Volume : V, Issue : I, January - 2015

A RARE CASE REPORT OF LIPOID PROTEINIOSIS

Dr. Swathi Cheruku, Dr. Soumya Vellanki, Dr. Kpa Chandrasekhar

Abstract :

Lipoid proteinosis (Urbach–Wiethe disease and Hyalinosis cutis et mucosae) is a rare, autosomal recessive disorder, characterized by infiltration of PAS positive hyaline material into the skin, oral cavity, larynx and internal organs. The clinical manifestations include hoarseness of voice, beaded papules along the eyelid margins, skin scarring and an inability to protrude the enlarged and thickened tongue. It has been mapped to the chromosome 1q21 and pathogenetic loss of function mutations have been identified in the extracellular matrix protein 1 gene (ECM1). We report a case of 30 yr male presented with seizures to casuality. The patient also had beading of papules around the eyelids, scarring on the skin and verrucous plaques over knees and elbows. A

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Article: Download PDF   DOI : 10.36106/ijar  

Cite This Article:

Dr. Swathi Cheruku, Dr.Soumya Vellanki, Dr. KPA Chandrasekhar A Rare Case Report Of Lipoid Proteiniosis Indian Journal of Applied Research, Vol.5, Issue : 1 January 2015

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