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Vol 25, No 6 (2022)

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Differential diagnosis of Brooke–Spiegler syndrome in a young woman with multiple trichoepitheliomas

Gaydina T.A., Dvornikov A.S., Skripkina P.A., Patsap O.I., Buianova A.A.


Brooke–Spiegler syndrome (Brooke-Spiegler syndrome; OMIM #605041) is a rare, autosomal dominant inherited monogenic disease caused by mutations in gene CYLD with its different penetrance.

It is clinically manifested by the development of multiple neoplasms of skin appendages such as spiradenoma, cylindroma, spiradenocylindroma and trichoepithelioma. Several phenotypic variants with mutations in gene CYLD have been described in the scientific literature. They are classic Brooke–Spiegler syndrome; multiple familial trichoepithelioma syndrome (multiple trichoepitheliomas without cylindromas, spiradenomas, etc.); familial cylindromatosis (multiple cylindromas on the scalp i.e., "turban tumor"); syndrome of multiple spiradenomas or spiradenocylindromas without other neoplasms of the skin appendages. For four diseases associated with CYLD mutations, the prevalence is <1/1 000 000.

The scientific literature describes more than 200 cases of Brooke–Spiegler syndrome, which is more common in women. Phenotypic manifestations of the CYLD mutation are variable, so there is no reliable statistics on the frequency of occurrence of clinical variants of Brooke–Spiegler syndrome. The variety of neoplasms of the skin appendages, the commonality of their histogenesis, the similarity of clinical and histological patterns significantly complicate the diagnosis. Verification of the diagnosis of Brooke–Spiegler syndrome is based on histological examination and sequencing of the CYLD gene.

Russian Journal of Skin and Venereal Diseases. 2022;25(6):5-16
pages 5-16 views

Verrucous epidermal nevi: some aspects of pathogenesis and clinical cases

Okladnikova E.V., Selitskaya O.V.


Verrucous epidermal nevi ― hamartomas of keratinocyte or epidermal appendages, located on the skin or mucous membranes in the form of isolated birthmarks, less often have a linear localization. The pathogenesis of verrucous epidermal nevi has not been fully defined, probably the development of the disease is associated with genetic mutations during embryogenesis and represent a special form of skin mosaicism. Verrucous epidermal nevi are skin pathologies that require attention as potentially dangerous in terms of the development of malignant neoplasms of the skin and due to the possible difficulties in their diagnosis and differential diagnosis.

Analysis of current data on the pathogenesis and differential diagnosis of various forms of verrucous epidermal nevi, presentation of clinical cases of verrucous epidermal nevi.

The article considers two clinical cases of linear verrucous epidermal nevus. Studies of the pathogenesis of WEN have shown the presence of changes in expressed proteins by affected skin cells, such as OGN, NT5C3A, ADD1, OLFML1, DHRS1, CALML5, SAMHD1, SFRP2, SPRR1B and SERPINB13. This may indicate the participation in the development of verrucous epidermal nevi of changes in the p53 signaling pathway, the cellular response to a cytokine stimulus, and disturbances in cell adhesion and differentiation of Th1 and Th2 cells. The presented clinical cases describe linear verrucous epidermal nevus in order to study the diagnosis of the disease, based on the clinical picture. The need for differential diagnosis of various forms of verrucous epidermal nevi is due to their clinical and sometimes histological similarity with other skin formations. Immunohistochemical examination, genetic analysis using sequencing of the affected skin exome, and proteomic analysis of proteins expressed by affected skin cells help to carry out differential diagnosis.

The study of the mechanisms of development of this disease will help not only in differential diagnosis with other skin diseases, but will also allow finding new approaches to its conservative therapy.

Russian Journal of Skin and Venereal Diseases. 2022;25(6):17-23
pages 17-23 views

Difficulties in diagnosing ALK-negative anaplastic large cell lymphoma manifesting from a skin lesion

Bulanova N.V., Semochkin S.V.


Anaplastic large cell lymphoma is a rare form of non-Hodgkin's lymphoma that requires an early diagnosis and urgent therapy due to aggressive tumor process. Clinically, most non-Hodgkin's lymphoma present with lymphoadenopathy and В-symptoms (such as weakness, drowsiness, fatigue, subfebrile fever, profuse night sweats). However, anaplastic large cell lymphoma may present with nonspecific skin lesions with minimal or no B-symptoms. The skin lesions are heterogeneous, which may also delay verification of the diagnosis.

We present a case of widespread anaplastic large cell lymphoma skin lesions mimicking a case of erysipelas, which progressed rapidly from a single rash on the wrist to an extensive lesion of the right breast within 1 month. Prior to verification of the diagnosis, the patient was treated for erysipelas, pyoderma, and herpes zoster with no response to therapy. Immunohistochemical examination of a skin biopsy confirmed the diagnosis of ALK-negative anaplastic large cell lymphoma. At the time of publication, the patient had completed 1 course of the CHOEP regimen, and 6 cycles of the program were planned.

Our case demonstrates the necessity of a broad differential diagnosis of rashes torpid to the current therapy.

Russian Journal of Skin and Venereal Diseases. 2022;25(6):25-32
pages 25-32 views


Assessment of HLA-DRB1 alleles frequencies in patients with pemphigus in Russian population

Olisova O.Y., Shimanovskiy N.L., Dukhanin A.S., Teplyuk N.P., Lepekhova A.A.


BACKGROUND: Pemphigus vulgaris is known to be associated with genetics, immunological and hormonal factors which cause acantholysis resulting in intraepidermal blistering. Moreover, Human class II leukocyte antigen (HLA) alleles are known to be the best-established predisposing factor for its development. Class II HLA alleles vary among racial/ethnic backgrounds.

AIM: we investigated an association between HLA class II DRB1 alleles and pemphigus vulgaris among the Russian population.

MATERIALS AND METHODS: A total of 70 patients with confirmed diagnosis of pemphigus vulgaris were genotyped for HLA class II alleles. HLA class II frequencies were compared with healthy volunteers (n=92). The statistical significance of differences between patients and controls was evaluated using Fisher’s exact test. A single blood sample for HLA typing was obtained from all the subjects. The strength of association between HLA alleles and pemphigus vulgaris was estimated by odds ratio (OR) and 95% confidence intervals (CIs) p <0.01 was considered to be statistically significant. P-values were corrected for multiple comparisons according to the Benjamini–Hochberg method.

RESULTS: We observed that DRB1*4 and DRB1*14 allelic groups were associated with pemphigus vulgaris (41.4% vs 8.7%; OR 2.33 vs 0.34; p=0.000001 and 27.1% vs 6.5%; OR 1.98 vs 0.41; p=0.0004 respectively), while HLA-DRB1*11 and HLA-DRB*15 were negatively associated with pemphigus vulgaris (4.3% vs 21.7%; OR 0.33 vs 1.62; p=0.001 and 5.7% vs 19.6%; OR 0.44 vs 1.5 respectively).

CONCLUSIONS: Our findings suggest, that HLA DRB1*4 and DRB1*14 alleles are genetic markers for pemphigus vulgaris susceptibility, whereas DRB1*11 and HLA-DRB*15 groups appear protective in Russian population.

Russian Journal of Skin and Venereal Diseases. 2022;25(6):33-40
pages 33-40 views

Evaluation of effectiveness of combined supportive treatment for paronychia and pyogenic granulomas, associated with targeted anticancer therapy

Polonskaia A.S., Shatokhina E.A., Kruglova L.S.


BACKGROUND: Paronychia and pyogenic granulomas occur in 10–50% of patients treated with epidermal growth receptor (EGFR) inhibitors. Supportive therapy for periungual lesions is challenging, since these adverse reactions are prone to torpidity and frequent relapses.

AIM: to evaluate the effectiveness of supportive treatment for paronychia and pyogenic granulomas ― dermatologic adverse events of EGFR inhibitors, with a combined cream with betamethasone dipropionate, clotrimazole, gentamicin, and betaxolol solution.

MATERIALS AND METHODS: 16 patients with paronychia and pyogenic granulomas associated with EGFR inhibitor therapy were included in a 12-week open-label prospective study. Paronychia and pyogenic granulomas severity assessment was performed with the NCI-CTCAE v. 5.0, a developed 10-point scale. The intensity of pain was assessed with a visual-analogue scale (VAS). The quality of life was assessed with the Dermatology Life Quality Index (DLQI).

RESULTS: A significant improvement of all parameters (p <0.05) was evaluated from week 1, indicating the effective reduction of dermatologic adverse event objective and subjective symptoms, improvement of patient’s quality of life. By the end of the study, 37.5% of patients had complete resolution of lesions, 62.5% of patients had minimal residual erythema. Decrease of pain sensation in the affected periungual folds was observed throughout the study (p <0.05). DLQI score indicated the "small effect" of paronychia and pyogenic granulomas on patient’s life by the end of the study.

CONCLUSIONS: Supportive treatment of paronychia and pyogenic granulomas with a combined cream with betamethasone dipropionate, clotrimazole and gentamicin and a betaxolol 0.25% solution is effective in the management of paronychia and pyogenic granulomas objective and subjective symptoms, has a high tolerability, allows to improve patient’s quality of life and continue targeted therapy without dose reduction. Long-term maintenance of pain sensation after paronychia and pyogenic granulomas resolution underlines the need for additional treatment options that will improve the effectiveness of pain management.

Russian Journal of Skin and Venereal Diseases. 2022;25(6):41-53
pages 41-53 views

Urticarial vasculitis in patients with chronic hepatitis C virus as an interdisciplinary problem

Teplyakova K.S.


Urticarial vasculitis is a skin disease characterized by recurrent urticarial lesions and histological features of leukocytoclastic vasculitis. Urticarial vasculitis is known to occur in the association with various infectious diseases, including chronic hepatitis C virus. However, the clinical features of urticarial vasculitis associated with hepatitis C virus have not been systematically characterized, which complicates the management of these patients.

This review presents an analysis of published clinical, histological and laboratory findings in patients with urticarial vasculitis in the association with chronic hepatitis C virus, which can be helpful for early diagnosis and optimization of the patient management.

We performed a Pubmed search to identify clinical cases from 1971 to 2022 using the keywords "urticarial vasculitis", "hepatitis C virus infection". According to the inclusion/exclusion criteria, 13 clinical cases of urticarial vasculitis associated with hepatitis C virus were included in the analysis.

Clinical manifestations were urticarial rashes (n=13), associated with residual hyperpigmentation in 8 patients, tenderness/burning ― in 7 patients, and a lesion duration (>24 hours) ― in five patients. Arthralgias were described in 3 patients.

On histological examination, there were fibrinoid necrosis (n=2); leukocytoclasia (n=4); erythrocyte extravasation (n=1); dermis edema (n=2); perivascular infiltrate consisting of neutrophils (n=5), eosinophils (n=4), lymphocytes (n=3), and histiocytes (n=2). Hypocomplementemia was reported in eight patients. The laboratory work revealed cryoglobulinemia (n=9) and positive rheumatoid factor (n=6), which were the characteristic findings in the association of these diseases.

The association of urticarial vasculitis and chronic hepatitis C virus is an important interdisciplinary problem that requires an interaction of dermatologists, allergists, hepatologists, rheumatologists and infectious disease doctors. Histological examination is indicated to differentiate between urticaria and urticarial vasculitis in patients with atypical urticarial lesions. Early detection of chronic hepatitis C virus is necessary for the timely administration of antiviral therapy. The urticarial vasculitis treatment should be selected taking into account their efficacy and the risk of hepatotoxicity.

Russian Journal of Skin and Venereal Diseases. 2022;25(6):55-70
pages 55-70 views

Randomized study of the efficacy of monoclonal antibodies in patients with refractory psoriasis

Olisova O.Y., Nikuradze V.O., Grekova E.V.


BACKGROUND: The main vector of psoriasis therapy is suppression of proliferative activity of keratinocytes, normalization of their differentiation, neutralization of immune inflammation in the dermis and normalization of cytokine balance.

AIM: of the study was to study the efficacy and tolerability of an IL-17A inhibitor (secukinumab) as monotherapy and in combination with methotrexate in patients with moderate and severe psoriasis vulgaris.

MATERIALS AND METHODS: The severity of psoriasis was assessed by the Psoriasis Prevalence and Severity Index (Psoriasis Area and Severity Index, PASI). To assess the damage to the nail plates of the hands and feet in psoriasis, the NAPSI index (Nail Psoriasis Severity Index) was used. In order to assess the quality of life of patients with psoriasis, a Russian-language version of the dermatological quality of life index (DQLI) was used. Patients' quality of life was assessed before the prescribed therapy and at 12 weeks of treatment. Assessment of the severity of itching and its impact on the daily life of patients was carried out according to the Prurindex questionnaire.

RESULTS: All patients were divided into two groups by a randomized method. The first group included 25 patients who received therapy with secukinumab in the age category of 55 (30–67) years. The second group included 25 patients aged 56 (34–69) years of moderate and severe psoriasis who were treated with secukinumab after initiation (300 mg) 150 mg subcutaneously in combination with methotrexate 15 mg intramuscularly for 24 weeks. Thus, in the first group PASI 90 was achieved after 24 weeks ― in 69%, PASI 100 ― in 31% patients; in the second group ― PASI 90 ― in 68%, PASI 100 ― in 32% patients respectively. In both groups, it was possible to maintain clinical remission (PASI ≥90) in 87.3% of patients throughout the year. During therapy in patients of both groups, there was a decrease in DLQI values from 25.6±3.7 to 3.5±3.1 (p <0.01) in the first group and from 23.3±3.7 up to 3.1±2.6 in the second group.

CONCLUSIONS: Treatment of patients with moderate and severe psoriasis vulgaris with secukinumab has shown its high efficacy and safety. Moreover, it was estimated that the combination of secukinumab and methotrexate is comparable in effectiveness to secukinumab monotherapy. It has been established that the use of secukinumab as monotherapy and in combination with methotrexate significantly improves the quality of life of patients with moderate and severe psoriasis vulgaris.

Russian Journal of Skin and Venereal Diseases. 2022;25(6):71-81
pages 71-81 views


Photogallery of diseases of the oral mucosa. Part II

Olisova O.Y., Teplyuk N.P.


Nowadays there are more than 300 types of diseases of the oral mucosa and the red fringe of the lips. The etiology of these lesions is extremely diverse and includes primary and secondary infectious diseases of bacterial, fungal and viral origin, autoimmune diseases, etc. In addition, there are a number of features associated with the age of manifestation of a particular lesion. For example, in childhood, primary rashes with herpes simplex often appear precisely on the oral mucosa. In adults, along with widespread rashes on the skin, it is possible to damage the oral mucosa in Kaposi's sarcoma with predominant localization on the hard palate. In primary and secondary syphilis, rashes on the oral mucosa can often be observed: primary hard chancre, syphilitic tonsillitis, syphilitic papules.

This photo gallery presents images with various lesions of the oral mucosa.

Russian Journal of Skin and Venereal Diseases. 2022;25(6):83-86
pages 83-86 views

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