Informace o publikaci

Types of congenital nonsyndromic ichthyoses

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PINKOVÁ Blanka BUČKOVÁ Hana BORSKÁ Romana FAJKUSOVÁ Lenka

Rok publikování 2020
Druh Článek v odborném periodiku
Časopis / Zdroj Biomedical Papers, Olomouc: Palacky University
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www https://biomed.papers.upol.cz/pdfs/bio/2020/04/02.pdf
Doi http://dx.doi.org/10.5507/bp.2020.050
Klíčová slova ichthyosis; diagnostics; molecular analysis of DNA; therapy
Popis Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a certain degree. Congenital ichthyoses are caused by various gene mutations. Clinical manifestations of the individual types vary as the patient ages. Currently, the diagnosis of congenital ichthyoses is based on molecular analysis, which also allows a complete genetic counseling and genetic prevention. It is appropriate to refer the patients to specialized medical centers, where the cooperation of a neonatologist, a pediatric dermatologist, a geneticist and other specialists is ensured.

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