Harlequin baby--a rare case of keratinization disorder.
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Piel
/
Femenino
/
Humanos
/
Queratinocitos
/
Ictiosis Lamelar
/
Resultado Fatal
/
Lactante
/
Queratinas
/
Errores Innatos del Metabolismo
Idioma:
Inglés
Año:
2005
Tipo del documento:
Artículo
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