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Case Reports in Medicine
Volume 2014 (2014), Article ID 952038, 4 pages
http://dx.doi.org/10.1155/2014/952038
Case Report

Gastrointestinal Involvement in Lipoid Proteinosis: A Ten-Year Follow-Up of a Brazilian Female Patient

1Gastroenterology Unit, Faculty of Medical Sciences, State University of Campinas (UNICAMP), 13083-887 Campinas, SP, Brazil
2Gastrocenter, State University of Campinas (UNICAMP), 13083-878 Campinas, SP, Brazil
3Department of Radiology, Faculty of Medical Sciences, State University of Campinas (UNICAMP), 13083-887 Campinas, SP, Brazil

Received 5 May 2014; Accepted 9 June 2014; Published 19 June 2014

Academic Editor: Jahn M. Nesland

Copyright © 2014 Juliana Custódio Lima et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Lipoid proteinosis is a rare autosomal recessive disease characterized by the deposition of hyaline material in the skin and internal organs. The main clinical features are hoarseness and typical skin lesions. In this report we describe the endoscopic and radiologic findings in a Brazilian female patient presenting extensive gastrointestinal involvement and the evolution of the detected lesions in ten years of follow-up. Initial upper endoscopy and colonoscopy showed a similar pattern of multiple yellowish nodules throughout the esophagus, stomach, duodenum, and colons. Histological analysis confirmed the diagnosis of lipoid proteinosis. In addition, small bowel follow through demonstrated numerous well defined, round, small filling defects throughout the jejunum. Ten years later, the esophageal lesions remained the same, but none of the previous alterations were detected in the stomach, duodenum, and colons. In conclusion, lipoid proteinosis may affect all gastrointestinal organs with the same pattern of macroscopic and microscopic lesions. Some lesions may regress with increasing age.