Harlequin baby--a rare case of keratinization disorder
Nepali, N.; Makaju, R.K.; Sharma, N.; Bedi, T.R.S.; Chawla, C.D.
Nepal Medical College Journal Nmcj 7(2): 148-149
2005
ISSN/ISBN: 2676-1319 PMID: 16519086 Document Number: 594521
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.
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