PT Journal
AU Pinkova, B
   Buckova, H
   Borska, R
   Fajkusova, L
TI Types of congenital nonsyndromic ichthyoses
SO Biomedical papers
PY 2020
BP 357
EP 365
VL 164
IS 4
DI 10.5507/bp.2020.050
DE ichthyosis; diagnostics; molecular analysis of DNA; therapy
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.
ER