LIPOID PROTEINOSIS - URBACH-WIETHE DISEASE

Authors
CINAZ P GUVENIR T GONLUSEN G
Citation
P. Cinaz et al., LIPOID PROTEINOSIS - URBACH-WIETHE DISEASE, Acta paediatrica, 82(10), 1993, pp. 892-893
Citations number
9
Categorie Soggetti
Pediatrics
Journal title
Acta paediatrica → ACNP
ISSN journal
08035253
Volume
82
Issue
10
Year of publication
1993
Pages
892 - 893
Database
ISI
SICI code
0803-5253(1993)82:10<892:LP-UD>2.0.ZU;2-N
Abstract
Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessi ve disorder in which hyalinized material is deposited in the skin, muc ous membranes and brain. Laryngeal changes resulting in hoarseness may be present at birth or in early infancy, often being the first sign o f the disease. A typical case is presented.