喉部类脂蛋白沉积症：婴幼儿声音改变的一个原因。

Lipoid proteinosis of the larynx: a cause of voice change in the infant and young child.

作者信息

Savage M M, Crockett D M, McCabe B F

机构信息

Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City 52242.

出版信息

Int J Pediatr Otorhinolaryngol. 1988 Feb;15(1):33-8. doi: 10.1016/0165-5876(88)90048-1.

DOI:10.1016/0165-5876(88)90048-1

PMID:3372140

Abstract

Lipoid proteinosis is an autosomal recessive disorder that may display multiple systemic manifestations involving mucosal deposition of hyalin material. Skin and upper aerodigestive tract mucosal involvement predominate. In approximately two thirds of cases, voice change secondary to laryngeal involvement occurring at birth or early in infancy is the first manifestation of the disease.

摘要

类脂蛋白沉积症是一种常染色体隐性疾病，可表现出多种全身症状，包括透明物质在黏膜沉积。皮肤和上呼吸道消化道黏膜受累较为常见。约三分之二的病例中，出生时或婴儿早期因喉部受累导致的声音改变是该病的首发症状。