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lipoid proteinosis

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  • Lipoid proteinosis — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 30808 ICD10 = ICD10|E|78|8|e|70 ICD9 = ICD9|272.8 ICDO = OMIM = 247100 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 241 MeshID = D008065 Lipoid proteinosis is a hyaline skin… …   Wikipedia

  • lipoid proteinosis — an autosomal recessive disorder of lipid metabolism due to mutation in the ECM1 gene (locus: 1q21), which encodes extracellular matrix protein 1; it is characterized by hyaline deposits in the skin and mucosa of the mouth, pharynx, hypopharynx,… …   Medical dictionary

  • proteinosis lipoide — Eng. Lipoid proteinosis Alteración hereditaria que cursa con la presencia de numerosas tumoraciones xantelásmicas en el margen de los párpados (blefarosis moniliforme), aunque también pueden verse afectadas otras áreas de la piel así como la… …   Diccionario de oftalmología

  • proteinosis — A state characterized by disordered protein formation and distribution, particularly as manifested by the deposition of abnormal proteins in tissues. [protein + G. osis, condition] lipoid p. [MIM*247100] a disturbance of lipid metabolism …   Medical dictionary

  • Urbach-Wiethe disease — lipoid proteinosis …   Medical dictionary

  • hyalinosis cutis et mucosae — lipoid proteinosis …   Medical dictionary

  • ECM1 — Extracellular matrix protein 1, also known as ECM1, is a human gene.cite web | title = Entrez Gene: ECM1 extracellular matrix protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=1893| accessdate = ]… …   Wikipedia

  • Urbach-Wiethe-Syndrom — Das Urbach Wiethe Syndrom (auch Lipoidproteinose oder Hyalinosis cutis et mucosae) ist eine sehr seltene genetisch bedingte Erkrankung (autosomal rezessiv), die mit Hautveränderungen, Schleimhautveränderungen (Heiserkeit) und Verkalkungen der… …   Deutsch Wikipedia

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • lipoidoproteinosis — Eng. Lipoid proteinosis Ver proteinosis lipoide …   Diccionario de oftalmología

  • Urbach-Wiethe disease — Ur·bach Wiethe disease (urґbak veґtə) [Erich Urbach, American dermatologist, 1893–1946; Camillo Wiethe, Austrian otologist, 1888–1949] lipoid proteinosis, see under proteinosis …   Medical dictionary

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