Harlequin baby--a rare case of keratinization disorder.
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.
Nepali
Narayan
N
Department of Paediatrics, Kathmandu University Medical School, Kathmandu University Teaching Hospital, Nepal. nepalinarayan@yahoo.com
Makaju
Ramesh Kumar
RK
Sharma
Nastu
N
Bedi
Tikka Ramesh Singh
TR
Chawla
Chandra Dev
CD
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
D007633:Keratins