Lipoid proteinosis, also known as Urbach-Wiethe disease (UWD), is an autosomal recessive disorder caused by mutations leading to loss-of-function or reduced expression of theECM1gene (OMIM 602201, extracellular matrix protein 1).35, 46This results in the intracellular deposition of noncollagenous proteins and glycoproteins in multiple systems. This evidence concerns the gene ECM1 and lipoid proteinosis.