Esophageal Aperistalsis in a Patient with Lipoid Proteinosis

• Published in: Middle East journal of digestive diseases Vol. 10; no. 1; pp. 55 - 58
• Main Authors: Afshar, Behrooz, Sadeghi, Anahita, Amani, Mohammad, Ali Asgari, Ali
• Format: Journal Article
• Language: English
• Published: Iran Shiraz University of Medical Sciences 01-01-2018; Iranian Association of Gastroerterology and Hepatology; Iranian Association of Gastroenterology and Hepatology, Shiraz University of Medical Sciences
• Subjects: Acneiform scars; Case Report; Case reports; Dysphagia; Endoscopy; Esophagus; Extracellular matrix; Eyelid beading; Gastroesophageal reflux; Hoarseness of voice; Hyaline material; Larynx; Motility; Mutation; Ostomy; Patients; Proteins; Scars; Skin; Middle East; Istanbul Turkey; South Africa; Turkey; Iran; Dysphagia; Acneiform scars; Eyelid beading; Hyaline material; Hoarseness of voice
• ISSN: 2008-5230; 2008-5249
• DOI: 10.15171/mejdd.2017.92

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.