Vol 24, No 8 (2022)


Darier's follicular dyskeratosis

Adaskevich U.P.


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.

Consilium Medicum. 2022;24(8):497-503
pages 497-503 views

Pruritus in cancer patients as a polyetiological symptom

Michenko A.V., Lvov A.N., Kruglova L.S., Romanov D.V., Kuzma E.A.


Pruritus is one of the subjective sensations that significantly reduces the quality of life of patients. In patients with malignancies, itch can be caused by different universal or specific pathophysiological factors. This article discusses disorders that cause pruritus in cancer patients: the tumor growth on it’s own; pathophysiological changes associated with a number of malignancies, paraneoplastic itch, anticancer therapy, concomitant dermatoses, systemic diseases, psychosomatic disorders. Known or proposed mechanisms of the development of pruritus are presented for each of the mentioned provoking factors, and methods of treatment are described, according to the etiological factor. At the end of the article, universal methods for the correction of itching are presented, applicable in cancer patients, regardless of the pruritogenic factor. Special attention is paid to the correction of xerosis as a universal cause of itching in oncological patients.

Consilium Medicum. 2022;24(8):504-510
pages 504-510 views

Syndrom Parry–Romberg: clinical case of a rare disease

Perlamutrov Y.N., Volkova S.B., Olhovskaya K.B., Godzenko T.A.


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.

Consilium Medicum. 2022;24(8):511-515
pages 511-515 views

Itchy scalp

Katkova K.V., Plieva K.T., Denisova E.V., Zhukova O.V., Korsunskaya I.M.


Itchy scalp troubles many people. The causes of itching can be systemic, psychogenic, neurological, and dermatological diseases. The most common dermatological diseases associated with scalp itching are seborrheic dermatitis and psoriasis. The pathogenesis of these diseases is very different, but in both cases, skin microbiota changes may present, supporting the inflammation. Also, in both conditions, flaking and other similar clinical presentations occur. In addition to adequate therapy, the choice of care product is important. For a patient with scalp disease, the specialist should recommend shampoo and other products that can complement the basic therapy. Such products should have some features: they should help to normalize the microbiota and pH, relieve inflammation, and eliminate unpleasant symptoms, including itching. One such product is LE SANTI shampoo, which shows good clinical efficacy for several dermatological diseases.

Consilium Medicum. 2022;24(8):516-519
pages 516-519 views

Total alopecia and vascular malformation: a random association or a prognostic factor?

Golousenko I.Y., Solovyov A.M., Solovev F.A.


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.

Consilium Medicum. 2022;24(8):520-522
pages 520-522 views

Dermatofibrosarcoma protuberans in dermatological practice. Case report

Katina M.A., Lesnichaya O.V., Ryazanova N.V.


Dermatofibrosarcoma protuberans (DFSP) is a mesenchymal neoplasm of fibrohistiocytic origin of moderate malignancy. The pathogenesis of DFSP involves chromosomal translocation, which leads to the formation of a fusion protein that promotes tumor growth due to increased production of platelet growth factor (PDGF). Clinically, it begins with an asymptomatic fibrous papule or firm plaques, which gradually over the course of several years become enlarged with the formation of asymmetrical multi-nodular structure of purple or red-brown color. The standards of diagnosis is a histological examination with the detection of a poor limited infiltrate indermis of a storiform architecture consisting of monomorphic spindle cells and diffuse CD34+ staining during immunohistochemistry. Complete surgical excision is considered the gold standard of treatment. Clinical case: female patient, 35 years old with a lesion in the form of a dense plaque in right subclavian area was examined by a dermatologist. The primary diagnosis was made as "morphea". In a year a slight growth of the lesion and the appearance of small firm nodules asymmetrically along the periphery were noted. According to the results of histological and immunohistochemistry studies the diagnosis of DFSP was made, the patient was referred to an oncologist for complete tumor removal.

Consilium Medicum. 2022;24(8):523-528
pages 523-528 views

Determination of key prognostic factors for the development of acne recurrence after systemic isotretinoin therapy

Perlamutrov Y.N., Olhovskaya K.B., Solovyov A.M., Lyapon A.O.


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.

Consilium Medicum. 2022;24(8):529-533
pages 529-533 views

TLR9 gene expression in immune cells of patients with psoriasis

Chebysheva S.N., Sobolev V.V., Denisova E.V., Soboleva A.G., Geppe N.A., Korsunskaya I.M.


Background. Psoriasis (skin lesions and psoriatic arthritis – PA) is a chronic inflammatory autoimmune disease that can be triggered by excessive activation of endosomal toll-like receptors (TLRs), mainly TLR9. Elevated TLR9 levels are observed in both PA and psoriasis. Therefore, studying the expression pattern of the TLR9 gene may help select therapies for patients with PA and psoriasis.

Aim. To study the expression pattern of the TLR9 gene in blood mononuclear cells of PA and psoriasis patients without joint involvement for possible use in the transition to targeted therapy.

Materials and methods. Mononuclear cells were isolated from the peripheral blood of 31 patients with psoriasis vulgaris without joint involvement, 45 patients with PA, and 20 healthy volunteers. TLR9 gene expression was analyzed by real-time polymerase chain reaction.

Results. A comparison of expression levels in PA patients and healthy volunteers showed that the expression level of TLR9 in PA patients was 591 times higher than that in healthy volunteers. The expression level of TLR9 in psoriasis patients without joint involvement was also significantly (423-fold) higher than that in healthy subjects.

Conclusion. TLR9 gene expression in mononuclear cells of psoriasis patients with severe skin lesions is similar to that in PA patients. High levels of TLR9 gene expression may be a marker of possible joint involvement in patients with psoriasis and indicate the need to reconsider the therapeutic approach to a particular patient.

Consilium Medicum. 2022;24(8):537-540
pages 537-540 views

Dermatologic masks of Langerhans cell histiocytosis. Case report

Belysheva T.S., Valiev T.T., Murashkin N.N.


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.

Consilium Medicum. 2022;24(8):541-546
pages 541-546 views

PSTPIP1-associated incomplete PAPA syndrome. Case report

Macharadze D.S., Rumyantseva V.A.


PAPA syndrome (Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome) is a rare disease even among infrequent systemic autoinflammatory diseases. The disease is caused by mutations in the PSTPIP1 gene encoding the CD2 antigen binding protein 1, or proline-serine-threonine-phosphatase-interacting protein 1. Little is known about the function of PSTPIP1, presumably, the hyperphosphorylated mutant protein binds more strongly to pyrin, which leads to hyperproduction of interleukin-1. The aim of the study is to describe a clinical case of PAPA syndrome in a 35-year-old woman and to provide current understanding of this disease based on scientific publications. In the domestic literature, we did not find publications on the PAPA syndrome, confirmed by genetic analysis. In adolescence, the patient had arthritis, most often affecting the knee and wrist joints, at the age of 22, cracks appeared on the fingers, and from the age of 33, ulcers with undermined edges on the palms, fingers, and persistent acne on the face and back appeared. Other manifestations included gastrointestinal symptoms, general weakness, dizziness. Differential diagnostics with allergic, gastrointestinal, autoimmune, endocrine and dermatological diseases was carried out, mast cell activation syndrome was excluded. Whole exome sequencing revealed PSTPIP1_A230T mutation. The rarity and phenotypic heterogeneity associated with PAPA syndrome make diagnosis difficult especially in adult patients for physicians. Because most patients do not show the full spectrum of the classic triad, genetic testing is critical to diagnosis.

Consilium Medicum. 2022;24(8):547-551
pages 547-551 views

Fungal sensitization in patients with severe atopic dermatitis as a distinct phenotype

Fomina D.S., Lebedkina M.S., Chernov A.A., Nikitina E.A., Mukhina O.A., Mikhaylova V.I.


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.

Consilium Medicum. 2022;24(8):552-557
pages 552-557 views

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies