Affiliation:
1. National Medical Research Center of Children’s Health; Sechenov First Moscow State Medical University; Central State Medical Academy of Department of Presidential Affairs
2. National Medical Research Center of Children’s Health
3. National Medical Research Center of Children’s Health; Central State Medical Academy of Department of Presidential Affairs
4. National Medical Research Center of Children’s Health; Pirogov Russian National Research Medical University
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 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.
Publisher
Paediatrician Publishers LLC
Subject
Pediatrics, Perinatology and Child Health
Cited by
2 articles.
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