Vol 24, No 8 (2022)

Darier's follicular dyskeratosis (synonym: Darier’s disease, Darier–White’s disease) is a rare genetic disease with an autosomal dominant type of inheritance, which belongs to the group of acantholytic dermatoses and is characterized by a violation of keratinization processes with lesions of the skin, nails, mucous membranes of the oral cavity and genitals. Darier’s disease is caused by a mutation in the ATP2A2 gene. This disrupts the operation of the SERCA2 pump and leads to a violation of calcium homeostasis in keratinocytes and a decrease in intercellular adhesion. Darier’s disease is manifested by brownish papules in seborrheic and intertriginal areas with a keratotic surface, which can merge into macerated plaques. Typical nail changes in Darier’s disease include red and white longitudinal stripes ending in V-shaped notches on the free edge of the nail plates. Warty acrokeratosis, as well as bullous, hemorrhagic, comedonic and linear-segmental types are clinical variants of Darier’s disease. Darier’s disease is often associated with neuropsychiatric disorders. Exacerbation may be caused by superinfection with Staphylococcus aureus or by herpes simplex virus. Histology in Dariere’s disease is characterized by pronounced dyskeratosis. For local therapy, keratolytic agents are important, as well as antiseptic treatment to avoid superinfection. In addition, local corticosteroids are used. Among the systemic methods of treatment, the systemic retinoids are the most effective. Ablative methods of treatment (dermabrasion, CO₂ laser, Er:YAG laser) are effective in limited areas.

The article is devoted to Parry–Romberg syndrome, one of the rare diseases. Here we declare contemporary views on predisposing factors, pathogenesis and character of clinical performance. We describe the methods of differential diagnostics, the criteria of diagnostics as well as contemporary treatment methods. We also describe a case history of the disease.

Background. Alopecia areata (AA) is a chronic recurrent autoimmune disease that leads to a deterioration in the quality of life. And capillary malformation (CM) occurs in 1/3 of AA patients.

Aim. To identify the connection of one of the forms of AA with CM in the occipital region.

Materials and methods. 18 patients with total alopecia (TA), 5 men and 13 women were under observation. The age ranged from 26 to 58 years, the duration of the disease ranged from 1 to 29 years. To determine the relationship between CM and TA, the odds ratio was used with the corresponding 95% confidence intervals.

Results. The study showed the occurrence of CM in patients with TA in 94.4%. The correlation of CM and TA turned out to be statistically significant in comparison with the control group.

Conclusion. The results indicate that there is a reliable relationship between CM and TA, which allows us to conclude that CM is associated with severe forms of alopecia. In addition, CM can be a valuable marker and prognostic factor indicating the development of more severe forms and course of AA.

Since the 80s of the last century, the most effective drug for the treatment of acne is systemic isotretinoin (SI). The introduction of SI into practice makes it possible to achieve stable clinical remission or complete recovery in 80% of acne patients, regardless of the severity of the disease, however, 20% of patients may experience relapses in the next 1.5–2 years.

Aim. To establish the factors determining the likelihood of acne recurrence after a course of therapy using the systemic isotrtinoin.

Materials and methods. After examining 275 patients, 84 patients (50 women and 34 men) who had previously been treated with SI for acne took part in the study, 54 of them had relapses for at least 4 months and the comparison group consisted of 30 patients out of 221 surveyed who did not have relapses after treatment. As part of the study, a retrospective analysis of outpatient records was carried out, data on the history of life and illness, comorbid hormonal pathology in women, anthropometric characteristics were recorded, and the presence of heredity for acne was also taken into account, the severity of acne was assessed using the Investigator's Global Assessment scale; laboratory examination was performed to exclude insulin resistance.

Results. The development of relapses after the first course of acne treatment using SI was registered in 19.63%, however, indications for a second course of treatment were stated in 12.00%. The analysis of the data obtained allowed us to determine the main factors that contributed to the development of relapses: severe acne severity, the presence of rashes on the trunk, body mass index more than 25, the presence of hormonal abnormalities in women, scarification, male sex, daily dose less than 0.5 mg/kg, the presence of heredity for acne in both parents, the course dose of SI<120 mg/kg, insulin resistance.

Conclusion. The issue of studying the factors that can cause the development of acne recurrence after the end of the course of therapy is an extremely urgent problem, due to the fact that taking them into account at the early stages of treatment of patients will increase the percentage of patients with complete clinical remission or recovery.

Langerhans cell histiocytosis (LCH) is a rare pathology in pediatric age with heterogeneous clinical presentation in skeletal system, skin, central nervous system, liver, spleen, lungs, lymph nodes and bone marrow. Therefore, a number of diagnostic mistakes increase and inadequate therapy administrates. For a diagnostic period, a try at treatment, LCH disseminates with organs and systems involvement and at the moment of morpho-immunologic diagnosis verification, a disease characterizes as multiorgan multiple site affection, which decreased survival rate. In the current issue a clinical case of LCH with mistaken prolonged (2 year) atopic dermatitis anamneses is presented. The absence of pronounced effect of topical therapy along with nontypical for atopic dermatitis became not an indication for skin biopsy. After appearance of systemic symptoms with anemia, leuko- and thrombocytopenia became an evidence for pediatric oncologist-hematologist consultation.

Background. Many factors influence the development of atopic dermatitis (AD): genetic, environmental (including exposure to allergens), skin barrier damage, and activation of the T2-pathway immune response. Patients with AD, including those with severe disease, are prone to sensitization to various allergens, including fungal ones. Fungal sensitization (FS) promotes autoreactivity to the body's own structures due to shared epitopes with homologous fungal allergens. It can contribute to the development of allergic diseases, including AD, asthma, and rhinitis, as well as to their exacerbation and uncontrolled course. Since FS can be considered a factor aggravating AD, it is relevant to distinguish patients with FS and AD into a separate phenotype.

Aim. To characterize the phenotype of patients with severe AD and FS using retrospective data analysis from a digital analytics platform in a real-world clinical setting.

Materials and methods. A retrospective observational single-center study was conducted between 01.06.2017 and 01.07.2022. The study cohort included 88 patients with severe AD who were candidates for therapy or received treatment with either dupilumab or upadacitinib. FS was confirmed in 49 patients from the study group. Part of the cohort without FS (n=39) was used as a comparison group. Inclusion criteria: the age over 18 years old; severe AD (SCORAD>40 points at the beginning of therapy); determination of specific immunoglobulin E to a panel of fungal allergens or individual fungi (or by the ImmunoCAP ISAC method to fungal allergen components). A digital analytics platform was used to generate primary data.

Results. The phenotype of a patient with severe AD and confirmed FS was described. The patient profile is characterized by an extended sensitization spectrum (at least 3–4 allergen groups) with the most typical combination of pollen, epidermal, and FS. If there is a food allergy, it is of the classic "big eight" nature. Besides exacerbation of the skin disorder, its manifestations include angioedema of life-threatening localization and bronchospasm. Markers of T2 inflammation (high levels of immunoglobulin E and blood eosinophilia) are observed according to the test results, and the T2 endotype of allergy-related abnormalities is typical.

Conclusion. Apparently, the presence of FS in patients with AD may exacerbate parenteral sensitization mechanisms, expanding its spectrum, including food allergens. Therefore, distinguishing the phenotype of severe AD with FS needs further detailing with a subsequent adaptation of monitoring and treatment methods of severe AD.