文献来源:《PediatricOculoplasticSurgery》(SecondEdition)。
LipoidProteinosis类脂蛋白沉着症Lipoidproteinosis,alsoknownashyalinosiscutisetmucosaeandUrbach-Wiethesyndrome,isanautosomalrecessivedisordercausedbymutationsinECM1,anextracellularmatrixglycoproteininvolvedintissuehomeostasis.Thedisorderischaracterizedbytheabnormaldepositionofhyalinematerialintotheskin,oralandlaryngealmucosa,andviscera.Patientsinitiallypresentatbirthorshortlythereafterwithhoarsenessandalow-pitchedcrysecondarytolaryngealinvolvement.Theoralmucousmembranesbe