Nonidiopathic pleuroparenchymal fibroelastosis with a novel fibrillin-2 gene variant characterized by the expression of prenatal fibrillin-2 antigen and the aberrant proliferation of elastin and reticular fibers: a case report

Abstract

Abstract Pleuroparenchymal fibroelastosis is a recently recognized clinical entity characterized by interstitial pneumonia that has pathological characteristics with proliferating elastin in the upper lung regions. Pleuroparenchymal fibroelastosis is categorized as idiopathic or nonidiopathicdepending on coexistent initiating factors; however, congenital contractural arachnodactyly, which is caused by abnormal production of elastin based on a mutation in the fibrillin-2 gene, rarely reports lung lesion especially features resembling pleuroparenchymal fibroelastosis. We present a case of nonidiopathicpleuroparenchymal 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.