etiological factors of TMA, allows us to prescribe complement-blocking therapy. Such treatment prevents the development of multiple organ damage and promote stable remission along with supportive therapy.
Background. Congenital bladder diverticulosis is a rare urological abnormality (about 70 cases described). Other comorbid birth defects of neighboring organs and systems allows to diagnosis bladder diverticulum in early childhood. However, this disease remains unrecognized in many children until the development of urinary tract infection, incontinence, or acute urinary retention.Case description. A child, 1 year 9 months old, was diagnosed with large congenital (primary) Hutch diverticulum. The first diverticulum manifestation was acute urinary retention within 24 hours and anxiety. Moreover, the child had no comorbid malformations of organs and systems. There was no duplication of lower segments of gastrointestinal tract, reproductive system organs, or other urinary tract defects (renal dystopia, dysplasia). There were no signs of vesicoureteral reflux and no fistulas between gastrointestinal and urogenital systems. Video-assisted resection of double bladder segment was performed with favorable outcome.Conclusion. The latent disease course diagnosed after complication development (acute urinary retention) is described. Video-assisted diverticulum resection is an effective and safe treatment method even after delayed diagnosis of this congenital anomaly.
Background. Pulmonary arterial hypertension (PAH) is a severe, multifactorial, polygenic group of pulmonary-cardiac diseases. The probable causes of hereditary PAH, especially at onset in childhood, are TBX4 (T-box transcription factor 4) gene variants. There are no reports of PAH cases associated with pathogenic TBX4 variants in the Russian Federation.Case descriptions. 66 children with pulmonary hypertension (PH) of unknown etiology were examined in the Pediatric Cardiology Department of the Veltischev Institute during the period from 2020 to 2025. Pathogenic variants of genes associated with PAH development were revealed in 43 children via whole-genome sequencing. These genes were BMPR2, EIF2AK4, SOX17, SMAD9, ENG, GDF2, ALK1, KCNK3, and, moreover, there were 4 (9%) cases of TBX4 pathogenic variants (frameshift mutations, missense mutation, and one structural variant — microdeletion 17q23.1q23.2). All cases have shown persistent combination of features: 1) respiratory distress in neonatal period requiring long-term oxygen support, including the development of oxygen dependence, 2) early onset of pulmonary hypertension, 3) cardiovascular manifestations, 4) skeletal abnormalities, 5) psychomotor retardation. Three variants were accompanied by combination of parenchymal lung damage and broncho-obstructive syndrome; patient with microdeletion had chronic bronchitis. Follow-up has shown that specifically respiratory distress and concomitant respiratory failure determine the disease severity. Pulmonary hypertension onset worsens the clinical picture and prognosis. Pulmonary vasodilators efficacy in case of lung damage is limited.Conclusion. Pathogenic variants in the TBX4 gene lead to phenotype extending clinical manifestations of isolated hereditary PAH. This phenotype can be considered as a syndrome complex of impaired development, interstitial lung disease, manifested by respiratory distress in neonatal period, heart defects, precapillary pulmonary hypertension, skeletal anomalies, and neurodevelopmental disorders. Patients with TBX4 gene mutations require treatment by a multidisciplinary team of specialists. Such patients should be managed by interdisciplinary team of specialists in specialized medical center for patients with pulmonary hypertension.
Background. Congenital periorbital hemangioma is a rare benign tumor that can manifest in fetus as early as II–III trimester of pregnancy. Large tumors may aggravate differential diagnosis with other facial area tumors. Accurate prenatal diagnosis allows timely evaluate complications risks, prediction outcomes, and plan the delivery.Case description. Ultrasound examination of the fetus at 31 weeks of gestation has revealed a 29 29 mm round tumor with smooth clear contours, homogeneous structure, and moderate echogenicity in the right periorbital area. The tumor involved all parts of the orbit and extended to the facial structures. Color Doppler ultrasonography has revealed blood flow within the tumor in several small foci. The diagnosis of “Congenital periorbital hemangioma on the right” was confirmed by MRI. The male baby was born via vaginal delivery at 38th week of gestation, weight — 3800 g, height — 52 сm, APGAR score — 7/8. The lesion was noted in the right orbital area, rising above the eye, and causing its deformity. The eyelid was closed. The skin over the tumor was cyanotic, no vascular changes were detected. The baby was examined by neonatologist, ophthalmologist, pediatric oncologist, and dermatologist. Eye ultrasound as well as CT scan of the orbital region and brain were performed. The prenatal diagnosis was confirmed, the baby is currently under the care of domain specialists.Conclusion. In utero periorbital hemangioma in a child is defined (on ultrasound) as uniform structure of rounded shape, medium echogenicity, with presence of blood flow, it must be differentiated with lymphangioma, dermoid cyst, teratoma of the orbit, rhabdomyosarcoma, meningocele, or encephalocele. Magnetic resonance imaging is used to verify diagnosis.
Background. To manage maternal and child health services, it is essential to provide relevant data to the decision-making process. The Ministry of Health of the Russian Federation has developed a system of weekly analytical reports on infant mortality based on primary data from information systems, including distribution by regions, causes of death, dynamic series, and integral estimates. The monitoring results are used to implement management decisions that improve the medical care organization in maternal and child health, and to evaluate decision efficacy.Objective. The aim of the study is to develop a model for analyzing infant mortality to manage the work of obstetric, gynecological, and pediatric services based on primary data.Methods. Data source on registered deaths under the age of 1 year is the Federal Register of Medical Death Certificates of the Unified State Information System in the Healthcare Sector (FRMDC EGISZ). Data on the number of live births from the Federal Register of Medical Birth Certificates of the Unified State Information System in the Healthcare Sector (FRMBC EGISZ) were also used to calculate the infant mortality rate.Results. The results of data processing from FRMDC EGISZ and FRMBC EGISZ correlate with monthly data on infant mortality published by Rosstat. The suggested approach allows rapidly analyse infant mortality rates at the regional level, including causes and place of death.Conclusion. Existing information systems and proven approaches for primary data analysis on birth and death counts make it possible to increase the efficacy of obstetric, gynecological, and pediatric services management, whereas indicators and their calculation frequency can be adapted to health organizers requests.
Background. Hypokalemic periodic paralysis is a rare form of paralysis in children resulting from genetically determined electrolyte disorders. Its diagnosis is complicated due to transient nonspecific symptoms. Case description. The disease onset was at the age of 5 with episodes of muscle weakness and severe fatigue. Later, the number of these episodes has increased. After the surgery child was diagnosed with paralysis of lower limbs (mostly) accompanied by decreased level of potassium in blood serum. Next-generation sequencing, neuromuscular diseases gene panel, has revealed pathogenic variant in the CACNA1S gene (c.3716G>A, p.Arg1239His). The pathological allele was verified via Sanger sequencing in the proband, but not in his parents (de novo mutation). Diagnosis of “Hypokalemic periodic paralysis” was established. The child was transferred from parenteral administration of potassium solutions to oral therapy with KCl (4%) solution. Acetazolamide was added to the treatment regimen, and was subsequently discontinued due to an adverse reaction (persistent metabolic acidosis). Conclusion. Spontaneous paralysis in the patient, accompanied by decrease in serum potassium level, is a reason to suspect hypokalemic periodic paralysis. Administration of potassium medications allows us to prevent any symptoms of disease without reducing patient's quality of life.
Background. Transitory ischemic attacks (TIA) remain a significant public health problem in the pediatric population. The difficulties of diagnostics of TIA in children and the high risk of recurrence (up to 40%) are due to the lack of standards for the patients management, as well as the similarity of the clinical manifestations of TIA with other paroxysmal states (migraine with aura, for example).Case description. A 14-year-old girl was admitted to the hospital in the home area, complaints: headaches, blurred vision (a “light line” in the left F.V.), numb feeling of the left hand, lasts up to 2.5 hours. Diagnosis: migraine with aura. At the checkup the carrier state of variants of six genes (FGB, F13, ITGA2, PAI-1, MTR, MTRR) associated with thrombophilia was revealed, as well as hypoplasia of the right vertebral artery, Kimmerle anomaly with extravasal compression, atrial septal defect, and bradycardia. Recurrent TIAs were diagnosed in the vertebrobasilar territory. Acidum acetylsalicylicum (75 mg/day) was prescribed as per the off-label, with complete relief of TIA episodes for 2 years. Withdrawal of the drug provoked a recurrence of TIA. The resumption of Antiplatelet therapy ensured the onset of remission.Conclusion. Diagnostics of TIA in children is a complex clinical case which requires to exclude a wide range of diseases (migraine with aura, epilepsy, demyelinating diseases). To diagnose the TIA promptly doctors need to remain alert to cerebrovascular pathology, they also need an interdisciplinary step-by-step approach, and analyze the risk factors (thrombophilic gene variants, vascular anomalies, and cardiac pathology). When prescribing antiplatelet therapy to children with TIA doctors conduct the laboratory efficacy monitoring (ASPI test), when discontinuing the therapy doctors assess the risk/benefit ratio due to high risk of relapse.
Hypophosphatasia (HPP) is a monogenic bone disease caused by alkaline phosphatase (ALP) deficiency due to variants in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNALP). This disease is systemic due to numerous ALP functions, and it affects musculoskeletal (bone demineralization with rickets-like changes, stress fractures, arthralgias, enthesopathies, early tooth loss), respiratory (pulmonary hypoplasia), nervous (pyridoxine-dependent seizures, chronic pain syndrome), and urinary systems. HPP diagnosis is based on the repeat measurements of ALP activity and its blood and urine metabolites levels, evaluation of X-ray changes, and revealing ALPL gene variants. The only effective treatment for HPP is enzyme replacement therapy with asfotase alfa. This review covers disease mechanisms, its clinical signs, diagnosis and management methods. Unusual case study of HPP with atypical stress fractures is presented.
Background. Study of the intestinal microbiota in children with allergic diseases during the first 1000 days of life is necessary for pathogenetic correction validation of intestinal dysbiosis during the “window of opportunity” period. Several studies on intestinal microbiota in children during the first 1000 days of life have been conducted in Russia, but not among children with allergies.Objective. The aim of the study is to examine the intestinal microbiota composition in children under two years of age with food allergies.Methods. The study included full-term children aged 6–24 months with food allergy who were followed up on outpatient basis. The taxonomic composition of intestinal microbiota was analyzed via 16S rRNA sequencing. Biological material was collected at home. The taxonomic profile of intestinal microbiota is presented as the relative abundance of taxa, calculated as the proportion (in %) of reads assigned to each taxon out of the total number of reads. Results. The taxonomic composition of intestinal microbiota was studied in 60 children: 37 of them were of the first year of life (6–12 months) and 23 were of the second year of life (13–24 months). Firmicutes, Bacteroidetes, Proteobacteria, and Actinobacteria were revealed in both age groups, while children aged 13–24 months additionally had Verrucomicrobia. Ruminococcaceae family (p = 0.006), unclassified type of Lachnospiraceae family (p < 0.001), and Gemmiger (p = 0.007) were revealed more frequently in children aged 13–24 months, whereas Veillonella (p = 0.007) was revealed less frequently. Opportunistic microorganisms of Veillonella parvula (p = 0.017), Erysipelatoclostridium ramosum, and Intestinibacter bartlettii were revealed in children aged 6–12 months, while the proportion of Faecalibacterium prausnitzii was higher (p = 0.049) in children of the second year of life. Children of the second year of life showed lower degree of sensitization to cow’s milk proteins, while sensitization level to chicken egg proteins remained unchanged.Conclusion. Children of the second year of life with food allergy have higher abundance of commensal microbes was observed in the absence of pathobionts. This result suggests the compensatory tolerance development in children with food allergy early in childhood.
Background. Early postoperative adverse events in children remain a significant clinical problem, their prognosis via multifactorial scales has several limitations (complexity, subjective assessment, insufficient accuracy). Thus, the search for accurate and non-invasive methods for assessing risk of postoperative events remains relevant. Objective. The aim of the study is to examine the prognostic value of breath-holding test (BHT) duration after deep inhalation in assessing the risk of adverse events after elective abdominal surgery in children. Methods . The single-center prospective cohort study included children aged 5–10 years with ASA I–II physical status and planned abdominal surgery. All participants were measured BHT duration (in seconds) three times after deep inhalation with calculating the mean value (at the preoperative stage — the day before anesthesia). Any adverse postoperative events were recorded during the first 6 hours after surgery: pain, postoperative nausea and vomiting, shivering, and agitation. The predictive BHT efficacy was analyzed via multivariate logistic regression and k-fold cross-validation. Results. The study included 160 children. Adverse postoperative events were reported in 36 (22.5%) cases. BHT duration after deep inhalation was the only statistically significant predictor of adverse events in the multivariate logistic regression model: AUC — 0.833 (95% confidence interval (CI) 0.781–0.894), odds ratio — 0.82 (95% CI 0.77–0.88). BHT duration did not change significantly during cross-validation of predictive performance metrics. The optimal value for the development of adverse postoperative events prognosis was BHT duration 28 seconds. The frequency of adverse postoperative events in children with high postoperative risk (BHT 28 seconds) was more than twice as much as in children with BHT > 28 seconds (16.3 and 6.2%, respectively; p < 0.001). Conclusion. BHT test after deep inhalation is a simple and non-invasive method to stratify risk while planning abdominal surgery in children. The BHT duration 28 seconds is the independent predictor of adverse events after such surgeries.
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a progressive lysosomal storage disease with X-linked recessive inheritance. This disease is caused by pathogenic or probably pathogenic variants in the IDS gene encoding iduronate 2-sulfatase. This enzyme insufficiency leads to glycosaminoglycans accumulation in cells of various organs and tissues, which underlies the multisystem lesion. There is neuropathic form of MPS II with progressive central nervous system (CNS) damage and behavioral disorders, and milder form without any intellectual disorders. There are methods of effective pathogenetic therapy for this disease, however, they do not affect CNS manifestations. Thus, there is topical issue in management of neuropathic MPS II forms on transporting enzyme-replacement medications through the blood-brain barrier (BBB). Development of pabinafusp alfa (JR-141), innovative drug penetrating the BBB via transcytosis mediated by the transferrin receptor, became one of the approaches to solve this problem. This publication provides the literature review on the pabinafusp alfa administration for management of neuropathic MPS II forms focusing its efficacy and safety.
Background. Neuromuscular scoliosis (NMS) is the most challenging form of the disease to correct. Unlike idiopathic scoliosis (IS), in NMS, skeletal deformity is accompanied by primary weakness of the intercostal muscles and diaphragm, impaired cough clearance, and a tendency toward hypoventilation. The outcomes of surgical correction of IS and NMS in age- and deformity severity-matched patient groups have not been previously studied. Objective. The aim of the study is to compare changes in volumetric and density characteristics of lung tissue in adolescents with IS and NMS after surgical correction. Methods. This study included data from patients aged 13–17 years with IS and NMS who underwent posterior spinal instrumentation due to thoracic/thoracolumbar scoliosis >40° between 2021 and 2024. The primary endpoint was the change in total lung volume (mL). Secondary endpoint included changes in right and left lung volumes (mL), as well as the proportion of density-defined lung parenchymal zones (% of normoventilated, hypoventilated, and atelectatic zones). Lung volume and pulmonary ventilation were assessed via CT volumetry before (no earlier than 2 months prior) and after surgery (no earlier than 2 weeks and no later than 3 months after the procedure). Results. The outcomes of surgical correction of spinal deformity were studied in 30 patients with IS and 32 patients with NMS matched in gender, age, and degree of spinal deformity (Cobb angle). Baseline total lung volume in the NMS group was lower than in the IS group, with median values of 1084 (639; 1547) and 2041 (1580; 2509) mL, respectively (p < 0.001). After surgery, patients with NMS showed an increase in total lung volume of 110 mL (95% confidence interval [CI] 28 to 192, p = 0.002), whereas the IS group showed a decrease of 266 mL (95% CI –490 to –42; p = 0.012). At the same time, the proportion of normoventilated lung zones increased (right lung by 16.5%, left lung by 15.6%; p < 0.001) in patients with NMS, while the proportion of hypoventilated zones decreased (right lung by 15.0%, left lung by 9.3%; p < 0.001), as did the proportion of atelectatic zones (right lung by 4.8%, left lung by 6.9%; p<0.001). In the IS group, no significant changes in the distribution of lung density zones were observed, except for a decrease in the proportion of left-sided atelectasis from 5.1% to 2.3% (p = 0.044). Conclusion. Surgical correction of scoliosis leads to different dynamics of lung volumetric and density characteristics in adolescents with NMS and IS. There is an increase in total lung volume, an increase in the proportion normoventilated zones, and a decrease in hypoventilated and atelectatic zones in NMS group, while in IS group there is a decrease in total lung volume and atelectatic zones without changes in other pulmonary ventilation parameters. The main limitations of the study are its retrospective design and the analysis of lung volumetric and density characteristics dynamics in early postoperative period.
Background . Venous malformations development is explained by primary venous systems preservation forming inferior vena cava during the embryonic period. Its anomalies lead to thin-walled phlebectatic transformation of gonadal veins; their injury can lead to rupture and continuing bleeding. Such conditions threaten patients’ lives in case of previously undiagnosed vascular system malformations. Case description. 13 years old boy was delivered to emergency department by ambulance with complaints of severe pain in the left half of abdomen and general weakness. Historical data: the child was hit in the stomach during training one hour before admission. The patient's general condition was critical. There were signs of ongoing internal bleeding according to ultrasound examination of abdominal cavity and pelvis, arterial blood pressure fall, and low hemoglobin concentration. Urgent midline laparotomy was performed: large retroperitoneal hematoma was visualized from the iliac vessels going up along the spine. Thin-walled lesion with partial rupture on its lateral wall was revealed during retroperitoneal space revision after evacuation of hematoma. The child was consulted by specialists of the federal center for pediatric vascular surgery after the intervention, he subsequently underwent reconstructive surgery on retroperitoneal space vessels on the left. Tributaries of aneurysmal left testicular vein functioning as inferior vena cava were crossed, varicose left gonadal vein was removed. The child was discharged on the 10th day after the surgery. Conclusion . Congenital vascular abnormalities combined with aneurysmal transformations are extremely rare variant of vascular system malformations in children. Often such anomalies are revealed sporadically. In our opinion, aggressive surgical tactic with removal of varicose sites is effective in case of such transformations as it prevents any rupture and thrombosis.
Food allergy (FA) remains global pediatric issue affecting up to 8% of the child population, it has significant negative impact on the quality of life of children and their families. In recent years, the paradigm of FA prevention has changed dramatically: from elimination strategies to early allergen introduction and immune response modulation. This article provides the analysis of recent scientific data and consensus statements from professional societies that focus on the primary FA prevention strategies efficacy in children.
Background . Cutaneous mastocytosis in children is a rare disease with benign outcome in most cases, however, its course can be aggravated by transformation into mast cell leukemia at the age over 10 years. Moreover, interpreting disease skin syndromes can be challenging in infants. Case description. Case of generalized cutaneous mastocytosis in an infant with regression of the clinical picture by the age of 11 months is described. Disease onset was at 2 months: rashes appeared in the body folds. The patient was diagnosed with Darier – Unna sign upon clinical examination. Laboratory examination has revealed increased total serum tryptase up to 17 μg/l, total IgE — up to 116 IU/ml. There were positive changes (skin syndrome relief, decrease in rashes severity) on treatment with second-generation antihistamine at an age dosage and pimecrolimus 1% for 11 months. Conclusion . It is crucial to perform differential diagnosis with cutaneous mastocytosis in infants with signs of allergic disease and low-positive dynamics of skin process during therapy.
Article 38 of the Constitution of Russian Federation established the function of the State to protect the family, motherhood and childhood. The State’s focus on the family is manifested by taking various state measures to preserve and strengthen it, provide social support, and ensure the family rights of citizens. The family is also a very important social unit, it is is in the custody of law and requires financial stability. Demographic development, upbringing of children as economic, defense and spiritual potential, development of stable highly moral atmosphere in the country are fundamental functions of the family. State programs on children’s health promotion are focused on healthy environment implementation and supporting healthy lifestyle (“children’s space”). They cover various aspects: medical care, education, and social support. The goal of these programs is to stabilize the family state, improve children’s quality of life, prevent diseases, and improve their physical and mental health. The State Program of Russian Federation “Development of Healthcare” is approved by Russian Federation Resolution dated December 26, 2017 № 1640 “On approval of the State Program of Russian Federation “Development of Healthcare” (hereinafter State Program, Resolution). The State Program was prepared according to Decrees of the President of Russian Federation: № 204 “On national goals and strategic objectives of Russian Federation development during the period up to 2024” (dated May 07, 2018) and № 474 “On national goals of Russian Federation development during the period up to 2030” (dated June 21, 2020). It is the basis for further development of society.
Acne vulgaris (AV) is one of the most common inflammatory skin disease in adolescents, characterised by negative impact on patients’ quality of life and psycho-emotional state. Acne affects approximately 85% of children and adolescents according to some data. Fortunately, now there are many safe and effective treatments for acne. Successful AV management often involves combination of medications that act on various pathological mechanisms. However, the paradigm of acne treatment is progressively focusing not only on pharmacotherapy, but also on care strategies based on proven products implementation. Traditionally, the international expert consensus on the use of dermocosmetics provides classification of active ingredients according to their mechanism of action and evidence level in relation to acne. Key active ingredients with proven efficacy include zinc, niacinamide, and many other components that have sebo-regulating, anti-inflammatory, and keratolytic effects, as well as normalise skin microbiome. It is crucial to consider individual skin phylotypes reflecting differences in sebum production, sensitivity, and barrier function when choosing modern dermocosmetics. Thus, dermocosmetics is integral part of comprehensive management of adolescents with acne, providing both therapeutic effect, and quality of life improvement.
