J 2020

Types of congenital nonsyndromic ichthyoses

PINKOVÁ, Blanka, Hana BUČKOVÁ, Romana BORSKÁ and Lenka FAJKUSOVÁ

Basic information

Original name

Types of congenital nonsyndromic ichthyoses

Authors

PINKOVÁ, Blanka (203 Czech Republic, guarantor, belonging to the institution), Hana BUČKOVÁ (203 Czech Republic, belonging to the institution), Romana BORSKÁ (203 Czech Republic, belonging to the institution) and Lenka FAJKUSOVÁ (203 Czech Republic, belonging to the institution)

Edition

Biomedical Papers, Olomouc: Palacky University, Olomouc, Palacky University, 2020, 1213-8118

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30209 Paediatrics

Country of publisher

Czech Republic

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

Impact factor

Impact factor: 1.245

RIV identification code

RIV/00216224:14110/20:00118031

Organization unit

Faculty of Medicine

DOI

UT WoS

000604951200002

Keywords in English

ichthyosis; diagnostics; molecular analysis of DNA; therapy

Tags

Tags

International impact, Reviewed
Změněno: 27/1/2021 10:12, Mgr. Tereza Miškechová

Abstract

V originále

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.