Karine AvetisyanNational Medical Research Center of Children’s Health, Russia
Title: Clinical and genetic phenotypes and immunological aspects of congenital ichthyosis
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. Our study presents the modern classification of ichthyoses, provides data on disease clinical and genetic variants, diagnostic algorithms and treatment methods for patients with this severe disease.
Karine Avetisyan is currently working on a dissertation on congenital ichthyosis in the National Medical Research Center of Children’s Health, Moscow. She has about 10 publications that are successfully cited. She is a member of the Russian and International Association of Allergology and Immunology. She has about 25 years of medical practice. She is a speaker at Russian and international congresses, including EAACI, and is active in the profession.