Rao Roopa Shamsundar, Betkerur Sunita S, Babu Chaitanya, Sudha Vm
Department of Oral Pathology, M. S. Ramaiah Dental College, Bangalore, Karnataka, India.
J Oral Maxillofac Pathol. 2009 Jul;13(2):81-4. doi: 10.4103/0973-029X.57675.
Lipoid proteinosis is a rare disorder with autosomal recessive inheritance, characterized by progressive deposition of hyaline material in the skin, mucous membrane, and different organs of the body, resulting in a multitude of clinical manifestations. A 62-year-old male presented with hoarseness of voice since infancy, eyelid beading, and generalized acneiform scars on the facial skin and extremities, and yellowish papules on his tongue and buccal mucose. The patient was diagnosed clinically as a case of Lipoid proteinosis, which was confirmed by skin and mucosal biopsy. The objective of the present work is to describe this rare entity, with approximately 250 cases found in medical literature. This case report also illustrates that Lipoid proteinosis may show protean clinical features and yet may remain undiagnosed for many years. This report will hopefully spawn further studies that will lead to early diagnosis.
类脂蛋白沉积症是一种罕见的常染色体隐性遗传疾病，其特征是透明物质在皮肤、黏膜及身体不同器官中进行性沉积，从而导致多种临床表现。一名62岁男性自婴儿期起就出现声音嘶哑、眼睑串珠样改变、面部皮肤和四肢广泛性痤疮样瘢痕，以及舌部和颊黏膜的黄色丘疹。该患者临床诊断为类脂蛋白沉积症，皮肤和黏膜活检予以证实。本研究的目的是描述这一罕见疾病，医学文献中约有250例相关病例报道。本病例报告还表明，类脂蛋白沉积症可能表现出多种临床特征，且多年来可能一直未被诊断。希望本报告能引发进一步研究，从而实现早期诊断。
