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Case Reports
. 2009 Jul;13(2):81-4.
doi: 10.4103/0973-029X.57675.

Lipoid proteinosis

Roopa Shamsundar Rao  1 , Sunita S Betkerur, Chaitanya Babu, Vm Sudha
Affiliations
Case Reports

Lipoid proteinosis

Roopa Shamsundar Rao et al. J Oral Maxillofac Pathol. 2009 Jul.

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.

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

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Thickened lingual mucosa with nodular infiltration
Figure 2
Figure 2
Enlarged tongue with irregular pearly white infiltration
Figure 3
Figure 3
Beaded papules on the thickened margins of the eyelids
Figure 4
Figure 4
Multiple brownish warty papules on the dorsum of the hand
Figure 5
Figure 5
H and E stained section showing subepithelial and perivascular hyalinisation under 10×
Figure 6
Figure 6
Oral tissue section stained with Periodic – Acid Schiff reagent shows PAS- positive material around vessels under 40×
Figure 7
Figure 7
Periodic – Acid Schiff stained section of superficial dermis shows deposition of PAS positive material under 40×
See this image and copyright information in PMC

References

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