lipoid proteinosis(redirected from Urbach-Wiethe Disease)
Also found in: Acronyms.
a disturbance of lipid metabolism in which there are deposits of a protein-lipid complex on the tongue and sublingual and faucial areas leading to hoarseness and translucent keratotic papillomatous eyelid lesions; autosomal recessive inheritance, frequently with specific intracranial calcifications.
lipoid proteinosisAn AR condition of childhood onset characterized by coalescent aggregates of lipid and mucopolysaccharides, resulting in numerous yellowish plaques, papules, nodules, and induration of skin–pachydermia, eyelids, oropharynx, and larynx with hoarseness, hyperkeratosis of the knees and elbows, hyalinization of blood vessels; calcification of hippocampal gyri, while rare, is pathognomonic and causes the associated convulsions
Urbach,Erich, Austrian-U.S. allergist and dermatologist, 1893-1946.
Oppenheim-Urbach disease - see under Oppenheim, Moriz
Urbach-Oppenheim disease - Synonym(s): Oppenheim-Urbach disease
Urbach-Wiethe disease - autosomal recessive disorder characterized by disturbance of lipid metabolism. Synonym(s): lipoid proteinosis
lip·oid pro·tein·o·sis(lipoyd prōtēn-ōsis) [MIM*247100]
Disturbance of lipid metabolism with deposits of a protein-lipid complex on tongue and sublingual and faucial areas leading to hoarseness and translucent keratotic papillomatous eyelid lesions.