title: Harlequin baby--a rare case of keratinization disorder.
abstract: Harlequin icthyosis is a very rare inborn error of epidermal keratinization with autosomal recessive inheritance. Abnormal lipid metabolism in mitochondria with defective lamellar body formation is the main defect leading to hyperkeratosis. Prenatal diagnosis can be done by invasive procedures such as fetal skin biopsy and also by ultrasonography.
authors.affiliation: Department of Paediatrics, Kathmandu University Medical School, Kathmandu University Teaching Hospital, Nepal. nepalinarayan@yahoo.com
authors.forename: Narayan
authors.initials: N
authors.lastname: Nepali
authors.forename: Ramesh Kumar
authors.initials: RK
authors.lastname: Makaju
authors.forename: Nastu
authors.initials: N
authors.lastname: Sharma
authors.forename: Tikka Ramesh Singh
authors.initials: TR
authors.lastname: Bedi
authors.forename: Chandra Dev
authors.initials: CD
authors.lastname: Chawla
mesh_terms: D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics* / Q000473:pathology; D007223:Infant; D015603:Keratinocytes / Q000276:immunology / Q000473:pathology*; D007633:Keratins / Q000276:immunology; D008661:Metabolism, Inborn Errors; D012867:Skin / Q000473:pathology
chemical_list: D007633:Keratins