Urbach-Wiethe disease

Urbach-Wiethe disease is a very rare autosomal recessive genetic disorder, with roughly four hundred cases reported since its discovery, caused by loss-of-function mutations in the ECM1 gene on chromosome 1, which encodes extracellular matrix protein 1. Because the disorder is recessive, it appears only in people who inherit a mutated copy of the gene from both parents. It chiefly affects the skin and mucous membranes, producing early signs such as a hoarse voice in infancy along with dry, thickened, wrinkly skin and small beaded papules around the eyelids. In about half to three-quarters of cases, calcium deposits also form in the brain, particularly in the amygdala, a change that has been linked in research to altered fear processing and memory. The condition is coded E78.8 in the ICD-10. It was first formally reported in 1929 by the dermatologists Erich Urbach and Camillo Wiethe, though a possible earlier case may have been described in 1908 by Friedrich Siebenmann.