PINKOVÁ, Blanka, Hana BUČKOVÁ, Romana BORSKÁ and Lenka FAJKUSOVÁ. Types of congenital nonsyndromic ichthyoses. Biomedical Papers, Olomouc: Palacky University. Olomouc: Palacky University, 2020, vol. 164, No 4, p. 357-365. ISSN 1213-8118. Available from: https://dx.doi.org/10.5507/bp.2020.050.
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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
Original language English
Type of outcome Article in a journal
Field of Study 30209 Paediatrics
Country of publisher Czech Republic
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 1.245
RIV identification code RIV/00216224:14110/20:00118031
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.5507/bp.2020.050
UT WoS 000604951200002
Keywords in English ichthyosis; diagnostics; molecular analysis of DNA; therapy
Tags 14110212, 14110317, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 27/1/2021 10:12.
Abstract
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.
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