Atopic dermatitis (AD) is one of the most common inflammatory skin diseases. Early management of AD is crucial for preventing the development of atopic disease such as asthma, allergic rhinitis, etc. Topical glucocorticoids (TGCs) are used as first-line therapy, however, their long-term use poses the risk for patient's health. Despite the rapid clinical response at skin process aggravation, long-term use of TGCs in first-line therapy is associated with various adverse events, including: skin atrophy, hypothalamic-pituitaryadrenal axis suppression, telangiectasis, etc. All together it limits the long-term TGCs use, especially in management of pediatric patients and using such drugs in sensitive regions such as face and intertriginous areas. Due to these limitations TGCs should only be used for a short period of time. Thus, limitations in both treatment duration and number of drugs make TGCs non-optimal for long-term AD treatment. Pimecrolimus (1% cream) is a topical calcineurin inhibitor that is indicated for the treatment of mild to moderate AD. Pimecrolimus does not cause any significant side effects compared to TGCs and it is well tolerated for long-term administration.

Acne vulgaris (AV) is a common skin pathology in adolescents, it is characterized by chronic recurrent inflammatory process affecting the pilosebaceous units. This disease has significant negative effect on both quality of life and psychosocial well-being, resulting in development of various mental disorders and physical discomfort, including not only typical clinical signs, but also post-acne symptom complex. Nowadays, the paramount importance in disease pathophysiology are changes in the skin microbiome caused by interactions between genetic and exposomal factors leading to increased cutaneous fatty secretion by sebocytes and concomitant dysfunction of the epidermal barrier due to ongoing inflammatory process. Current AV treatment options include topical and systemic therapies with various clinical and pharmacological groups. However, most available options (for dermatovenerologists) can provoke dry skin and irritate sensitive adolescent skin due to additional disruption of epidermal barrier and microbiome composition. All together it significantly reduces patient compliance, and, therefore, reduces the treatment success rate. We have to mention that AV management should be carried out for a long time to prevent the recurrence observed in one third of all cases. It emphasizes the topicality of adequate optimization of treatment regimens used in wide clinical practice. In this context, guidelines for skin care have the leading role. It is crucial part of AV management, and it can not only improve compliance, but also increase the efficacy of prescribed drugs through synergistic interactions. Though, the comprehensive analysis of the available core care products, their composition and the effect of their ingredients on the structural and functional integrity of the skin, is required to ensure such effect.

Advances in understanding the mechanisms underlying chronic inflammatory skin diseases, such as psoriasis vulgaris, have led to implementation of new treatment options aimed at symptoms relieving. Moreover, this data may become the basis for new strategies to achieve sustained or treatment-free remission, that is disease modification with potential impact on comorbid conditions. However, achieving this goal requires further study of such crucial aspects as the terms of disease modification and disease activity indicators, deeper understanding of pathogenesis mechanisms, etiology, and systemic side effects, possible opportunities, biomarkers for successful patient stratification and intervention, as well as the adequate study design. Early intervention with genetically engineered biologic drugs such as secukinumab represents new paradigm shift in improvement of immune-mediated diseases outcomes. However, new evidence is needed to determine its efficacy in psoriasis. High level of sustained skin clearance observed on secukinumab therapy compared to standard treatment and phototherapy indicates the potential benefit of early biologic drugs treatment to achieve complete skin clearance and improvement in quality of life, education, and daily activities. It can also become a background for changing treatment strategies for patients with newly diagnosed moderate-to-severe plaque psoriasis. Keywords: psoriasis, children, secukinumab, disease-modifying treatment

Background. Focal scleroderma is rare, acquired disease characterized by inflammation, sclerosis, skin and underlying tissues atrophy, with no lesions to internal organs. However, craniofacial localized scleroderma (CLS) can lead to neurological, ophthalmic, and maxillofacial changes. Extracutaneous lesions at limited scleroderma remain poorly studied despite its high prevalence. Objective. The aim of the study is to characterize brain anomalies revealed at neuroimaging and to analyze their incidence in pediatric patients with focal scleroderma, as well as to describe comorbid neurological and ophthalmic disorders. Methods. Descriptive retrospective cross-sectional study included 33 pediatric patients who underwent hospital treatment at dermatology and allergology department of National Medical Research Center of Children’s Health with diagnosis of focal scleroderma from 2016 to 2024. All patients were examined by neurologist and ophthalmologist during hospitalization, as well as magnetic resonance imaging (MRI) was performed. The incidence of neurological, ophthalmic, and radiological signs was evaluated in the studied patients as well as their correlations within the data analysis. Results. 33 pediatric patients from 3 to 17 years old were studied. The number of boys and girls was not significantly different (p=0.46). MRI neuroimaging changes were revealed in 17 of 33 patients (51.5%). 12 patients (36.4%) had isolated disorders, 5 (15.1%) — multiple (two or more types) according to MRI data. Neurological disorders were reported in 8 out of 33 patients (24%). Ophthalmic disorders — in 10 out of 33 (30.3%). The study has revealed correlation indicating that the presence of epilepsy in CLS is associated with changes in the brain structure according to MRI (hyperintensive signal at T2-weighted image and FLAIR) (p=0,022). Also, such changes as hypointense signal during T2-VI are correlated with tension headache (p=0.03). No correlation between ophthalmic changes and neuroimaging changes was revealed. Conclusion. Significant number of pediatric patients with CLS have wide range of ophthalmic and neurological manifestations, including neuroimaging abnormalities. Precise and timely diagnosis of these symptoms is crucial for determining treatment intervention.

Background. Patients with psoriasis have increased thickness of visceral fat, including epicardial adipose tissue (EAT) that has wide spectrum of biological effects. Its thickness can be affected by the presence of obesity and eating behavior (EB) changes. Studying the associations between EB and markers of adipose tissue functional activity in children with psoriasis may help to better understand this variables correlations in the scope of comorbidities. Objective. Aim of the study is to analyze the relationship between Psoriasis Area and Severity Index (PASI), Children’s Dermatology Life Quality Index (CDLQI), EAT thickness, and leptin levels in pediatric patients with psoriasis and EB disorders. Methods. Retrospective cross sectional single-center study was conducted. 72 medical records of children with psoriasis (with varying body mass index level) who were examined and treated in dermatology department in the period from December 2021 to January 2024. All included patients have underwent dietician consultation and survey with DEBQ and CEBQ questionnaires, as a result predominant EB type was determined. EAT thickness (via two-dimensional echocardiography) and leptin levels were also measured. Psoriasis severity was evaluated via PASI and CDLQI indices. Patients were divided into three groups: with external, emotiogenic, and restrictive EB. The medians of the obtained values were calculated with determination of the confidence interval, all results were compared with each other via Kruskall-Wallis test. Results. Group of patients with external EB has shown following results: median EAT thickness was 2.5 mm (Q₁–Q₃: 2.1–2.8), median leptin level — 17.3 ng/ml (Q₁–Q₃: 14.4–26.4), median of PASI — 17 points (Q₁–Q₃: 12.5–20.5), median of CDLQI — 7 points (Q₁–Q₃: 4–13.5). Group of patients with emotionogenic EB has median EAT thickness of 2.2 mm (Q₁–Q₃: 1.85–2.55), median leptin level — 20.1 ng/ml (Q₁–Q₃: 14.5–23.95), median of PASI — 14 points (Q₁–Q₃: 12–16.5), median of CDLQI — 6 points (Q₁–Q₃: 3–12). Group of patients with restrictive EB has median EAT thickness of 3.4 mm (Q₁–Q₃: 3.1–3.9), median leptin level — 28.2 ng/ml (Q₁–Q₃: 26.1–33.5), median of PASI — 24 points (Q₁–Q₃: 21–27), median of CDLQI — 13 points (Q₁–Q₃: 9–21). Statistically significant (p = 0.0014) increase in PASI and CDLQI points was observed at comparison of different groups via Kruskall-Wallis test. Patients from restrictive EB group have shown higher values of EAT thickness, leptin levels, PASI, and CDLQI scores compared to patients with emotionogenic and external EB. No statistically significant differences were observed when comparing leptin levels and EAT thickness in the remaining groups. Conclusion. Patients with restrictive EB had higher PASI and CDLQI scores compared to patients with emotionogenic and external EB. No statistically significant differences were observed when comparing EAT thickness and leptin levels. Small study sample was the only research limitation.

Background. The prevalence of all types of congenital epidermolysis bullosa (СEB) worldwide is approximately 11 cases per 1 million according to the latest data from the American Epidermolysis Bullosa Registry. Data on the prevalence of СEB in Russian Federation is scattered, while data on life expectancy and mortality for this this disease is absent. This article presents medical and epidemiological data on children with СEB in Russian Federation. Objective. The aim of the study is to analyze clinical and epidemiological features of children with СEB in Russian Federation. Methods. We have performed analysis of the clinical and epidemiological features among pediatric population of Russian Federation with СEB using the “Registers of Genetic and Other Rare Diseases” of the “Butterfly Children” charitable foundation. Results. There are 491 children with СEB in Russian Federation as of 2024 according to the national registry data from “Registers of Genetic and Other Rare Diseases” of the “Butterfly Children” charitable foundation. The ratio of boys and girls was 1.08:1, that is relevant to the global data. The prevalence of CEB in children aged from 0 to 17 years in Russian Federation is 15.48 cases per 1,000,000 children as of January 1, 2024. The highest number of children with CEB were revealed in the Republic of Dagestan — 54 (11%) children, which is apparently due to the high rate of consanguineous marriages (50%). Other regions with high prevalence are Moscow Region (n = 28, 5.7%), Moscow (n = 25, 5.1%), Saint Petersburg (n = 26, 5.2%) and Krasnodar Territory (n = 23, 4.6%). Largest age group of children (from 12 to 18 years) includes 146 patients with mean age of 14.32 ± 1.72 years. The most common form of CEB is dystrophic one — 261 patients, the next one is simplex — 191 patients, then junctional form — 31 patient, and Kindler syndrome — 8 patients. The birth rate of children with CEB by year during the period from 2019 to 2023 (per 100,000 children born): 2019 — 1.42, 2020 — 2.09, 2021 — 2.65, 2022 — 2.76 and 2023 — 1.74. The arithmetic mean birth rate of children with CEB over a five-year period was 2.13 cases per 100,000 children born. The registry contains information on 22 deceased patients, average age was 3.06 ± 4.66 (from 0 to 15 years, median 0.54 years). The highest number of fatal outcomes was observed in the Republic of Dagestan (n = 3). Junctional CBE dominates in fatal outcomes among all the CEB types — 59.1% (n = 13 cases, 0.40 ± 0.22 years). The highest mortality was observed in I age group (from 0 to 1 year), which is 65.2% (15 fatal outcomes). Multisystem organ failure resulting from sepsis was the most common cause of death in both types of CEB (junctional and dystrophic). The mortality trend in the junctional form of CEB shows a decline in mortality, while the dystrophic type shows a stable situation during 2021–2023 years — 2 fatal outcomes per year. Junctional CEB has higher mortality rate at early age: survival curve shows sharp decline in the first months of life indicating high mortality in early life. The probability of survival drops to almost 0% in the first 100 days. Higher survival rate is more specific for the dystrophic type of CEB. Conclusion. This study demonstrates the significance and necessity to create and maintain registers for rare (orphan) diseases. Registry maintenance is an effective model for real understanding of the number of patients and value of needed assistance from the government to this category of patients.

Background. Post-burn scars are common among pediatric patients. Pathological scarring is clear indication for conservative or surgical management of pediatric patients who continue to grow and develop after the resolution of burn injuries. Such lesions can significantly reduce patients' quality of life and, moreover, cause significant functional and aesthetic discomfort. Clinical cases description. The results of observation over two children (2 years 7 months and 12 years) with developing post-burn scars are demonstrated. Successful management method using physiotherapeutic complex (including monopolar radiofrequency treatment combined with ultrasound therapy, photodynamic therapy, and close-focus X-ray therapy) is presented. Conclusion. Modern trends in post-burn scars management are based on timely implementation of effective and safe methods early on rehabilitation stages and tissue restoration after burn injury to prevent pathological scarring and achieve control over its activity.

Background. Localized scleroderma (LS) is an inflammatory sclerosing disease of unknown etiology. It is characterized by progressive lesion of connective tissue leading to sclerosis and/or atrophy of the skin and underlying tissues. The LS prevalence is 27 cases per 1 million per year, and 3.4 cases occur in children. Clinical case description. This article presents two clinical cases of LS in children under the age of 12 years. Contour plastic surgery with adipose tissue (lipofilling) was performed in both cases. It was possible to achieve volume correction via lipoaspirate, to increase derma and subcutaneous fat thickness in sclerosis focus, to reduce skin tightness, and to improve microcirculation during the treatment. Conclusion. Surgical management of children with lipofilling allows to eliminate gross facial defects, to increase the subcutaneous fat layer in sclerosis foci. Moreover, these patients report an improvement in psycho-emotional state after autotransplantation of adipose tissue.

Background. Proteus syndrome is extremely rare congenital multisystem disease with high variability in clinical manifestations. Its prevalence is unknown, there are less than 200 cases in the world literature. The syndrome is a classic example of somatic mosaicism, and all target drugs for its management are based on it. Clinical case description. This article describes two clinical cases with somatic variants of the nucleotide sequence in the AKT1 gene, mosaic form, revealed by the NGS method. Target drug (mTOR-inhibitors group) was assigned in one case. Conclusion. The description of the phenotypic features of patients with Proteus syndrome is crucial as this pathology is very rare. It is necessary to increase the awareness of clinicians about this disease to develop a plan for dynamic follow-up with consideration to life-threatening complications (malignant tumors and thrombembolia risk). Genetic verification of Proteus syndrome is mandatory nowadays as target therapy is actively developed and implemented, thus, revision of clinical guidelines is recommended.

Background. Blueberry muffin baby syndrome in newborns is characterized by diffuse nodular skin lesions and it is difficult for diagnosis due to diverse etiology. Etiological factors include congenital infections, intrauterine hemolytic disease, multifocal vascular abnormalities, and neoplastic conditions. Congenital neonatal leukemia is rare disease and it is usually revealed during the first month of life. Clinical case description. This clinical case presents a patient with congenital acute myeloid leukemia and severe skin manifestations. Treatment has included risk-adapted chemotherapy with subsequent allogeneic hematopoietic stem cell transplantation from a haploidentical donor (father). Conclusion. The significance of multidisciplinary approach in management of patients with congenital leukemias consist of timely determination of the disease variant, prognostic risk group, and initiation of programmed treatment.

Background. Cutis verticis gyrata is rare benign scalp disorder characterized by excessive skin and subcutaneous tissue proliferation and hypertrophy. Nowadays, there are three forms of this disease with various developmental mechanisms and associated manifestations. Clinical case description. This article presents the patient admitted with diagnosis and clinical picture of pachydermia, who underwent surgical excision of scalp abnormal tissues. However, the diagnosis of giant congenital melanocytic nevus was established according to the results of clinical examination. Later it was confirmed by histological and immunohistological studies. Moreover, pathogenic variants in the NRAS gene were not revealed. Conclusion. This case demonstrates the complexity of differential diagnosis of pachydermia that leads to careful examination of patients with morphogenetic studies of affected tissues samples.

Background. Atopic dermatitis (AD) is a chronic inflammatory skin disease with such clinical manifestations as eczematous lesions and itching. One of its clinical forms is palmoplantar eczema. It is urgent and unresolved issue in pediatric dermatology as this disease significantly affect the patients’ quality of life due to involvement of functionally significant areas, symptoms severity, difficult induction of remission. Clinical case description. This article presents case series of patients with AD involving palms and soles who have shown positive results to the treatment with genetically engineered biologic drug — dupilumab. Conclusion. Palmoplantar eczema, as one of the forms of AD, hardly responds to topical therapy in clinical practice of dermatologist. Moreover, systemic treatment is not only limited in pediatrics, but also is not effective enough. Prescription of the genetically engineered biologic drug, dupilumab, seems to be one of the effective methods for management of this disease in these patients.

Background. Management with genetically engineered biologic drugs is recommended for patients with palmoplantar psoriasis when standard external therapy, physical therapy, and classical immunosuppressants lack efficacy. We present the results of ustekinumab administration in children with palmoplantar psoriasis resistant to standard therapy. Clinical case description. The results of ustekinumab administration in 12 children with palmoplantar psoriasis are presented. No comorbid pathologies were revealed in these patients during further examination. Thus, genetically engineered biologic therapy with ustekinumab (45 mg subcutaneously according to the recommended treatment regimen) was initiated due to the absence of any contraindications. 58.33% of all patients have achieved lower scores of PASI 90 index 12 weeks after therapy initiation. Conclusion. Management with genetically engineered biologic drugs such as ustekinumab (according to recommended regimen) may be suggested for patients with palmoplantar psoriasis due to its systemic chronic pathological process and lesions of functionally significant areas and in cases when standard external therapy, physical therapy, and classical immunosuppressants lack efficacy, in the absence of contraindications.

Background. Vitiligo is a depigmenting skin disease characterized by selective loss of melanocytes leading to development of typical white spots. There are various theories on vitiligo etiology: genetic, autoimmune, neurogenic, autoinflammatory, oxidative stress theory, and many others. Generally accepted dominant role is given to the concept of its autoimmune nature. Vitiligo management traditionally includes different methods of phototherapy, topical and systemic glucocorticoids (GC), and calcineurin inhibitors. Recently, Janus kinase inhibitors (JAK) have shown its efficacy in treatment of vitiligo. Clinical case description. 13-year-old male adolescent has complaints of hypopigmentation areas on the skin of face, trunk and limbs that appeared after active solar insolation during summer vacation. Dermatologist has determined a diagnosis of vitiligo according to clinical picture. Topical GC of the 3rd activity class were used for treatment, as well as course of local narrow-band medium-wave photodynamic therapy (311 nm, No. 30) with no significant effect. The patient was admitted to the dermatology department of Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery where therapy with JAK inhibitor, tofacitinib, was initiated due to inefficacy of previous treatment and the generalized form of the disease. Conclusion. Management of vitiligo with JAK inhibitors, in particular tofacitinib, is a promising method and it can lead to significant clinical effect with safety profile comparable to conventional therapies for this pathology.

Background. Mastocytosis is a very rare disease with various manifestations, based on abnormal clonal proliferation of mast cells in organs and tissues, such as: skin, bone marrow, lymph nodes, liver, spleen, and gastrointestinal tract. The diagnosis can be established according to clinical manifestations, laboratory, and instrumental data. Darier’s sign and histological examination are crucial for mastocytosis diagnosis. The presented clinical case describes very rare cutaneous form of mastocytosis. Clinical case description. The girl, 2.5 years old, was hospitalized with multiple erythematous papules on her body, face, and limbs. Comprehensive examination, including bone marrow biopsy and positron-emission tomography, allowed us to exclude mastocytosis systemic manifestations. Conclusion. Despite the fact that mastocytosis in children is mostly represented by skin form, it is necessary to perform complex patient examination on any systemic damage. Antihistamines in combination with topical and/or systemic glucocorticoids are often effective, but complete response does not always occur. Implementation of other therapeutic options, such as targeted drugs (tyrosine kinase inhibitors), is suggested In case of no or insufficient therapeutic effect.

Background. Congenital ichthyosis (CI) is relating to the group of clinical and genetically heterogeneous severe genodermatoses. SAM syndrome is included in classification of CI syndromic forms. Defects in the desmoplakin (DSP) and desmoglein 1 (DSG1) genes are the prime cause of disease. Impaired function of encoded proteins leads to desmosomal anomalies and disease symptoms. Comorbid atopic syndrome becomes the major cause of diagnostic mistakes. Patients are observed continuously with diagnosis “Atopic dermatitis (AD) torpid to standard treatment methods”. Clinical case description. This article describes a rare case of a boy with severe AD. Despite the chronic dermatosis several systemic disorders were revealed during examination: short stature, protein-energy malnutrition, adrenal insufficiency, juvenile polyarthritis, vitamin D deficiency, onychodystrophy, dysmorphic disorders. Molecular genetic study conducted via high-throughput sequencing followed by validation with Sanger sequencing has revealed two genetic variants: novel variant chr18:28934543G>T in the DSG1 gene in the heterozygous state and pathogenic variant chr5:157468728C>A in the NIPAL4 gene in the homozygous state. As a result, the final diagnosis was established: “SAM syndrome. Congenital ichthyosiform erythroderma”. Flow cytometry immunology study has shown dominant immunological profile of Th17-, and Thact-lymphocyte proliferation. The immunobiological therapy with IL-17A inhibitor, secukinumab, was initiated. Clinical efficacy was evaluated via ISS (Ichthyosis Severity Index), CDLQI (Children’s Dermatology Life Quality Index), pruritus numerical rating scale. ISS was 5.8 points, pruritus scale — 9, CDLQI — 24 at therapy initiation. Improvement in the skin condition was observed after a month of therapy. ISS was 1.2 points, pruritus scale — 2, CDLQI — 4 6 months after the therapy initiation. Conclusion. The diagnosis of a child with combined form of CI made it possible to change the management strategy, to prescribe pathogenetically justified targeted immunobiological therapy, and to achieve significant improvement in the child's health and quality of life, which does not differ from healthy peers.