Modern view of the problem of non-syndromic ichthyosis

Yusupova L.A., Garaeva Z.Sh., Yunusova E.I., Mavlyutova G.I.

Kazan State Medical Academy – Branch Campus of the RMACPE, Kazan, Russia

Non-syndromic ichthyosis is a genetically determined disorder of keratinization, characterized by universal skin desquamation. The most common type is ichthyosis vulgaris, which is caused by autosomal semi-dominant mutations of filaggrin. Recessive X-linked ichthyosis is more common in boys and is caused by steroid sulfatase deficiency. Autosomal recessive congenital ichthyosis is genetically very heterogeneous. The most common cause is transglutaminase deficiency type 1. Keratinopathic ichthyoses, such as epidermolytic ichthyosis, are caused by mutations in keratin genes. They are evident at birth and often accompanied by blistering. Most of these types are inherited as autosomal dominant traits, but autosomal recessive forms can also occur. The characteristic clinical manifestations of non-syndromic ichthyoses, the heterogeneous clinical course and the imperfect correlation between phenotype and genotype make diagnosis difficult. At the same time, accurate molecular diagnostics are crucial for prognosis and the provision of appropriate genetic counseling. Most non-syndromic ichthyoses have a significant impact on the quality of life of patients and, in severe cases, can lead to significant disability and loss of ability to work. A better understanding of the molecular mechanisms underlying these diseases is necessary to develop innovative therapeutic solutions focused on pathogenesis and taking into account individual patient characteristics.

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About the Authors

Luiza A. Yusupova, Dr. Sci. (Med.), Professor, Head of the Department of Dermatovenereology and Cosmetology, Kazan State Medical Academy – Branch Campus of the RMACPE, Kazan, Russia; yuluizadoc@hotmail.com, ORCID: https://orcid.org/0000-0001-8937-2158, eLibrary SPIN: 5743-6872 (corresponding author)
Zukhra Sh. Garayeva, Cand. Sci. (Med.), Associate Professor, Department of Dermatovenereology and Cosmetology, Kazan State Medical Academy – Branch Campus of the RMACPE, Kazan, Russia; garaeva-zuhra@rambler.ru, ORCID: https://orcid.org/0000-0001-9096-0563, eLibrary SPIN: 3156-8170
Elena I. Yunusova, Cand.Sci. (Med.), Associate Professor, Department of Dermatovenereology and Cosmetology, Kazan State Medical Academy – Branch Campus of the RMACPE, Kazan, Russia; elenaiu@mail.ru, ORCID: https://orcid.org/0000-0002-4550-9578, eLibrary SPIN: 8514-0058
Guzel I. Mavlyutova, Cand. Sci. (Med.), Associate Professor, Department of Dermatovenereology and Cosmetology, Kazan State Medical Academy – Branch Campus of the RMACPE, Kazan, Russia; guzel.mavljutova@yandex.ru, ORCID: https://orcid.org/0000-0002-4652-8869, eLibrary SPIN: 3427-8924

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