[Netherton syndrome].
The case of a 8 years old girl, who since the delivery had suffered from a generalized, erythematous and scaling eruption of the skin is reported. She also had a sparse, short and brittle hair. Abnormalities such as trichorrhexis nodosa and pilo torti were observed. The finding of a generalized increase of the urinary aminoacids, excretion especially for Glycine and Serine, is added to this features.
D000596:Amino Acids / Q000652:urine; D001706:Biopsy; D002648:Child; D003876:Dermatitis, Atopic / Q000150:complications*; D003873:Dermatitis, Exfoliative / Q000151:congenital*; D005260:Female; D006197:Hair / Q000473:pathology; D006201:Hair Diseases / Q000151:congenital* / Q000652:urine; D006801:Humans; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000151:congenital* / Q000652:urine; D013577:Syndrome
D000596:Amino Acids
Síndrome de Netherton.