| 释义 |
DictionarySeeproteinosislipoid proteinosis
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. Synonym(s): hyalinosis cutis et mucosae, lipoidosis cutis et mucosae, Urbach-Wiethe diseaselipoid 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 convulsionsUrbach, Erich, Austrian-U.S. allergist and dermatologist, 1893-1946. Oppenheim-Urbach disease - see under Oppenheim, MorizUrbach-Oppenheim disease - Synonym(s): Oppenheim-Urbach diseaseUrbach-Wiethe disease - autosomal recessive disorder characterized by disturbance of lipid metabolism. Synonym(s): lipoid proteinosislip·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. |