Neurofibromatosis Associated Diffuse Cystic Lung Disease

Abstract

Neurobromatosis is an autosomal dominant disorder of neuroectodermal and mesenchymal origin, also known as Von Rechlinghausen disorder. It can also occur inherited or sporadically. A mutation of NF1 gene on chromosome 17q11.2 has been recognized as a disease prompter, and the spectrum of clinical phenotype is wide because of gene complexity, size and diversity of exons. In our article we are presenting a case of neurobromatosis associated with diffuse cystic lung disease.