Lipoid proteinosis is a condition that results from the formation of numerous small clumps (deposits) of proteins and other molecules in various tissues throughout the body. These tiny clumps appear in the skin, upper respiratory tract, the moist tissues that line body openings such as the eyelids and the inside of the mouth (mucous membranes), and other areas.

Lipoid proteinosis is caused by mutations in the ECM1 gene. This gene provides instructions for making a protein that is found in most tissues within the extracellular matrix, which is an intricate lattice that forms in the space between cells and provides structural support. The ECM1 protein can attach (bind) to numerous structural proteins to provide strength to tissues. It is also involved in the growth and maturation (differentiation) of cells, including skin cells called keratinocytes. The ECM1 protein may also regulate the formation of blood vessels (angiogenesis).

Lipoid proteinosis is thought to be a rare condition; fewer than 500 cases have been described in the scientific literature. This condition occurs more frequently in certain areas of the world, including Turkey, Iran, and the Northern Cape province of South Africa.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Published Date: July 01, 2016
Published By: National Institutes of Health