Research Journal of Medical Sciences
ISSN: Online 1993-6095ISSN: Print 1815-9346
Abstract
Harlequin ichthyosis (HI) is a rare and severe genetic disorder marked by extreme skin thickening and abnormal shedding. This case report describes a neonate born to a first‐time mother, presenting classic HI features, with no significant family history of the condition. Despite receiving intensive care, the infant unfortunately succumbed to sepsis and respiratory failure. This report emphasizes the need for early diagnosis, genetic testing, and thorough prenatal screening to enhance the management and prognosis of HI in newborns.
How to cite this article:
G.V. Vinithira Sri, Shreedevi Kori, Dayanand Biradar, Rajasri Yaliwal and Subhashchandra Mudanur. Harlequin Ichthyosis: Insights from a Neonatal Case Report.
DOI: https://doi.org/10.36478/10.36478/makrjms.2024.9.238.240
URL: https://www.makhillpublications.co/view-article/1815-9346/10.36478/makrjms.2024.9.238.240