RT Journal Article
SR Electronic
A1 Pinkova, Blanka
A1 Buckova, Hana
A1 Borska, Romana
A1 Fajkusova, Lenka
T1 Types of congenital nonsyndromic ichthyoses
JF Biomedical papers
YR 2020
VO 164
IS 4
SP 357
OP 365
DO 10.5507/bp.2020.050
UL https://biomed.papers.upol.cz/artkey/bio-202004-0002.php
AB 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.