PT  - JOURNAL ARTICLE
AU  - Pinkova, Blanka
AU  - Buckova, Hana
AU  - Borska, Romana
AU  - Fajkusova, Lenka
TI  - Types of congenital nonsyndromic ichthyoses
DP  - 2020 Dec 15
TA  - Biomedical papers
PG  - 357--365
VI  - 164
IP  - 4
AID - 10.5507/bp.2020.050
IS  - 12138118
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.