{Reference Type}: Case Reports
{Title}: A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant.
{Author}: Hidaka K;Inai T;Kosho T;Yamaguchi T;Kawabata Y;Inai Y;Imamura S;Sanada S;
{Journal}: Respir Med Case Rep
{Volume}: 44
{Issue}: 0
{Year}: 2023
暂无{DOI}: 10.1016/j.rmcr.2023.101870
{Abstract}: Pleuroparenchymal fibroelastosis is a recently recognized clinical entity characterized by interstitial pneumonia with proliferating elastin in the upper lung regions. Pleuroparenchymal fibroelastosis is categorized as idiopathic or reported depending on the coexistent initiating factors; however, congenital contractural arachnodactyly, which is caused by abnormal production of elastin based on a mutation in the fibrillin-2 gene, is rarely reported with lung lesion resembling pleuroparenchymal fibroelastosis. We present a case of pleuroparenchymal fibroelastosis in a patient with a novel mutation in the fibrillin-2 gene, which encodes the prenatal fibrillin-2 protein as a scaffold for elastin.