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

¹ Dept of Medicine, San Francisco General Hospital, and Depts of ² Medicine, and ³ Radiology, University of California San Francisco, San Francisco, CA, USA. ⁴ University Hospital "Dr. Jose Eleuterio González", Monterrey, NL, Mexico.

CORRESPONDENCE: T. E. King, San Francisco General Hospital, 1001 Potrero Avenue, Room 5H22, San Francisco, CA 94110, USA. Fax: 1 4152064890. E-mail: tking{at}medsfgh.ucsf.edu

Keywords: Cystic lung disease, high-resolution computed tomography, interstitial lung disease, neurofibromatosis, pulmonary fibrosis

Received: March 29, 2006
Accepted July 13, 2006

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

A retrospective case series and literature review in a tertiary care academic medical centre is reported in which medical records, chest radiographs and high-resolution computed tomography (HRCT) scans were reviewed.

A total of 55 adult patients with neurofibromatosis were identified, three of whom had NF-DLD. A literature review revealed 16 articles reporting 61 additional cases, yielding a total of 64 NF-DLD cases. The mean age of patients was 50 yrs. Males outnumbered females; most reported dyspnoea. Of the 16 subjects with documented smoking histories, 12 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. A group of 14 patients had surgical biopsy results that showed findings of interstitial fibrosis (100%) and interstitial inflammation (93%).

In conclusion, neurofibromatosis with diffuse lung disease is a definable clinical entity, characterised by upper lobe cystic and bullous disease and lower lobe fibrosis. Its relationship to smoking remains unclear.