Esophageal Aperistalsis in a Patient with Lipoid Proteinosis

• Main Authors: Behrooz Afshar, Anahita Sadeghi, Mohammad Amani, Ali Ali Asgari
• Format: Article
• Language: English
• Published: Iranian Association of Gastroenterology and Hepatology, Shiraz University of Medical Sciences 2018-01-01
• Series: Middle East Journal of Digestive Diseases
• Subjects: Acneiform scars; Eyelid beading; Hoarseness of voice; Hyaline material; Dysphagia
• Online Access: http://www.mejdd.org/index.php/mejdd/article/view/1927

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 34 year-old woman presented with hoarseness, dysphagia, eyelid beeding, and acneiform scars on the facial skin and extremities. The patient was diagnosed clinically as having lipoid proteinosis, which was confirmed by laryngeal biopsy. The objective of the present report is to describe this rare entity. This case report also illustrates that lipoid proteinosis may show protean clinical features and yet may remain undiagnosed for many years.