Evaluation of Patients with Ichthyosis Followed in a Neonatal Intensive Care Unit: A Single Center Experience

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dc.authoridDeveci, Mehmet Fatih/0000-0002-3328-4156;
dc.authorwosidDeveci, Mehmet Fatih/IYS-3534-2023
dc.authorwosidGökçe, İsmail Kürşad/ABI-8128-2020
dc.contributor.authorDeveci, Mehmet Fatih
dc.contributor.authorAtes, Kubra
dc.contributor.authorAlagoz, Meral
dc.contributor.authorTekedereli, Ibrahim
dc.contributor.authorGokce, Ismail Kursad
dc.contributor.authorAslan, Mehmet
dc.contributor.authorOzdemir, Ramazan
dc.date.accessioned2024-08-04T20:11:44Z
dc.date.available2024-08-04T20:11:44Z
dc.date.issued2023
dc.departmentİnönü Üniversitesien_US
dc.description.abstractObjective: Ichthyosis is a keratinization disorder that is characterized by a defective skin barrier and inability to retain water in the skin. Ichthyosis is extremely rare and mostly hereditary, and its manifestations typically involve dryness, scaling, and hyperkeratosis. Moreover, different clinical findings may be observed depending on the concomitant anomalies. Patients with ichthyosis should be protected from infection and hypernatremic dehydration during the neonatal period. After diagnosis, patients with ichthyosis should be screened for concomitant genetic disorders and their families should be referred to genetic counseling. Materials and Methods: In this study, ichthyosis cases observed in our neonatal intensive care unit were retrospectively evaluated. We analyzed the genetic analyses and demographic and clinical data of patients hospitalized in our unit over the past 9 years. Results: Three of the 24 patients evaluated expired during the neonatal period. Genetic analysis was performed on 10 patients, with 8 exhibiting a pathogenic variant. Four of these cases were diagnosed with syndromic ichthyosis, whereas four were nonsyndromic. Conclusion: Patients with ichthyosis need to be diagnosed early and subsequently screened for accompanying anomalies. In managing this disorder, genetic analysis and counseling are as important as proper skin care, hydration, and infection prevention and should not be overlooked.en_US
dc.identifier.doi10.14744/cpr.2023.87597
dc.identifier.endpage339en_US
dc.identifier.issn2980-2156
dc.identifier.issue4en_US
dc.identifier.startpage335en_US
dc.identifier.trdizinid1252058en_US
dc.identifier.urihttps://doi.org/10.14744/cpr.2023.87597
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/1252058
dc.identifier.urihttps://hdl.handle.net/11616/92969
dc.identifier.volume45en_US
dc.identifier.wosWOS:001014585100001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.publisherErciyes Univ Sch Medicineen_US
dc.relation.ispartofJournal of Clinical Practice and Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectIchthyosisen_US
dc.subjectneonatalen_US
dc.subjectsyndromic type ichthyosisen_US
dc.subjectnonsyndromic type ichthyosisen_US
dc.subjectgeneticen_US
dc.titleEvaluation of Patients with Ichthyosis Followed in a Neonatal Intensive Care Unit: A Single Center Experienceen_US
dc.typeArticleen_US

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