Harlequin baby--a rare case of keratinization disorder.
Article
in English
| IMSEAR
| ID: sea-46881
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Skin
/
Female
/
Humans
/
Keratinocytes
/
Ichthyosis, Lamellar
/
Fatal Outcome
/
Infant
/
Keratins
/
Metabolism, Inborn Errors
Language:
English
Year:
2005
Type:
Article
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