Neurofibromatosis-associated lung disease: a case series and literature review

¹ the Dept of Medicine, San Francisco General Hospital; and University of California San Francisco, both in San Francisco, CA
² University of California San Francisco, both in San Francisco, CA
³ the Dept of Radiology, University of California San Francisco, San Francisco, CA

^* To whom correspondence should be addressed. E-mail: tking{at}medsfgh.ucsf.edu.

	Abstract

An association of neurofibromatosis with diffuse lung disease (NF-DLD) has been described, but its true prevalence and characteristics remain unclear. The objective of this study is to define diffuse lung disease in patients with neurofibromatosis.

We report a retrospective case series and literature review in a tertiary care academic medical center. Medical records, chest radiographs and high-resolution computed tomography (HRCT) scans were reviewed.

Fifty-five adult patients with neurofibromatosis were identified. Three of these fifty-five patients had NF-DLD. A literature review revealed sixteen articles reporting sixty-one additional cases, yielding a total of 64 cases. The mean age was fifty years. Men outnumbered women; most reported dyspnoea. Twelve of sixteen with documented smoking histories were ever smokers. Eight patients had HRCT scan results demonstrating ground glass opacities (37%), bibasilar reticular opacities (50%), bullae (50%), cysts (25%), and emphysema (25%). None had honeycombing. Fourteen patients had surgical biopsy results which showed findings of interstitial fibrosis (100%) and interstitial inflammation (93%).

In conclusion, NF-DLD is a definable clinical entity. It is characterized by upper lobe cystic and bullous disease and lower lobe fibrosis. Its relationship to smoking remains unclear.