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.
Farlex Partner Medical Dictionary © Farlex 2012

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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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
Medical Eponyms © Farlex 2012

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.
Medical Dictionary for the Dental Professions © Farlex 2012
References in periodicals archive ?
1929 mucosae." [1, 2] It has been known by several terms such as "Urbach-Weithe disease," "lipoglycoproteinosis," "lipid proteinosis," and "hyalinosis cutis et mucosae." [3, 4] Molecular genetic studies of LP patients have revealed that mutations in the ECM1 gene located on chromosome 1q21.2 are responsible for this disease.
Hyalinosis cutis et mucosae, also named LP or Urbach-Wiethe disease, is a very rare disorder of autosomal recessive inheritance.
Lipoid proteinosis is also known as hyalinosis cutis et mucosae, Urbach-Wiethe disease.
Urbach-Wiethe disease (lipoglycoproteinosis, lipoid proteinosis, hyalinosis cutis et mucosae): a review.
Lipoid proteinosis (LP), also known as Hyalinosis cutis et mucosae or Urbach-Wiethe disease, is an uncommon, autosomal, recessively inherited disorder.
Lipoid proteinosis (LP), also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae, is a rare autosomal-recessive disease, with less than 400 cases reported to date [1-3].
Peris, "Hyalinosis cutis et mucosae: a 30 year follow up of a female patient," European Journal of Dermatology, vol.
Hyalinosis cutis et mucosae. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1995; 80:167-171.
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).
Lipoid proteinosis, which is also known in the literature as Urbach- Wiethe disease and hyalinosis cutis et mucosae, is a rare autosomal-recessive anomaly that primarily affects children.
Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae).
DISCUSSION: Hyalinosis cutis et mucosae is a rare autosomal recessive disorder due to mutations in the extracellular matrix protein 1 (EMC 1) gene.