Sudden Cardiac Arrest in an Adolescent with X-Linked Ichthyosis

MUTLU H., Kayıhan C., Ay A., HAVAN M., RAMOĞLU M. G., UÇAR T., ...Daha Fazla

Anatolian Journal of Cardiology, cilt.29, sa.6, ss.321-323, 2025 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 6
  • Basım Tarihi: 2025
  • Doi Numarası: 10.14744/anatoljcardiol.2025.4903
  • Dergi Adı: Anatolian Journal of Cardiology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.321-323
  • Ankara Üniversitesi Adresli: Evet

Özet

X-linked ichthyosis (XLI) is characterized by abnormal desquamation, presenting with dry and scaly skin. It is caused by a deficiency of the steroid sulfatase enzyme, encoded by the steroid sulfatase (STS) (Xp22.3) gene. Steroid sulfatase cleaves sulfate groups from multiple steroid hormones, affecting their bioavailability. With an incidence of 1 in 2500 to 1 in 6000 males, XLI is the second most common type of ichthyosis, following ichthyosis vulgaris. These patients may have extracutaneous comorbidities, including cryptorchidism, corneal opacities, Dupuytren’s contracture, cardiac arrhythmias, bleeding disorders, and neurodevelopmental and psychiatric conditions. This case report describes an adolescent with an STS deletion identified after a sudden cardiac arrest.