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Lipoid proteinosis

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Author(s): Rao Roopa | Betkerur Sunita | Babu Chaitanya | Sudha V

Journal: Journal of Oral and Maxillofacial Pathology
ISSN 0973-029X

Volume: 13;
Issue: 2;
Start page: 81;
Date: 2009;
Original page

Keywords: Acneiform scars | eyelid beading | hoarseness of voice | hyaline material | yellowish papules

ABSTRACT
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.
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Tangokurs Rapperswil-Jona