Neurofibromatosis-associated diffuse lung disease: case report

Since the initial report in 1963 several small case series described an association between neurofibromatosis (NF) and interstitial lung disease. To date, more than 60 cases of interstitial lung disease associated with NF have been reported, but relatively few reports included high-resolution computed tomographic (HRCT) scans. Typical findings on HRCT include upper lobe predominant cystic and bullous disease, ground-glass opacification, and basilar reticular abnormalities. We present the case of a 34-year-old male smoker with NF and HRCT findings of diffuse lung disease including bullous emphysema, thin-walled cysts, and diffuse ground glass. Although NF-associated diffuse lung disease (NF-DLD) is disputed as a clinical entity by some, the case presented here adds to the accumulating evidence that NF-DLD is a distinct manifestation of neurofibromatosis.