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Case Report

Lipoid Proteinosis: A Case Report

Year : 2014 | Volume : 2 | Issue : 1 Page : 33-36

Ismail Zabeehullah Md, Vempalli1, Ravikanth Lakkepuram2, Sunil Sakinala3

1Assistant Professor, Department of ENT, 2Associate Professor, Department of ENT, 3Postgraduate student, Department of ENT, Prathima Institute of Medical Sciences, Karimnagar, Andhra Pradesh, India.

Address for correspondence : Dr. Ismail Zabeehullah V Md., Assistant Professor, Department of ENT, Prathima Institute of Medical Sciences, Karimnagar, Andhra Pradesh, India.

Email: ismailgenius@yahoo.com

Abstract

Introduction: Lipoid proteinosis is a very rare genetic disorder with autosomal recessive inheritance characterized by the deposition of an amorphous hyaline material in the skin, mucosa and viscera. The classic manifestation is onset in infancy with a hoarse cry due to laryngeal infiltration. The infiltration progresses to skin and mucosa in a slowly progressive course. We present here a 12 year old male child who was brought to the ENT department with complaints of hoarseness of voice, red, raised swelling over the tongue and yellow white papules over the oral cavity and oropharynx. The vocal cords and arytenoids were edematous on videolaryngoscopy. The patient also had beading of papules around the eyelids, scarring on the skin and verrucous plaques over knees and elbows. A biopsy was taken from tongue and skin and sent for histopathology and the report confirms as a case of lipoid proteinosis.

Key words: Lipoid Proteinosis, moniliform blepharosis, verrucous plaques

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