Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review [PDF]
Clinical Case ReportsHarlequin ichthyosis is a rare, life‐threatening neonatal disorder often mistaken for collodion baby. We report a 37‐week neonate with severe ectropion, eclabium, and thick fissured scales who died on Day 2 despite optimal care.
Ahmed Alanzi +5 more
doaj +4 more sources
Defying the Odds: A Case of Successfully Treated Harlequin Ichthyosis in Lebanon [PDF]
Clinical Case ReportsHarlequin ichthyosis is a rare skin disorder affecting newborns characterized by a scaly skin, flexed limbs, ectropium, and eclabium. The overall incidence of HI is 1 in 300,000 births, with approximately only 200 cases reported worldwide.
Bassel Hamam +6 more
doaj +4 more sources
Clinical Diagnosis and Management Challenges of Harlequin Ichthyosis in a Preterm Neonate: A Case Report From Uganda [PDF]
Case Reports in Dermatological MedicineConclusion: Harlequin ichthyosis remains associated with a high mortality rate, especially in resource-limited settings. Contributing factors include inadequate prenatal diagnostic services, restricted access to essential treatments, and insufficient ...
Munanura Turyasiima +9 more
doaj +3 more sources
Video Demonstration of ABCA12‐Related Harlequin Ichthyosis in a Low‐Resource Setting: Case Report and Review of Early Management Challenges [PDF]
Clinical Case ReportsHarlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention ...
Chukwuka Elendu +6 more
doaj +3 more sources
Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis [PDF]
Clinical Case ReportsHarlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond‐shaped plates that cover a significant portion of their bodies ...
Nadia Soltani +5 more
doaj +3 more sources
Anesthetic Management of a Patient with Harlequin Ichthyosis [PDF]
Case Reports in Anesthesiology, 2021 Harlequin ichthyosis is a severe and often fatal form of congenital ichthyosis caused by defective lipid transport which results in a dysfunctional skin barrier.
Klint J. Smart +2 more
doaj +3 more sources
Harlequin Ichthyosis: report of three cases
GAIMS Journal of Medical Sciences, 2022 Harlequin Icthyosis is the most severe form of congenital Icthyosis. It characteristically presents as large thickened plate like scaly skin lesions over whole body at the time of birth. Few patients survive beyond neonatal period.
Rekha Thaddanee +2 more
doaj +4 more sources
Congenital heart disease in harlequin ichthyosis: Case series [PDF]
Journal of Family Medicine and Primary Care, 2019 Harlequin ichthyosis (HI) is the most severe form of congenital ichthyosis and inherited in an autosomal recessive manner. The disease is marked by severe thickened and scaly skin on the entire body.
Bhupendra Verma +3 more
doaj +3 more sources
Harlequin Ichthyosis: Case Series
Gynecology Obstetrics & Reproductive MedicineObjective: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. Some risk factors include preterm births and consanguinity.
Huriye Ezveci +3 more
doaj +3 more sources
Harlequin ichthyosis: Case report
Journal of Research in Medical Sciences, 2013 Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births.
Shahrbanoo Salehin +3 more
doaj +3 more sources