Harlequin baby--a rare case of keratinization disorder.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Peau
/
Femelle
/
Humains
/
Kératinocytes
/
Ichtyose lamellaire
/
Issue fatale
/
Nourrisson
/
Kératines
/
Erreurs innées du métabolisme
langue:
Anglais
Année:
2005
Type:
Article
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