lipoid proteinosis

(redirected from hyalinosis cutis et mucosae)

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 (LP), also known as Hyalinosis cutis et mucosae or Urbach-Wiethe disease, is an uncommon, autosomal, recessively inherited disorder.
DISCUSSION: Hyalinosis cutis et mucosae is a rare autosomal recessive disorder due to mutations in the extracellular matrix protein 1 (EMC 1) gene.
Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae, was first described by a Viennese dermatologist and otorhinolaryngologist, Urbach and Wiethe, in 1929 (1).