Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease
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 patient...
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| Format: | Article |
| Language: | English |
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"Paediatrician" Publishers LLC
2022-11-01
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| Series: | Вопросы современной педиатрии |
| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/3032 |
| _version_ | 1797702196485160960 |
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| author | Nikolay N. Murashkin Karine O. Avetisyan Roman A. Ivanov Svetlana G. Makarova |
| author_facet | Nikolay N. Murashkin Karine O. Avetisyan Roman A. Ivanov Svetlana G. Makarova |
| author_sort | Nikolay N. Murashkin |
| collection | DOAJ |
| description | 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 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. |
| first_indexed | 2024-03-12T04:47:40Z |
| format | Article |
| id | doaj.art-1bcfa431546143b8b5041f1b526d8057 |
| institution | Directory Open Access Journal |
| issn | 1682-5527 1682-5535 |
| language | English |
| last_indexed | 2024-03-12T04:47:40Z |
| publishDate | 2022-11-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj.art-1bcfa431546143b8b5041f1b526d80572023-09-03T09:26:49Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352022-11-0121536237710.15690/vsp.v21i5.24592057Congenital Ichthyosis: Clinical and Genetic Characteristics of the DiseaseNikolay N. Murashkin0Karine O. Avetisyan1Roman A. Ivanov2Svetlana G. Makarova3НМИЦ здоровья детей; Первый МГМУ им. И.М. Сеченова (Сеченовский Университет); ЦГМА Управления делами Президента РФНМИЦ здоровья детейНМИЦ здоровья детей; ЦГМА Управления делами Президента РФНМИЦ здоровья детей; РНИМУ им. Н.И. ПироговаCongenital 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 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.https://vsp.spr-journal.ru/jour/article/view/3032врожденный ихтиоздетиклиникапатогенные вариантыгеныдиагностикалечение |
| spellingShingle | Nikolay N. Murashkin Karine O. Avetisyan Roman A. Ivanov Svetlana G. Makarova Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease Вопросы современной педиатрии врожденный ихтиоз дети клиника патогенные варианты гены диагностика лечение |
| title | Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease |
| title_full | Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease |
| title_fullStr | Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease |
| title_full_unstemmed | Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease |
| title_short | Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease |
| title_sort | congenital ichthyosis clinical and genetic characteristics of the disease |
| topic | врожденный ихтиоз дети клиника патогенные варианты гены диагностика лечение |
| url | https://vsp.spr-journal.ru/jour/article/view/3032 |
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