N. Murashkin, L. A. Opryatin, A. Vasilenko, E. T. Ambarchian, R. Epishev, A. I. Materikin, R. A. Ivanov
Background. Pemphigus vulgaris is an autoimmune bullous dermatosis. Its management generally involves lifelong administration of maintenance dose of systemic glucocorticosteroids, that leading to serious adverse effects especially in children. Clinical case description. Patient is the 16 years old boy with severe course of pemphigus vulgaris. The diagnosis was confirmed by the results of cell smear study from fresh erosions (> 50 acantholytic cells were revealed), histological examination of the skin biopsy from the lesion with the vesicle element (suprabasal vesicle was localized in the center, it included fibrin, neutrophil granulocytes, and acantholytic cells), skin biopsy from the area near the lesion (visually healthy skin), via direct immunofluorescence methods (IgG deposition was detected on keratinocytes’ surface throughout the epidermis), and enzyme-linked immunosorbent assay (desmoglein 1 IgG autoantibodies — 121 U/mL (reference value < 20 U/mL) and desmoglein 3 — > 200 U/mL (reference value < 20 U/mL)). Genetically engineered biologic drug, rituximab, and systemic glucocorticosteroid, methylprednisolone, were prescribed as first-line therapy with gradual dose reduction to permanent discontinuation in 8 months. Complete remission maintained after the completion of therapy course and discontinuation of systemic glucocorticosteroid. Conclusion. Combined therapy with systemic glucocorticosteroids and rituximab can be considered as first-line therapy in pediatric patients with pemphigus vulgaris due to relatively low risk of recurrence after rather rapid and complete drugs’ discontinuation.
{"title":"Rituximab in the Management of a Child with Pemphigus Vulgaris: Case Study","authors":"N. Murashkin, L. A. Opryatin, A. Vasilenko, E. T. Ambarchian, R. Epishev, A. I. Materikin, R. A. Ivanov","doi":"10.15690/vsp.v21i5.2456","DOIUrl":"https://doi.org/10.15690/vsp.v21i5.2456","url":null,"abstract":"Background. Pemphigus vulgaris is an autoimmune bullous dermatosis. Its management generally involves lifelong administration of maintenance dose of systemic glucocorticosteroids, that leading to serious adverse effects especially in children. Clinical case description. Patient is the 16 years old boy with severe course of pemphigus vulgaris. The diagnosis was confirmed by the results of cell smear study from fresh erosions (> 50 acantholytic cells were revealed), histological examination of the skin biopsy from the lesion with the vesicle element (suprabasal vesicle was localized in the center, it included fibrin, neutrophil granulocytes, and acantholytic cells), skin biopsy from the area near the lesion (visually healthy skin), via direct immunofluorescence methods (IgG deposition was detected on keratinocytes’ surface throughout the epidermis), and enzyme-linked immunosorbent assay (desmoglein 1 IgG autoantibodies — 121 U/mL (reference value < 20 U/mL) and desmoglein 3 — > 200 U/mL (reference value < 20 U/mL)). Genetically engineered biologic drug, rituximab, and systemic glucocorticosteroid, methylprednisolone, were prescribed as first-line therapy with gradual dose reduction to permanent discontinuation in 8 months. Complete remission maintained after the completion of therapy course and discontinuation of systemic glucocorticosteroid. Conclusion. Combined therapy with systemic glucocorticosteroids and rituximab can be considered as first-line therapy in pediatric patients with pemphigus vulgaris due to relatively low risk of recurrence after rather rapid and complete drugs’ discontinuation.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88159221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background. Microsporia is a zooanthroponotic mycosis of skin and hair caused by fungi genus Microsporum. Microsporia is most common among children, including infants. The microsporia incidence has slow steady increase over recent years. Clinical cases description. Follow-up results of two children of different ages (younger/older than 1 year) with microsporia are presented. Successful management approach is shown. Major limitations of drug therapy in infants as well as common therapeutic errors were analyzed. Conclusion. Diagnosis and management of microsporia in infants and young children is a challenging task. Major errors in microsporia management in patients of these age groups are associated with peculiarities of clinical picture as well as limited variations of drugs that are appropriate for the requirements on efficacy and safety of therapy among young children.
{"title":"Microsporia in Young Children: Clinical Cases","authors":"A. Yakovlev, A. Polonskaya, L. Kruglova","doi":"10.15690/vsp.v21i5.2453","DOIUrl":"https://doi.org/10.15690/vsp.v21i5.2453","url":null,"abstract":"Background. Microsporia is a zooanthroponotic mycosis of skin and hair caused by fungi genus Microsporum. Microsporia is most common among children, including infants. The microsporia incidence has slow steady increase over recent years. Clinical cases description. Follow-up results of two children of different ages (younger/older than 1 year) with microsporia are presented. Successful management approach is shown. Major limitations of drug therapy in infants as well as common therapeutic errors were analyzed. Conclusion. Diagnosis and management of microsporia in infants and young children is a challenging task. Major errors in microsporia management in patients of these age groups are associated with peculiarities of clinical picture as well as limited variations of drugs that are appropriate for the requirements on efficacy and safety of therapy among young children.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"25 1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90937880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
N. Murashkin, L. A. Opryatin, R. Epishev, A. I. Materikin, E. T. Ambarchian, R. A. Ivanov, A. A. Savelova, R. N. Nezhvedilova, L. L. Rusakova
Atopic dermatitis is a common chronic skin disease, its pathogenesis is associated with congenital or acquired deficiency of filaggrin protein. In recent years, extensive evidence on the causes of filaggrin deficiency has been obtained. The structure and functions of this protein are described, that opens new approaches for atopic
{"title":"Filaggrin Defect at Atopic Dermatitis: Modern Treatment Options","authors":"N. Murashkin, L. A. Opryatin, R. Epishev, A. I. Materikin, E. T. Ambarchian, R. A. Ivanov, A. A. Savelova, R. N. Nezhvedilova, L. L. Rusakova","doi":"10.15690/vsp.v21i5.2452","DOIUrl":"https://doi.org/10.15690/vsp.v21i5.2452","url":null,"abstract":"Atopic dermatitis is a common chronic skin disease, its pathogenesis is associated with congenital or acquired deficiency of filaggrin protein. In recent years, extensive evidence on the causes of filaggrin deficiency has been obtained. The structure and functions of this protein are described, that opens new approaches for atopic ","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"32 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76005226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Follicular keratosis (FK) is one of the most common dermatological diseases in children. FK manifests usually in early childhood and worsen frequently, thus, symptoms are more prominent during puberty. The skin of proximal extensors of upper and lower limbs is mainly affected, while skin of cheeks, back and buttocks is affected more rarely. FK is just a cosmetic defect which significantly affects adolescents’ self-esteem and emotional state up to the development of severe depressive syndrome and obsessive conditions accompanied by pathomimia. FK can be associated with other nosologies such as: atopic dermatitis, vulgar ichthyosis, obesity, diabetes mellitus, and even aggravate Down and Noonan syndromes. Spontaneous improvement is still possible with age. We can use topical therapy with emollient, keratolytic, anti-inflammatory drugs, as well as various types of laser and phototherapy to alleviate the disease symptoms. This article provides basic information on etiology, pathogenesis, and treatment of FK with clinical case description.
{"title":"Follicular Keratosis in Adolescents: Diagnostic Features and Cosmetological Aspects of Therapy","authors":"E. Ikonnikova, L. S. Kruglova","doi":"10.15690/vsp.v21i5.2451","DOIUrl":"https://doi.org/10.15690/vsp.v21i5.2451","url":null,"abstract":"Follicular keratosis (FK) is one of the most common dermatological diseases in children. FK manifests usually in early childhood and worsen frequently, thus, symptoms are more prominent during puberty. The skin of proximal extensors of upper and lower limbs is mainly affected, while skin of cheeks, back and buttocks is affected more rarely. FK is just a cosmetic defect which significantly affects adolescents’ self-esteem and emotional state up to the development of severe depressive syndrome and obsessive conditions accompanied by pathomimia. FK can be associated with other nosologies such as: atopic dermatitis, vulgar ichthyosis, obesity, diabetes mellitus, and even aggravate Down and Noonan syndromes. Spontaneous improvement is still possible with age. We can use topical therapy with emollient, keratolytic, anti-inflammatory drugs, as well as various types of laser and phototherapy to alleviate the disease symptoms. This article provides basic information on etiology, pathogenesis, and treatment of FK with clinical case description.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"44 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77376033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
V. V. Ivanchikov, N. Murashkin, E. T. Ambarchian, A. Kuzminova
Background. Annular dermatoses are a group of diseases with major clinical manifestation of rashes of relevant form. This manifestation pattern causes difficulties in diagnosis. The case of rarely diagnosed annular dermatosis is presented: serum siknesslike reaction (SSLR) triggered by the Epstein – Barr virus (EBV). Clinical case description. Patient D., 8 years old girl, noted abdominal pain 3 weeks before hospitalization, and later numerous polymorphic rashes (erythematous macules, urticarial elements), swelling and pain in joints. Self-treatment with non-steroidal anti-inflammatory and systemic antihistamines did not lead to any improvement. The patient was hospitalized in the pediatric department at the place of residence, where the diagnosis “Henoch-Schonlein purpura, mixed type” was established according to the results of physical, laboratory (double increase of ALT and AST, ESR up to 166 mm/h, IgM to EBV), and ultrasound (mesenteric lymph nodes hyperplasia) studies. Systemic glucocorticosteroids have led to improvement, however, few days after the end of the treatment there was relapse of rash and arthralgia. Thus, the girl was administrated to clinical diagnostic center. Patient’s general condition was satisfactory at the time of examination. There were numerous erythematous annular urticarial and macular elements (3–12 cm) on the skin of face, body and limbs. Some foci, as well as some resolved rashes had blue spots with indistinct boundaries that disappeared after compression. Mucous membranes, nails and hair were intact. Subjective symptoms — slight burning around rashes, at palpation — low-intensity pain in the left radiocarpal joint. Blood tests: C-reactive protein concentration increased up to 12 mg/L, ESR up to 26 mm/h, IgG to EBV up to 47.7. Conclusion. During differential diagnosis we should consider the possibility of SSLR development in all pediatric patients with annular rashes associated with arthralgia and/or arthritis, fever, history of drug use (most often beta-lactam antibiotics), recent vaccination or manifestations of viral infection, especially in case of cyanotic spots after rashes resolution and non-specific laboratory parameters.
{"title":"Serum Sickness-Like Reaction Associated with Epstein – Barr Virus: Clinical Case","authors":"V. V. Ivanchikov, N. Murashkin, E. T. Ambarchian, A. Kuzminova","doi":"10.15690/vsp.v21i5.2455","DOIUrl":"https://doi.org/10.15690/vsp.v21i5.2455","url":null,"abstract":"Background. Annular dermatoses are a group of diseases with major clinical manifestation of rashes of relevant form. This manifestation pattern causes difficulties in diagnosis. The case of rarely diagnosed annular dermatosis is presented: serum siknesslike reaction (SSLR) triggered by the Epstein – Barr virus (EBV). Clinical case description. Patient D., 8 years old girl, noted abdominal pain 3 weeks before hospitalization, and later numerous polymorphic rashes (erythematous macules, urticarial elements), swelling and pain in joints. Self-treatment with non-steroidal anti-inflammatory and systemic antihistamines did not lead to any improvement. The patient was hospitalized in the pediatric department at the place of residence, where the diagnosis “Henoch-Schonlein purpura, mixed type” was established according to the results of physical, laboratory (double increase of ALT and AST, ESR up to 166 mm/h, IgM to EBV), and ultrasound (mesenteric lymph nodes hyperplasia) studies. Systemic glucocorticosteroids have led to improvement, however, few days after the end of the treatment there was relapse of rash and arthralgia. Thus, the girl was administrated to clinical diagnostic center. Patient’s general condition was satisfactory at the time of examination. There were numerous erythematous annular urticarial and macular elements (3–12 cm) on the skin of face, body and limbs. Some foci, as well as some resolved rashes had blue spots with indistinct boundaries that disappeared after compression. Mucous membranes, nails and hair were intact. Subjective symptoms — slight burning around rashes, at palpation — low-intensity pain in the left radiocarpal joint. Blood tests: C-reactive protein concentration increased up to 12 mg/L, ESR up to 26 mm/h, IgG to EBV up to 47.7. Conclusion. During differential diagnosis we should consider the possibility of SSLR development in all pediatric patients with annular rashes associated with arthralgia and/or arthritis, fever, history of drug use (most often beta-lactam antibiotics), recent vaccination or manifestations of viral infection, especially in case of cyanotic spots after rashes resolution and non-specific laboratory parameters.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"15 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86145801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background. Psoriasis is a chronic immune-mediated disease with multifactorial nature. It often requires administration of genetically engineered biologic drugs. They have a number of features and risks that depend on various factors. The results of ustekinumab administration as a drug of choice in patients with comorbid metabolic syndrome in a child with Down syndrome, as well as a case of inefficacy of previous biologic therapy with TNFα inhibitors are considered. Clinical cases description. Two clinical cases of ustekinumab administration in children with severe psoriasis have been described. In the first case, we had to choose systemic therapy for the child suffering from Down syndrome and having complex comorbid background: obesity and steatohepatitis. The second case was interesting due to the family history of psoriasis in the patient, who received methotrexate for a long time, and then etanercept with subsequent loss of efficacy and severe disease aggravation without any pathogenetic therapy. Conclusion. Ustekinumab is the favorable genetically engineered biologic drug (according to the studies results and the clinical cases data) for children with severe psoriasis who have comorbid pathologies and who require the change in biologic agent due to its inefficacy.
{"title":"Administration Details of Genetically Engineered Biologic Drug (Ustekinumab) in Children with Psoriasis and Comorbid Metabolic Syndrome or in Case of Previous Biological Therapy Failure: Case Studies","authors":"R. A. Ivanov, N. Murashkin","doi":"10.15690/vsp.v21i5.2458","DOIUrl":"https://doi.org/10.15690/vsp.v21i5.2458","url":null,"abstract":"Background. Psoriasis is a chronic immune-mediated disease with multifactorial nature. It often requires administration of genetically engineered biologic drugs. They have a number of features and risks that depend on various factors. The results of ustekinumab administration as a drug of choice in patients with comorbid metabolic syndrome in a child with Down syndrome, as well as a case of inefficacy of previous biologic therapy with TNFα inhibitors are considered. Clinical cases description. Two clinical cases of ustekinumab administration in children with severe psoriasis have been described. In the first case, we had to choose systemic therapy for the child suffering from Down syndrome and having complex comorbid background: obesity and steatohepatitis. The second case was interesting due to the family history of psoriasis in the patient, who received methotrexate for a long time, and then etanercept with subsequent loss of efficacy and severe disease aggravation without any pathogenetic therapy. Conclusion. Ustekinumab is the favorable genetically engineered biologic drug (according to the studies results and the clinical cases data) for children with severe psoriasis who have comorbid pathologies and who require the change in biologic agent due to its inefficacy.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"14 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78248028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Leonova, N. Murashkin, A. Dvornikov, I. Pronina
Background. Kindler epidermolysis bullosa is orphan, autosomal recessive disease and it is one of the variants of congenital epidermolysis bullosa. Its severe course is characterized by high risk of multifactorial malnutrition, chronic inflammation due to recurrent secondary skin infections, and also bone metabolism disorders, what can lead to disorders in physical development and puberty in children. However, the effect of Kindler epidermolysis bullosa on patients’ physical development and puberty remains unexplored. Clinical case description. Family case of Kindler epidermolysis bullosa was presented in 13 and 12 years old patients, third degree of kinship (maternal, uncle — nephew) with typical clinical manifestations for this disease. The diagnosis was confirmed in both patients via Sanger sequencing and revealing identical pathogenic variants in the FERMT1 gene (two deletions in the compound-heterozygous state — c.778del, p.Q260Kfs*21 and c.1088del, p. L363Wfs*39). Reduced concentrations of testosterone and 25(OH)D were revealed, whereas, increased concentration of adrenocorticotropic hormone — only in the older patient. The concentrations of luteinizing hormone, follicle-stimulating hormone and estradiol in both patients were within the reference values. The younger patient had prepubertal sizes and volume of testicles. Both patients had specific features of psychoemotional state: mood swing with rapid increase in anxiety level in the older patient and difficulties in emotional-volitional regulation in younger one. Conclusion. Patients with Kindler epidermolysis bullosa have high risk of physical development and puberty delay due to its systemic chronic pathological process. Thus, these patients require dynamic follow-up by pediatrician and pediatric endocrinologist.
背景。金德勒大疱性表皮松解症是一种常染色体隐性遗传病，是先天性大疱性表皮松解症的变异之一。其严重病程的特点是多因素营养不良的高风险，复发性继发性皮肤感染引起的慢性炎症，以及骨代谢紊乱，这可能导致儿童身体发育和青春期障碍。然而，Kindler大疱性表皮松解症对患者身体发育和青春期的影响尚不清楚。临床病例描述。金德勒大疱性表皮松解症家族病例主要发生在13岁和12岁，三度亲属关系(母系、叔侄系)，具有本病的典型临床表现。两名患者通过Sanger测序证实了诊断，发现FERMT1基因有相同的致病变异(复合杂合状态的两个缺失- c.778del, p. q260kfs *21和c.1088del, p. L363Wfs*39)。睾酮和25(OH)D浓度降低，而促肾上腺皮质激素浓度升高-仅在老年患者中。两例患者黄体生成素、卵泡刺激素和雌二醇浓度均在参考值范围内。年轻患者的睾丸大小和体积在青春期前。两例患者均具有特定的心理情绪状态特征:老年患者情绪波动剧烈，焦虑水平迅速升高，年轻患者情绪意志调节困难。结论。Kindler大疱性表皮松解症患者由于其全身性慢性病理过程，具有较高的生理发育和青春期延迟风险。因此，这些患者需要儿科医生和儿科内分泌学家的动态随访。
{"title":"Physical Development and Puberty in Related Patients with Kindler Epidermolysis Bullosa: Case Study","authors":"M. Leonova, N. Murashkin, A. Dvornikov, I. Pronina","doi":"10.15690/vsp.v21i5.2454","DOIUrl":"https://doi.org/10.15690/vsp.v21i5.2454","url":null,"abstract":"Background. Kindler epidermolysis bullosa is orphan, autosomal recessive disease and it is one of the variants of congenital epidermolysis bullosa. Its severe course is characterized by high risk of multifactorial malnutrition, chronic inflammation due to recurrent secondary skin infections, and also bone metabolism disorders, what can lead to disorders in physical development and puberty in children. However, the effect of Kindler epidermolysis bullosa on patients’ physical development and puberty remains unexplored. Clinical case description. Family case of Kindler epidermolysis bullosa was presented in 13 and 12 years old patients, third degree of kinship (maternal, uncle — nephew) with typical clinical manifestations for this disease. The diagnosis was confirmed in both patients via Sanger sequencing and revealing identical pathogenic variants in the FERMT1 gene (two deletions in the compound-heterozygous state — c.778del, p.Q260Kfs*21 and c.1088del, p. L363Wfs*39). Reduced concentrations of testosterone and 25(OH)D were revealed, whereas, increased concentration of adrenocorticotropic hormone — only in the older patient. The concentrations of luteinizing hormone, follicle-stimulating hormone and estradiol in both patients were within the reference values. The younger patient had prepubertal sizes and volume of testicles. Both patients had specific features of psychoemotional state: mood swing with rapid increase in anxiety level in the older patient and difficulties in emotional-volitional regulation in younger one. Conclusion. Patients with Kindler epidermolysis bullosa have high risk of physical development and puberty delay due to its systemic chronic pathological process. Thus, these patients require dynamic follow-up by pediatrician and pediatric endocrinologist.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"54 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86313388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
N. Murashkin, K. Avetisyan, R. A. Ivanov, S. Makarova
Congenital ichthyosis is a group (almost 100 clinical variants) of rare genetic skin diseases caused by pathogenic changes in more than 50 genes. Clinical features of ichthyosis, regardless of its genotype, are dry skin, peeling, hyperkeratosis frequently accompanied with erythroderma. These patients have extremely low quality of life due to changes in appearance, discomfort due to itching and functional limitations (pain during walking, impaired hands motor skills and functions due to hyperkeratosis foci in functionally relevant areas), as well as impaired functions of various organs and systems in syndromic forms of disease. Patients need daily skin care and systemic medications. By now, there is no definitive treatment for ichthyosis. Diagnostic difficulties in determining the clinical forms of congenital ichthyosis are associated with their clinical heterogeneity and with similarity in external manifestations. Difficulties in differential diagnosis with other dermatoses are particularly crucial in case of syndromic forms of disease. This review presents the modern classification of ichthyoses, provides data on disease clinical and genetic variants, diagnostic algorithms, treatment methods for patients with this severe disease.
{"title":"Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease","authors":"N. Murashkin, K. Avetisyan, R. A. Ivanov, S. Makarova","doi":"10.15690/vsp.v21i5.2459","DOIUrl":"https://doi.org/10.15690/vsp.v21i5.2459","url":null,"abstract":"Congenital ichthyosis is a group (almost 100 clinical variants) of rare genetic skin diseases caused by pathogenic changes in more than 50 genes. Clinical features of ichthyosis, regardless of its genotype, are dry skin, peeling, hyperkeratosis frequently accompanied with erythroderma. These patients have extremely low quality of life due to changes in appearance, discomfort due to itching and functional limitations (pain during walking, impaired hands motor skills and functions due to hyperkeratosis foci in functionally relevant areas), as well as impaired functions of various organs and systems in syndromic forms of disease. Patients need daily skin care and systemic medications. By now, there is no definitive treatment for ichthyosis. Diagnostic difficulties in determining the clinical forms of congenital ichthyosis are associated with their clinical heterogeneity and with similarity in external manifestations. Difficulties in differential diagnosis with other dermatoses are particularly crucial in case of syndromic forms of disease. This review presents the modern classification of ichthyoses, provides data on disease clinical and genetic variants, diagnostic algorithms, treatment methods for patients with this severe disease.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"26 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82808013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
N. Murashkin, R. Epishev, R. A. Ivanov, A. I. Materikin, L. A. Opryatin, A. A. Savelova, R. N. Nezhvedilova, E. T. Ambarchian, D. V. Fedorov, L. L. Rusakova
Biofilm is the dominant form of skin microbiota organization that provides adhesion and preservation of microorganisms in the skin micro-environment. It is necessary to ensure epidermal barrier function and local immunomodulation. Staphylococcus aureus becomes the major colonizer of skin lesions in case of atopic dermatitis exacerbation, and it also can form the biofilms. S. aureus growth and biofilm formation due to other microbial commensals on the skin of patients with atopic dermatitis leads to chronic output of pro-inflammatory cytokines and later to abnormalities in healthy skin microbiome. The role of microbial biofilm in human’s health makes the skin microbiota an attractive target for therapeutic intervention in various skin diseases.
{"title":"Innovations in Therapeutic Improvement of the Cutaneous Microbiome in Children with Atopic Dermatitis","authors":"N. Murashkin, R. Epishev, R. A. Ivanov, A. I. Materikin, L. A. Opryatin, A. A. Savelova, R. N. Nezhvedilova, E. T. Ambarchian, D. V. Fedorov, L. L. Rusakova","doi":"10.15690/vsp.v21i5.2449","DOIUrl":"https://doi.org/10.15690/vsp.v21i5.2449","url":null,"abstract":"Biofilm is the dominant form of skin microbiota organization that provides adhesion and preservation of microorganisms in the skin micro-environment. It is necessary to ensure epidermal barrier function and local immunomodulation. Staphylococcus aureus becomes the major colonizer of skin lesions in case of atopic dermatitis exacerbation, and it also can form the biofilms. S. aureus growth and biofilm formation due to other microbial commensals on the skin of patients with atopic dermatitis leads to chronic output of pro-inflammatory cytokines and later to abnormalities in healthy skin microbiome. The role of microbial biofilm in human’s health makes the skin microbiota an attractive target for therapeutic intervention in various skin diseases.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"95 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80288025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Localized scleroderma (LS) is an inflammatory sclerosing disease of the skin and subcutaneous tissues associated with its atrophy. Commonly, LS is a benign self-limited disease, although, the chronic form of this disease is recurrent. Particular attention is paid to the research of treatments methods that could eliminate not only immune-mediated mechanisms, but also its outcomes (such as gross cosmetic defects on the face), which negatively affect child’s physical and psycho-emotional development. Recently, fat transplantation efficacy has been studied as it can restore the volume and improve skin quality. This article presents the results of such surgery in a patient (15 years old) with linear form of LS.
{"title":"Face Lesions in En Coup De Sabre Scleroderma in Children: Modern Treatment and Outcomes Improvement","authors":"N. Murashkin, A. A. Savelova, A. R. Misbakhova","doi":"10.15690/vsp.v21i5.2460","DOIUrl":"https://doi.org/10.15690/vsp.v21i5.2460","url":null,"abstract":"Localized scleroderma (LS) is an inflammatory sclerosing disease of the skin and subcutaneous tissues associated with its atrophy. Commonly, LS is a benign self-limited disease, although, the chronic form of this disease is recurrent. Particular attention is paid to the research of treatments methods that could eliminate not only immune-mediated mechanisms, but also its outcomes (such as gross cosmetic defects on the face), which negatively affect child’s physical and psycho-emotional development. Recently, fat transplantation efficacy has been studied as it can restore the volume and improve skin quality. This article presents the results of such surgery in a patient (15 years old) with linear form of LS.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"31 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86271746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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