title: Lipoid proteinosis of larynx: review of four cases.
abstract: Lipoid proteinosis is a rare autosomal recessive disorder characterized by intercellular deposition of an amorphous hyaline material. It mainly involves skin and mucosal membranes of upper aerodigestive tract as well as central nervous system, lung, lymph nodes and striated muscles. Etiology and pathogenesis are unknown. Infantile hoarseness is a common presenting feature of the disease due to infiltration of larynx. In two-thirds of the cases, voice changes are present at birth or in early infancy as the first manifestation. We present four patients with lipoid proteinosis involving skin, oropharynx and larynx.
authors.affiliation: Otorhinolaryngology Department, Ankara Numune Hospital, Cemal Gursel Cad. No. 44/A, Kurtuluş, Ankara, Turkey. acara66@yahoo.com
authors.forename: Aydin
authors.initials: A
authors.lastname: Acar
authors.forename: Adil
authors.initials: A
authors.lastname: Eryilmaz
authors.forename: Celil
authors.initials: C
authors.lastname: Gocer
authors.forename: Halit
authors.initials: H
authors.lastname: Akmansu
authors.forename: Hakan
authors.initials: H
authors.lastname: Korkmaz
mesh_terms: D000293:Adolescent; D002648:Child; D003937:Diagnosis, Differential; D005192:Family Health; D005260:Female; D006801:Humans; D007830:Larynx / Q000473:pathology*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D008297:Male; D009960:Oropharynx / Q000473:pathology; D012867:Skin / Q000473:pathology