Esophageal Aperistalsis in a Patient with Lipoid Proteinosis

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 34-year-old female presented with hoarseness of voice, dysphagia, eyelid beading, and acneiform scars on the facial skin and extremities. The patient was diagnosed clinically as a case of Lipoid proteinosis, which was confirmed by laryngeal biopsy. The objective of the present work 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.