Lipoid proteinosis: Urbach-Wiethe disease.
Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder in which hyalinized material is deposited in the skin, mucous membranes and brain. Laryngeal changes resulting in hoarseness may be present at birth or in early infancy, often being the first sign of the disease. A typical case is presented.
Cinaz
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Department of Pediatrics, Medical Faculty of Gazi University, Beşevler, Ankara, Turkey.
Güvenir
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Gönlüşen
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D002648:Child; D005260:Female; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000175:diagnosis* / Q000473:pathology; D012867:Skin / Q000473:pathology