%0 Case Reports
%T A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant.
%A Hidaka K
%A Inai T
%A Kosho T
%A Yamaguchi T
%A Kawabata Y
%A Inai Y
%A Imamura S
%A Sanada S
%J Respir Med Case Rep
%V 44
%N 0
%D 2023
%M 37251355
暂无%R 10.1016/j.rmcr.2023.101870
%X 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.