Nepali Narayan, Makaju Ramesh Kumar, Sharma Nastu, Bedi Tikka Ramesh Singh, Chawla Chandra Dev
Department of Paediatrics, Kathmandu University Medical School, Kathmandu University Teaching Hospital, Nepal.
Nepal Med Coll J. 2005 Dec;7(2):148-9.
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.
丑角鱼鳞病是一种非常罕见的常染色体隐性遗传的表皮角质化先天性疾病。线粒体中脂质代谢异常以及板层小体形成缺陷是导致角化过度的主要缺陷。产前诊断可通过胎儿皮肤活检等侵入性检查以及超声检查来进行。
