Mainali S, Nayak R, Gaur S
Department of Pedodontics and Preventive Dentistry, MCODS - affiliated to Manipal University, Manipal, India.
J Indian Soc Pedod Prev Dent. 2011 Jan-Mar;29(1):62-7. doi: 10.4103/0970-4388.79946.
Lipoid proteinosis, a very rare autosomal recessive genodermatosis, results in hyaline material deposition in the skin and mucous membrane of various organs leading to multisystem involvement. A case report of a 12-year-old female child is presented here who showed classic features of the disease with generalized thickening, hardening, and scarring of the skin and vocal cord infiltration causing voice changes. The patient also had numerous oral mucosal and dental findings. The knowledge of the clinical features of the disease may help the oral health professional in rendering the appropriate treatment in order to improve the quality of life deteriorated by the disease.
类脂蛋白沉积症是一种极为罕见的常染色体隐性遗传性皮肤病,会导致透明物质沉积于各个器官的皮肤和黏膜,进而引发多系统受累。本文报告了一例12岁女童病例,该患儿呈现出该病的典型特征,包括皮肤普遍增厚、硬化及瘢痕形成,声带浸润导致声音改变。患者还存在众多口腔黏膜和牙齿方面的问题。了解该疾病的临床特征有助于口腔健康专业人员进行恰当治疗,以改善因该病而恶化的生活质量。