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.