Is It Possible to Diagnose Wilson Disease with a Piece of Skin?

Is It Possible to Diagnose Wilson Disease with a Piece of Skin?

ABSTRACT Renal, skeletal, cardiac, and ophthalmic involvement in Wilson disease (WD) is well known. In this case report, high copper content and ultrastructural findings of skin of a patient with WD accompanied by xerosis are presented.

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Veröffentlicht in:Ultrastructural pathology 2009-01, Vol.33 (6), p.265-268
Hauptverfasser: E refo lu, Mukaddes, Gül, Mehmet, Seyhan, Muammer, Selimo lu, Mukadder Ay e
Format: Artikel
Sprache:eng
Schlagworte:
Child
copper
Copper - analysis
Copper - metabolism
Hepatolenticular Degeneration - complications
Hepatolenticular Degeneration - metabolism
Hepatolenticular Degeneration - pathology
Humans
Male
skin
Skin - chemistry
Skin - metabolism
Skin - pathology
Skin Diseases - etiology
Skin Diseases - metabolism
Skin Diseases - pathology
ultrastructure
Wilson disease
xerosis
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Beschreibung
Zusammenfassung:ABSTRACT Renal, skeletal, cardiac, and ophthalmic involvement in Wilson disease (WD) is well known. In this case report, high copper content and ultrastructural findings of skin of a patient with WD accompanied by xerosis are presented.
ISSN:0191-3123
1521-0758
DOI:10.3109/01913120903348852