Lipoid proteinosis of larynx: review of four cases.
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.
Acar
Aydin
A
Otorhinolaryngology Department, Ankara Numune Hospital, Cemal Gursel Cad. No. 44/A, Kurtuluş, Ankara, Turkey. acara66@yahoo.com
Eryilmaz
Adil
A
Gocer
Celil
C
Akmansu
Halit
H
Korkmaz
Hakan
H
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