One of the target drugs for plaque psoriasis treatment is apremilast, which is a selective phosphodiesterase 4 (PDE4) inhibitor. In this study, 34 moderate-to-severe and severe plaque psoriasis patients from Russia were treated with apremilast for 26 weeks. This allowed us to observe the effectiveness of splitting patient cohorts based on clinical outcomes, which were assessed using the Psoriasis Area Severity Index (PASI). In total, 14 patients (41%) indicated having an advanced outcome with delta PASI 75 after treatment; 20 patients indicated having moderate or no effects. Genome variability was investigated using the Illumina Infinium Global Screening Array. Genome-wide analysis revealed apremilast therapy clinical outcome associations at three compact genome regions with undefined functions situated on chromosomes 2, 4, and 5, as well as on a single single-nucleotide polymorphism (SNP) on chromosome 23. Pre-selected SNP sets were associated with psoriasis vulgaris analysis, which was used to identify four SNP-associated targeted therapy efficiencies: IL1β (rs1143633), IL4 (IL13) (rs20541), IL23R (rs2201841), and TNFα (rs1800629) genes. Moreover, we showed that the use of the global polygenic risk score allowed for the prediction of onset psoriasis in Russians. Therefore, these results can serve as a starting point for creating a predictive model of apremilast therapy response in the targeted therapy of patients with psoriasis vulgaris.

Goal. To study the prevalence of hereditary epidermolysis bullosa (HEB) in the Russian Federation. Materials and methods. The data on the number of HEB patients by subjects of the Russian Federation as well as their age and disease type were obtained based on questionnaires. The questionnaires were sent to dermatovenerology healthcare institutions from 85 subjects of the Russian Federation. The HEB prevalence rates in the subjects of the Russian Federation were calculated as the ratio of the number of HEB patients in the subject of the Russian Federation to the population size in the subject per million residents. Results. Information about 438 HEB patients (210 female and 228 male) aged 0-66 was collected in 70 subjects of the Russian Federation as of January 1, 2015. The disease type was specified for 139 patients (86 patients with common HEB, 50 patients with dystrophic HEB and 3 patients with the borderline form of HEB). No details about the disease type were provided for 299 patients (68.26%). The HEB prevalence rate in the subjects of the Russian Federation varies from 0 to 19.73 cases per million residents. Conclusion. These data on the HEB prevalence rate in 70 subjects of the Russian Federation are comparable to the data specified in literature sources providing information on the HEB prevalence rate in some foreign states. The data represent the first step to the development of clinical recommendations concerning HEB management and establishment of a register of in the Russian Federation.

Background: Inherited epidermolysis bullosa is a group of genetic skin disorders. In most severe forms, such as junctional and dystrophic subtypes, quality of life and life expectancy are significantly decreased. Therapeutic approaches include wound care and complication treatment.Aims: To evaluate the incidence and prevalence of inherited epidermolysis bullosa in the Russian Federation, sociodemographic characterisrics and provision of healthcare.Methods: To conduct the research forms summarizing demographic, medical and social information on inherited epidermolysis bullosa patients were developed. The forms were sent to state outpatient dermatologic clinics in federal subject of the Russian Federation. Data on inherited epidermolysis bullosa patients from outpatient dermatologic clinics were obtained within the period of 2014−2016 by extracting information from their medical charts. A confirmed inherited epidermolysis bullosa diagnosis was considered as an inclusion criterion for the research. Based on the collected data prevalence and incidence rate were estimated.Results: Data on 439 patients from 70 federal subject at year-end 2014, 404 patients from 59 federal subject at year-end 2015 and 417 patients from 60 federal subject at year-end 2016 were collected. In 2014 EB simplex was diagnosed in 19.6% patients, dystrophic EB — in 11.6% patients. In most patients (66%) EB type was not diagnosed. In 2016 patients with EB simplex (48%) and dystrophic EB (24.2%) prevailed. In 25% patients an EB type was not specified. In 2014 the prevalence rates were estimated as 3.6 (in 70 federal subject), in 2015 — 3.8 (in 59 federal subject), in 2016 — 3.9 per 1 million population (in 60 federal subject). The incidence rates were estimated as 0.22 and 0.33 per 1 million population in 2015 and 2016 respectively.Conclusions: In 2016 the percent of patients with established EB type has increased in comparison to 2014. No significant changes in prevalence rates has been registered.

To define the role of neurotransmitters and their receptors in the development of itch and in the maintenance of a skin inflammatory response in patients with psoriasis and atopic dermatitis. Skin biopsy specimens from 30 patients with psoriasis and 30 patients with atopic dermatitis were investigated by histological, immunoperoxidase, and indirect immunofluorescence assays. The investigators determined the expression of protein gene product 9.5 (PGP9.5), amphiregulin, semaphorin 3A, calcitonin gene-related peptide (CGRP) and its receptor (CGRP-R), nerve growth factor (NGF) and its receptor TrkA, and substance P (SP) and its receptor SP-R. The indirect immunofluorescence assay was used for quantitative analysis. The findings were statistically analyzed using a Statistica 10 program. Immunoperoxidase examination of the skin biopsy specimens from patients with atopic dermatitis and psoriasis revealed enhanced expression of amphiregulin, NGF, and PGP9.5, appearance of positively stained epidermal nerve fibers, and decreased expression of the nerve reduction factor semaphorin 3A in all cases. Some patients with atopic dermatitis and psoriasis showed increased expression of CGRP and CGRP-R, SP, SP-R, and TrkA. A pronounced inflammatory response was generally observed in these cases. The investigation performed suggests that atopic dermatitis and psoriasis are characterized by a larger number of epidermal nerve fibers and by a direct correlation between this indicator, disease severity, and itch intensity. The production of neuropeptides and neurotrophins is closely related to the development of a skin inflammatory response irrespective of its cause and dysregulation of these processes is likely to favor the body's sensitization and the chronic pattern the course of diseases.

Psoriasis is one of the most prevalent chronic inflammatory skin diseases. The severity of its clinical manifestations can vary greatly. Objective assessment of psoriasis severity is required to select an adequate therapy. One of the simplest and most consistent methods used to determine psoriasis severity is to calculate the PASI (Psoriasis Area and Severity Index). This index is based on the doctor’s determination of the sum of indices showing the intensity of the main symptoms of psoriasis: erythema, infiltration and peeling in view of the affected skin area. The PASI can also be used to assess the efficacy of treatment for psoriasis patients.

Background. Mycosis fungoides (MF) is the most common subtype of cutaneous T-cell lymphoma. The aim of the present study was to produce up-to-date information on different phototherapy approaches on skin cytokines in patients with MF. Methods. A total of 27 patients with mycosis fungoides were treated with phototherapy: NB-UVB (narrowband ultraviolet B therapy) (10 patients) and PUVA (long-wavelength ultraviolet radiation of spectrum A with the use of skin-photosensitizing furocoumarins) therapy (17 patients). Evaluation of the effectiveness of treatment was carried out using BSA (body surface area) and the modified assessment of the severity of the skin lesions scale (mSWAT) used to quantify tumor mass in cutaneous T-cell lymphomas. Average numbers of procedures were 30.2 and 27.8 in the NB-UVB and PUVA groups, respectively. The median total dose of NB-UVB irradiation was 19.9J/cm² and PUVA therapy was 104.0J/cm². The overall response to therapy including complete and partial remission was 74.9 in the total group; 70 in the NB-UVB group, and 77.7 in the PUVA therapy group. In the obtained biopsies from lesions, surrounding tissue before treatment and skin samples of four healthy volunteers, the concentration of the IL-1β, IL-4, IL-6, IL-10, IL-17A, IL-17F, IL-21, IL-22, IL-23, IL-25, IL-31, IL-33, IFN-γ, sCD40L, and TNF-α cytokines was studied. An increase in IL-4 and TNF-α levels was shown in the lesional skin of patients compared to the skin of healthy controls. After the treatment, positive correlations of mSWAT with the levels of IL22, IL33, and TNF-α in the tumor tissue were found. The levels of IL10 and IFN-γ after PUVA treatment were increased in comparison to baseline. There was no difference in cytokine levels before/after NB-UVB therapy.