lipoid proteinosis

(redirected from Urbach-Wiethe Disease)
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lip·oid pro·tein·o·sis

[MIM*247100]
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 proteinosis

 An 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.
References in periodicals archive ?
Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal-recessive anomaly that primarily affects the skin and the mucosa of the upper aerodigestive tract in children.
Lipoid proteinosis (Urbach-Wiethe disease, hyalinosis cutis et mucosae) is an autosomal-recessive condition with variable penetrance.
Feinstein and colleagues work with SM and other patients who suffer from a rare genetic disorder called Urbach-Wiethe disease. In late childhood, this disease destroys the amygdala, a pair of almond-shaped structures deep in the brain.
SM has an unusual genetic disorder called Urbach-Wiethe disease. In late childhood, this disease destroyed both sides of her amygdala, which is composed of two structures the shape and size of almonds, one on each side of the brain.