Semin Respir Crit Care Med 2012; 33(05): 572-576
DOI: 10.1055/s-0032-1325165
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Neurofibromatosis-Associated Diffuse Lung Disease: Case Report

Michael Y. Shino
1   Division of Pulmonary and Critical Care Medicine, Department of Medicine, The David Geffen School of Medicine at UCLA, Los Angeles, California
,
Shehrzad Rabbani
2   Department of Radiology, The David Geffen School of Medicine at UCLA, Los Angeles, California
,
John A. Belperio
1   Division of Pulmonary and Critical Care Medicine, Department of Medicine, The David Geffen School of Medicine at UCLA, Los Angeles, California
,
Joseph P. Lynch III
1   Division of Pulmonary and Critical Care Medicine, Department of Medicine, The David Geffen School of Medicine at UCLA, Los Angeles, California
,
S. Samuel Weigt
1   Division of Pulmonary and Critical Care Medicine, Department of Medicine, The David Geffen School of Medicine at UCLA, Los Angeles, California
› Author Affiliations
Further Information

Publication History

Publication Date:
21 September 2012 (online)

Abstract

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.

 
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