Evaluation of Patients with Ichthyosis Followed in a Neonatal Intensive Care Unit: A Single Center Experience
Küçük Resim Yok
Tarih
2023
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erciyes Univ Sch Medicine
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Objective: 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.
Açıklama
Anahtar Kelimeler
Ichthyosis, neonatal, syndromic type ichthyosis, nonsyndromic type ichthyosis, genetic
Kaynak
Journal of Clinical Practice and Research
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
45
Sayı
4
