Lipoid Proteinosis: A Case Report
Journal Title: Perspectives In Medical Research - Year 2014, Vol 2, Issue 1
Abstract
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 ofhoarseness 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.
Authors and Affiliations
Ismail Zabeehullah
Keywords
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