A comprehensive review on lipoid proteinosis with emphasis on ECM1 gene mutation

Publication date: Available online 22 May 2017 Source:Apollo Medicine Author(s): Santosh K. Swain, Mahesh C. Sahu, Matam Kavita The lipoid proteinosis (LP) is a rare autosomal recessive disorder, caused by mutations of extracellular matrix protein 1 gene (ECM1). The ECM1 helps in angiogenesis and connective tissue matrix generation, especially in bone and skin. The ECM1 helps in development of skin and its maintenance whereas in LP auto antibodies are raised against ECM1. Old LP patients revealed with turgid skin infiltration and thickening of general skin with a waxy and yellow colored appearance. With minor injury or stress develops excessive scarring with scars at the sites. Most often cases revealed with typical beaded papules at the eyelids and in certain cases, calcification of the temporal lobes have been observed. Also, laryngeal manifestations occur where hyaline-like material deposited in the mucous membranes of the vocal cords results with a faint or hoarse cry. Herein, we focused on LP and reviewed its epidemiology, clinical presentations, different kinds of treatment options and the progressive understanding of clinical manifestation and its histopathological characters. We have also scientifically elaborated on the various LP cases on ECM1 mutation. LP can be cured by early detection with open novel diagnosis with developing basic and clinical research approaches.
Source: Apollo Medicine - Category: General Medicine Source Type: research