Types of congenital nonsyndromic ichthyoses
| Authors | |
|---|---|
| Year of publication | 2020 |
| Type | Article in Periodical |
| Magazine / Source | Biomedical Papers, Olomouc: Palacky University |
| MU Faculty or unit | |
| 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. |