类脂蛋白沉积症喉部表现与处理

目的 探索类脂蛋白沉积症喉部特征与处理.方法 以持续性声音嘶哑为主要表现的类脂蛋白沉积症患者16例,其中10例于婴儿期发病(4例为出生后即出现).患者还均伴有上眼睑改变,13例于68岁后发现.对患者喉部特征,全身表现,组织病理学特征及喉部治疗策略进行研究.结果 16例患者中有2例为兄妹关系,2例为姐妹关系.15例(93.8%)为重度嘶哑,1例为中度嘶哑;频闪喉镜见声带、杓间区黏膜不规则淡黄色物质沉积、增厚,黏膜波明显减低甚至消失.13例(81.3%)患者伴口腔黏膜改变.所有患者上眼睑边缘均发现半透明串珠形丘疹样改变.14例(87.5%)患者面部及四肢皮肤出现不同程度增厚或瘢痕样改变.眼睑及咽喉部病理示上皮下固有层大量均质粉染物质沉积,过碘酸雪夫反应阳性、刚果红染色阴性.8例重度嘶哑患者(10例次)全麻下行喉显微手术去除沉积物质,术后嗓音均有不同程度改善.结论 喉部黏膜透明样变性物质沉积(最早发生于婴儿期)导致声音嘶哑为类脂蛋白沉积症最常见的症状之一,还可以并发全身其他部位黏膜及皮肤改变.通过显微手术去除声带病变有助于改善发音功能.

Manifestation and treatment of lipoid proteinosis in larynx

Objective To investigate the manifestation,characteristics and treatment of lipoid proteinosis (LP) in larynx.Methods Sixteen cases of LP with hoarseness as the first sign were reported.The onset was in the newborn period in 10 cases.The upper eyelids were infiltrated in all cases,13 of them reported an age of onset older than 6-8 years.The laryngeal behaviors and its treatment,multisystem manifestations,and characteristics of histopathology were evaluated.Results One patient had moderate hoarseness,and the others had severe hoarseness. Videolaryngoscopy revealed thickening of the interarytenoid region and irregularities along the rims and the sudace of the vocal folds due to yellowish papules.Oral tissues showed yellow-white infiltrates in 13 cases (81.3%) .Whitish moniliform papules on the upper eyelids were found in all cases.Pock-like or acneiform scars were particularly evident on the face and the limbs in 14 Cases (87.5%) .Histologically,it was characterized by deposition of hyaline material in the submucosa and dermis of the eyelid or larynx with periodic acid-Schiff-positive and Congo red stainnegafve.Eight patients underwent microlaryngosurgery for the excision of deposits in the vocal folds.The vocal function was significantly improved after surgery.Conclusions One of the most common features of lipoid proteinosis is hoarseness since infancy with laryngeal involvement.LP patients also display skin or mucosa infiltration of multiple systems.Microlaryngosurgical excision of the deposits in the vocal fold could improve the voice.