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
