lipoid proteinosis


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Related to lipoid proteinosis: colloid milium

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 is a rare autosomal recessive disorder that presents early in infancy with hoarseness of voice followed by pox like and acne form scars with infiltration and thickening of skin and certain mucous membranes.
Lipoid proteinosis is a rare genetic disease, and a diagnosis can be made on the basis of typical clinical symptoms and verified by histopathology (1, 2).
are only few reports regarding lipoid proteinosis in literature and in this part of the world.
Cassandrini et al., "Lipoid proteinosis: case report and review of the literature," Acta Otorhinolaryngologica Italica, vol.
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.
A British-led team of international researchers showed how mutations in a gene led to the development of lipoid proteinosis, a skin disorder affecting hundreds of families throughout the world, especially common in the northern Cape region of South Africa.
INTRODUCTION: Lipoid proteinosis / URBACH WIETHE DISEASE is a rare metabolic disease of skin inherited by autosomal recessive pattern.
Other research topics included specifically South African subjects, such as reconstructing the history of preliterate peoples of the subcontinent employing blood groups and protein characteristics, oculocutaneous albinism in the black population, TSD in Jewish people, pentosuria, cystic fibrosis, Fanconi's anaemia, fragile X syndrome, the Y chromosome, mitochondrial DNA, haemoglobin variation (haemoglobinopathies) and disorders in the black and Indian populations, keratolytic winter erythema, lipoid proteinosis, intellectual disability, fetal alcohol syndrome, and other rarer conditions.
Two other diseases of interest as differential diagnoses of vocal fold deposits are amyloidosis and lipoid proteinosis (Urbach-Wiethe's disease):