Lipoid proteinosis: Urbach‐Wiethe disease
作者:
P Cinaz,
T Güvenir,
G Gönlügen,
期刊:
Acta Pædiatrica
(WILEY Available online 1993)
卷期:
Volume 82,
issue 11
页码: 892-893
ISSN:0803-5253
年代: 1993
DOI:10.1111/j.1651-2227.1993.tb12590.x
出版商: Blackwell Publishing Ltd
关键词: Hoarseness;lipoid proteinosis;skin
数据来源: WILEY
摘要:
Lipoid proteinosis (Urbach‐Wicthe 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 discase. A typical case is presente
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