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International Journal of Recent Trends in Science and Technology, ISSN 2277-2812 E-ISSN: 2249-8109

Volume 12, Issue 2, September 2014 pp 266-269

Case Report

A rare case report -Lipoid proteinosis with laryngeal and oral manifestations

Poonam Khairnar^1*, S. K. Nagle², Kartik Parelkar³, Shubhangi Kedar⁴, Bandu Nagarale⁵

^{1,3,4,5 Jr.Resident, 2}Associate Professor,Department of Otorhinolaryngology, Government Grant Medical College, JJ Group of Hospitals, Mumbai, Maharashtra, INDIA

Abstract

Introduction: Lipoid proteinosis is a rare autosomal recessive disorder, characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and internal organs. Classical clinical features include skin scarring, beaded eyelid papules, and laryngeal infiltration leading to hoarseness. Usually, the hoarse voice is present at birth or in early infancy, as the first manifestation. In more severe cases, diffuse infiltration of the pharynx and larynx might cause respiratory distress, at times requiring tracheostomy. This paper reports a classical case of lipoid proteinosis with laryngeal and oral manifestations.