Publication details

Types of congenital nonsyndromic ichthyoses

Authors

PINKOVÁ Blanka BUČKOVÁ Hana BORSKÁ Romana FAJKUSOVÁ Lenka

Year of publication 2020
Type Article in Periodical
Magazine / Source Biomedical Papers, Olomouc: Palacky University
MU Faculty or unit

Faculty of Medicine

Citation
Web https://biomed.papers.upol.cz/pdfs/bio/2020/04/02.pdf
Doi http://dx.doi.org/10.5507/bp.2020.050
Keywords ichthyosis; diagnostics; molecular analysis of DNA; therapy
Description 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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