O. V. Dolya

This article presents a literature review. Musculoskeletal involvement in syphilis remains a significant clinical challenge, especially in the context of modern diagnostic technologies. Skeletal lesions can occur at any stage of the disease and manifest as periostitis, osteitis, and osteomyelitis, which are characterized by gummatous inflammatory processes of varying localization and degrees of destruction. Statistical data indicate that bone lesions are extremely rare in the early stages of syphilis. However, in tertiary syphilis, their frequency increases significantly and reaches 20—30%. The skull, nasal bones, long bones, and clavicle are affected most commonly. Notably, symptoms may be minimal or absent, complicating timely diagnosis and leading to delayed detection. The development of modern diagnostic technologies, such as magnetic resonance imaging and computed tomography, could ensure early detection of bone lesions in late-stage syphilis, which would facilitate the timely treatment initiation and reduce the risk of severe complications. Given the rising prevalence of late-stage syphilis and the availability of advanced diagnostics, improving the methodology for detecting occult changes in the musculoskeletal system is extremely important, contributing to increased treatment efficacy and the prevention of patient disability.

Background. The filaggrin protein, encoded by the FLG gene, is key to maintaining a healthy skin barrier and normal immune system function. Filaggrin loss-of-function mutations are the primary cause of ichthyosis vulgaris, a common dermatological disorder. At the same time, high variability in individual variant frequencies between the studied populations and a large number of repeats in the third exon significantly complicate gene analysis using standard PCR methods. Objective. To examine the spectrum of genetic variants in the FLG gene associated with ichthyosis vulgaris in a cohort of Russian patients using whole-exome sequencing and analysis of publicly available data on this gene’s polymorphism. Material and methods. Clinical examination and molecular genetic testing were performed on 77 patients diagnosed with ichthyosis vulgaris (ICD-10: Q80.0) at the Moscow Scientific and Practical Center of Dermatovenereology and Cosmetology (MSPCDC). Whole-exome sequencing (WES) was done to analyze the coding region of the FLG gene in DNA samples from peripheral blood leukocytes. To analyze the spectrum of genetic variants across the Russian Federation (RF), a database of population frequencies of the RF was used. Results and conclusion. Among 120 762 individuals whose FLG gene variant data were evaluated in the RF population frequency database, 292 different pathogenic and likely pathogenic variants were identified, of which only 78 were registered as pathogenic in the ClinVar database. All detected variants were mapped across the amino acid sequence of the protein with a relative enrichment in the region of filaggrin repeats. The overall carrier frequency of pathogenic variants was 8.0%, of which the 3 most common pathogenic variants (p.Ser761fs, p.Arg2447* and p.Arg501*) accounted for 5.6%. Furthermore, individual allele frequency ratios relative to the gnomAD database varied from 0.06× to 26×, which indicates significant differences in the spectrum of pathogenic variants compared to global statistics. Obtaining whole-exome data for patients with ichthyosis vulgaris allowed us not only to confirm the pathogenicity of the p.Ser761fs variant, identified in 32 of 77 patients, but also to reveal the previously undescribed p.Ser1515* variant. The large number of variants of uncertain significance (2475), most of which are missense substitutions, suggests the need for in vitro functional testing, segregation studies, and comparison of their frequencies among patients with the disease and in the general population from Russia. In addition, there are ongoing doubts in the scientific community regarding the pathogenicity of many nonsense and frameshift mutations. Accordingly, the obtained overall frequency of pathogenic variants may be revised in the future. Thus, in this study, the spectrum of pathogenic variants in the FLG gene was determined for the first time among patients with ichthyosis vulgaris and within a general population sample from Russia.

Increasing incidence of vulvar lichen sclerosus et atrophicus (VLSA), chronic nature of the disease, severity of itching, and late complications with changes in the anatomy of the external genital organs lead to the development of a number of disorders, including psychoemotional and sexual dysfunctions, and significantly deteriorate the quality of life of patients. Long-term use of topical glucocorticosteroids (tGCSs) has a number of side effects, requires patient compliance, and does not ensure long-lasting disease remission. This underscores the urgency of the problem and the need for effective approaches to treating this dermatosis. Objective. To examine the impact of combination therapy with VLSA on quality of life, psychoemotional state and changes in sexual function in women. Material and methods. The study involved 45 women diagnosed with VLSA. Based on the received treatment, patients were divided into 2 groups: group 1 (n=24) and group 2 (n=21). At the 1st stage, patients in both groups received topical GCS therapy for 3 months. At the 2nd stage in group 1, tGCSs were used in a “proactive” mode for 2 months, and patients in group 2 underwent combined laser treatment and plasma therapy. The treatment results were evaluated based on the dynamics of itching using a visual analogue scale and data from scales and questionnaires assessing quality of life, levels of anxiety and depression, and female sexual function 3 and 5 months after the therapy initiation. Results. After 5 months of treatment, statistically fewer women in group 2 reported itching (3/14.5%; p≤0.05), a significant improvement in quality of life (1.9±1.02 points; p≤0.05), a significant decrease in anxiety (2±1.16 points; p≤0.05), improved lubrication, satisfaction, and a decrease in dyspareunia compared to group 1. Conclusion. A comprehensive approach to treating women with VLSA using tGCSs, laser procedures and injection techniques significantly improves clinical outcomes and patient quality of life, positively impacting psychoemotional and sexual aspects of a woman’s life, leading to more effective and extensive treatment.

Introduction. Syphilis is a systemic infection, primarily transmitted sexually, characterized by multiple organ and system lesions. The incidence of syphilis remains high worldwide. Objective. To analyze the dynamics of syphilis incidence as well as the composition of cases in the Russian Federation from 2014 to 2024. Materials and methods. An analysis of federal statistical monitoring data on syphilis incidence in the Russian Federation from 2014 to 2024 was performed. Results. Significant changes in syphilis incidence in the Russian Federation were identified. After a decline in the incidence rate to 10.5 cases per 100 000 population in 2020, an increase in the incidence of syphilis, most significant in the Central, Northwestern and Siberian Federal Districts, was noted by 2022. Increase in migration flows and growth in the population’s demand for medical care after levelling of the medical, social and economic consequences of COVID-19 in 2021—2022 were one of the reasons for the rise in syphilis incidence in the Russian Federation. A significant contribution to the increase in the incidence of syphilis is made by the adult urban population, especially residents of big cities. In Moscow, the vast majority of syphilis cases are detected among foreign citizens, who account for the largest increase in syphilis detection. In presence of a renewed tendency to a decrease in the incidence of syphilis in the Russian Federation as a whole up to 2024, an increase in the incidence of syphilis among adolescents is observed. In recent years, there has been a decrease in the proportion of early forms of syphilis along with an increase in the number of cases of late syphilis. Conclusion. The identified tendencies in syphilis incidence in the Russian Federation emphasize the need for further improvement of organizational measures to prevent the spread of syphilis aimed at strengthening primary and secondary prophylaxis of the disease.

Background. Dermatophytosis is an urgent issue in modern medicine due to its high prevalence and the difficulties associated with diagnosing and treating fungal skin infections. According to the WHO, about 25% of the world’s population suffers from dermatophytosis, and in 30—70% of adults these diseases may be asymptomatic. The problem of fungal diseases is caused by the diversity of transmission routes, the high resistance of pathogens in the external environment, and the individual characteristics of the patient’s immune response. In recent years, there has been an increase in cases of dermatophyte resistance to antifungal drugs. Objective. To examine the epidemiological situation on fungal skin diseases in the Russian Federation for 2020—2024. Materials and methods. The study used data from the annual reporting forms of federal statistical monitoring № 9 (“Information on sexually transmitted infections and contagious skin diseases”) and the “Resources and activities of medical organizations specializing in dermatovenereology. Incidence of sexually transmitted infections, contagious skin diseases and skin diseases in 2024: statistical materials” collection. Statistical and analytical research methods were used for this work. Results. In the Russian Federation, the incidence of dermatophytosis increased by 11.0% between 2020 and 2024. During the five-year observation period, the epidemiological process was characterized by instability and pronounced wave-like dynamics. The incidence rate among women was 10.5% higher than among men. In 2024, the incidence rate among children aged 0—17 years exceeded this indicator among adults by 16.2%, and the incidence rate among the urban population was 2.2 times higher than the incidence rate among the rural population. Conclusion. To improve laboratory diagnosis of dermatomycoses, a paradigm shift, involving the active implementation and widespread use of molecular biology methods in clinical practice, followed by a transition to mass-spectrometric analysis, is needed. At the same time, it is necessary to organize an integrated system for monitoring and screening identification of pathogens, combining the efforts of all involved agencies, as well as to develop standardized protocols for diagnosis and epidemiological surveillance.

Psoriasis and psoriatic arthritis are chronic immune-mediated diseases with a high risk of comorbid conditions, for which the use of genetically engineered biological drugs (GEBD) is the most effective modern approach. Choice of the optimal drug requires considering clinical and demographic factors, treatment line and presence of concomitant diseases. Material and methods. A retrospective analysis of data from 405 patients (268 men, 137 women; mean age 46.7 years) with psoriasis vulgaris (43%) and arthropathic psoriasis (57%) who were receiving GEBD was performed. The distribution by drugs, frequency of efficacy «escape», influence of therapy line and comorbid pathology was evaluated. Statistical processing included the calculation of relative values, medians, interquartile range and correlation analysis. Results. Netakimab was the most frequently prescribed agent (45.4%) with a minimum frequency of therapy «escape» effect equal 12.8%. Among the used classes of drugs, inhibitors of IL-23 (10.3%) and IL-17 (25.3%) had the most stable positive effect; at the same time, TNF-α inhibitors showed the highest frequency of loss of effect (54.9%). The first line of therapy had a median response of 93.0%, which decreased by 2—6 p.p. to the 3rd—4th lines. Metabolic syndrome (40.1%) and cardiovascular diseases (32.1%) were associated with lower response to therapy, especially in application of TNF inhibitors. The IL-17 and IL-23 inhibitors showed stable efficacy even in late administration and in patients with comorbid pathology. Discussion. The obtained results confirm the need for a personalized selection of GEBD considering the diagnosis, line of therapy and profile of comorbid pathology. Drug classes of IL-23 and IL-17 inhibitors are preferred in late lines and in patients with high cardiometabolic risk. Conclusion. The implementation of a stratified approach to the choice of GEBD and early selection of the most effective drug can reduce the risk of «escape» effect and improve long-term treatment results.

Background. Lymphogranuloma venereum (LGV) is a sexually transmitted infection (STI), which is caused by L1-L3 serovars of Chlamydia trachomatis (C. trachomatis-LGV). Clinically, LGV often manifests behind the mask of proctocolitis related to inflammatory bowel diseases, and men who have sex with men (MSM) are susceptible to infection. Cases of LGV in the Moscow region have been registered since 2018. Timely molecular diagnosis of LGV can reduce the incidence of such socially significant diseases as HIV, syphilis and hepatitis C among MSM, and assessment of patients’ behavioral risks in the history taking allows to suspect this diagnosis in men referring with specific clinical manifestations to coloproctologists, gastroenterologists or dermatovenereologists. Objective. To assess the prevalence of infection caused by L1-L3 and D-K serovars of C. trachomatis among MSM in the Moscow region, to study comparatively the socio-behavioral features of patients. Material and methods. During this study, 855 men, residents of Moscow, with inflammatory diseases of the rectum and anal canal, who visited coloproctologist were screened. Patients underwent: proctological examination, testing for the presence of STIs causative agents’ DNA with a real-time polymerase chain reaction, serological assay for HIV, syphilis and viral hepatitis. Socio-behavioral characteristics were evaluated according to the data obtained from the questionnaire. Results. LGV has been revealed in 279 persons, urogenital chlamydia infection of anorectal localization — in 92 persons. All patients with LGV belonged to MSM, significantly more often had group sex compared to the patients with urogenital chlamydia infection, had more than 5 partners in 6 months before health encounter, history of syphilis as well as were HIV-infected. Conclusion. The prevalence of infection caused by L1-L3 and D-K serovars of C. trachomatis has been evaluated among MSM in the Moscow region, socio-behavioral features of patients seeking coloproctological care have been studied comparatively.

Background. M. genitalium (MG) infection causes symptoms that are typical for sexually transmitted infections (STIs) and is widespread. Data on the correlation between MG DNA concentration (bacterial load) and clinical symptoms of the disease are quite rare and controversial. Objective. To study the DNA concentration of M. genitalium in biological material from urogenital tract of patients with MG-infection and its correlation with clinical manifestations of the disease. Material and methods. The object of the study was 257 patients with MG-infection including 204 (79.4%) males and 53 (20.6%) females aged from 16 to 68 years who were under observation in MSPCDC in 2021—2022 yrs. Material of the study — scrapings/discharge from the urogenital tract mucosa of patients. Method of the study — real-time PCR with determination of MG DNA concentration. The MG DNA concentration in patients with MG-infection ranged from 103 to 107; The MG DNA concentration at 104 gEq/mL or less was considered to be relatively low, and relatively high at more than 104 gEq/mL. Results. There has been a significant direct correlation between MG DNA concentration and clinical manifestations of the disease, more severe in males. Significant differences in occurrence frequency of severe clinical symptoms between males and females with high concentration of MG DNA have been found. Conclusion. The concentration of MG DNA in urogenital tract may influence the nature of infection’s clinical course, and it is worth to consider this when assessing disease’s clinical picture and course prognosis.

Background. Infection caused by M. genitalium (MG) is classified as sexually transmitted infections (STIs). At the same time, MG infection is not currently registered at the state level, in this connection data on its prevalence in countries around the world can only be obtained from scientific publications. Objective. To analyze the publications on the epidemiology of MG infection in countries around the world between 2017 and 2024. Material and methods. The search for publications of the PubMed database according to «Mycoplasma genitalium prevalence» keywords during the period from 1988 to 2024 (date of search — 14.08.2024) was performed. A total of 961 publications were found for this date; we analyzed a number of relevant publications (86 in total) on the prevalence of MG infection in the world from 2017 to 2024. Results. MG causes urethritis in men and reproductive tract damage in women. The prevalence of MG in countries around the world in general is not very high and amounts to 1—3.3% men and women in the total population. The indicator of MG infection prevalence among persons from «risk groups» (commercial sex workers, MSM), patients of STIs clinics with symptoms of urethritis, cervicitis, PID is significantly higher, reaching 20—45%. Risk factors for MG infection are young age, early sexual activity, «risky» sexual behavior (sexual promiscuity, neglect of barrier contraception, receptive anal sex), alcohol addiction, smoking, presence and pre-exposure prophylaxis of HIV infection, co-infection by other causative agents of STIs (e.g., C. trachomatis, N. gonorrhoeae), past history of STIs, abnormal vaginal microecology.