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 ichthyosis, regardless its genotype, are dry skin, peeling, hyperkeratosis frequently accompanied with erythroderma. These patients have extremely low quality life due to appearance, discomfort itching and functional limitations (pain during walking, impaired motor skills functions foci functionally relevant areas), as well various organs systems syndromic forms disease. Patients need daily care systemic medications. By now, there no definitive treatment for ichthyosis. Diagnostic difficulties determining the congenital associated their heterogeneity similarity external manifestations. Difficulties differential diagnosis other dermatoses particularly crucial case This review presents modern classification ichthyoses, provides data on disease variants, diagnostic algorithms, methods this severe