The recessive form of dystrophic epidermolysis bullosa (RDEB) is a debilitating disease caused by impairments in the junctions of the dermis and the basement membrane of the epidermis. Mutations in the COL7A1 gene induce multiple abnormalities, including chronic inflammation and profibrotic changes in the skin. However, the correlations between the specific mutations in COL7A1 and their phenotypic output remain largely unexplored. The mutations in the COL7A1 gene, described here, were found in the DEB register. Among them, two homozygous mutations and two cases of compound heterozygous mutations were identified. We created the panel of primary patient-specific RDEB fibroblast lines (FEB) and compared it with control fibroblasts from healthy donors (FHC). The set of morphological features and the contraction capacity of the cells distinguished FEB from FHC. We also report the relationships between the mutations and several phenotypic traits of the FEB. Based on the analysis of the available RNA-seq data of RDEB fibroblasts, we performed an RT-qPCR gene expression analysis of our cell lines, confirming the differential status of multiple genes while uncovering the new ones. We anticipate that our panels of cell lines will be useful not only for studying RDEB signatures but also for investigating the overall mechanisms involved in disease progression.

Psoriasis is chronic inflammatory skin disease that can develop at any age. Approximately 20–30% of all patients report about first rashes before the age of 18. Psoriatic arthritis is one of psoriasis comorbid conditions. Its signs can range from mild to extremely severe destructive forms. Arthralgia, joint stiffness and swelling are the most common symptoms. Early psoriatic arthritis treatment onset allows to control joint damage which usually occurs during the first 2 years of the disease. The moderate and severe course of psoriasis and psoriatic arthritis may require systemic therapy, however, there is not much data on the efficacy and toxicity of systemic agents in the pediatric practice. This article provides the review of studies on etanercept efficacy and safety in children with psoriatic arthritis.

Reduced skin barrier properties in patients with atopic dermatitis (AtD) are largely caused by microbiome changes and extensive Staphylococcus aureus colonisation of the skin. In this regard, the integument of patients with AtD requires constant care and the use of various emollients. The inclusion of lysates of non-pathogenic microorganisms and prebiotics in the composition of emollients ensures the normalisation of the microbiome composition and the immunological barrier of the skin. The article presents the results of our own observations on the application of two cosmetic scin-care products for damaged skin with vitamin F in children with AtD complicated by a secondary infection, while the composition of one of the products is additionally enriched with ceramides and prebiotics. The safety and high efficacy of both products have been shown, however, the presence of ceramides and prebiotics in the emollient composition makes it possible to achieve a marked decrease in the degree of S. aureus colonisation of the skin.

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BackgroundAcrodermatitis enteropathica (AE) is a rare disease occuring mainly in infants. The clinical symptoms are periorificial and acral dermatitis, alopecia, diarrhoea. The cause of disease is nutritional zinc deficiency or inherited disorders of zinc absorption.ObjectivesTo clarify the role of genetic factors in the AE’s aetiology.MethodsWe observed two children with AE by clinical, laboratory, instrumental examination and bidirect sequencing of all coding exons and adjacent intronic regions of SLC39A4 gene.ResultsCase 1:Girl, 2,5 years old, with rash appeared at age of 21 months. Clinical findings were malnutrition, acral eczematous plaques, hair loss, weakness, mild hepatomegaly, joints pain, diarrhoea, moderate anaemia.Case 2:Boy, 6 months old, suffering from classical phenylketonuria (PKU), getting special diet from the first week of life. Eruptions on the acral body areas appeared from the 4th month of age, regarded as atopic dermatitis and appointed corticosteroids with no effect at the place of residence. On admission the main symptoms were Cushing’s syndrome, rash with typical localization, diarrhoea, moderate anaemia, hypoalbuminemia.The rare homozygous polymorphism c.473C>T in exon 02 of SLC39A4 gene leading to amino acid change p.T158M was revealed in both children. Besides the girl (case 1) also carried out heterozygous nucleotide substitution c.1220T>G leading to amino acid change p.L407R not described earlier.The diet therapy consisted of: in case 1 partial parenteral and enteral nutrition, in case 2 PKU diet by use of hydrolyzed whey protein formula and an amino acid mixture without phenylalanine. Both children received zinc medications in enteral and parenteral forms, fat-soluble vitamins, topical ointment treatment. Children continued to receive zinc supplements after discharge. After 2 weeks there was a significant regression of lesions, stool normalisation, haemoglobin increase. Follow-up observation after 3 months showed normal nutritional status, absence of anaemia, the complete absence of skin lesions. The girl recovered hair growth.ConclusionsThe detected rare nucleotide substitutions in SLC39A4 gene provide a basis to confirm the diagnosis and expand understanding of the AE aetiology. Multidisciplinary approach involving dermatologists, nutritionists and geneticists plays an important role in the AE diagnosis and treatment.

The authors present an overview of the present day knowledge of methods of biological therapy used for treatment of severe psoriasis at an early age. Data is presented on efficiency, safety, required monitoring of clinical and laboratory performance, specifics of vaccination during the treatment of children with genetically engineered biological drugs. Data is presented on the authors’ own clinical observations of 10 adolescents who were administered the preparation of ustekinumab. The objective of the observational study was assessment of efficiency and safety of application of ustekinumab for treatment of severe psoriasis with children over 12 years of age. Materials and Methods. The observation covered 10 children, their average age being 15±2.8 years old, the PASI index 39.3±9.5, who were administered ustekinumab at a dose of 45 mg under a standard administration regimen. Results. The therapeutic effect was assessed based on the PASI index, which was found to decrease by 75% with 6 adolescents, and by 90% with 4 adolescents as soon as by week 14 of the therapy. As is shown by the follow-up observation, the skin pathological process was completely resolved with 80% of adolescents after 3 injections of ustekinumab, and with 100% after 4 injections. Conclusion. The preparation of ustekinumab is efficient and safe for treatment of psoriasis at an early age. As based on the PASI index as the main criterion of assessment of treatment efficiency, ustekinumab (Stelara) is the medicine of choice for treatment of severe forms of the disease from the age of 12 years old.

Атопический дерматит (АтД) является распространенным кожным заболеванием и оказывает серьезное влияние на качество жизни пациентов и их семей. В последние годы все чаще используется термин «чувствительная кожа», подразумевающий под собой независимый синдром с субъективными ощущениями (жжение, зуд, покалывание и др.), а также утолщением и сухостью кожи в ответ на факторы окружающей среды (биотические, абиотические и антропогенные), которые не вызывают таких симптомов среди здоровых людей. В статье описан патогенез АтД с ассоциированным ему синдромом чувствительной кожи, а также алгоритм их лечения. Проанализированы параметры эффективности и безопасности 1% крема пимекролимус у детей, в том числе при нанесении на участки чувствительной кожи.

Atopic dermatitis (AtD) is multifactorial inflammatory skin disease, one of the aspects of its pathogenesis is epidermal barrier dysfunction. Early development of AtD is associated with filaggrin dysfunction. Filaggrin is a protein involved in aggregation of keratin filaments in the upper layers of epidermis and the retention of lipids and proteins between corneocytes. Frequently, filaggrin dysfunction can be accompanied with secondary infection and high risk of other allergic diseases development. This can happen due to disturbance in terminal differentiation of epidermal cells and, as consequence, malfunction of epidermal barrier. Thus, the long regular use of emollients is the basis of AtD therapy. New class of emollients (“emollents plus”) allowed us to achieve more significant treatment results in patients with AtD. These emollients reduce inflammatory process activity in the skin by replacing structural components of abnormal epidermal barrier.