Article

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

Department of Medicine, University of California, San Francisco, San Francisco, California, United States
European Respiratory Journal (Impact Factor: 7.13). 02/2007; 29(1):210-4. DOI: 10.1183/09031936.06.00044006
Source: PubMed

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 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.

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    • "She reported no history of environmental or occupational exposure to other potential carcinogens for lung cancer. However, as part of her thorough followup, she underwent a low-dose HRCT of the lungs to investigate any occult interstitial lung abnormalities and presence of lung cysts that have been described in neurofibromatosis patients [1]. HRCT of the lungs detected an incidental ill-defined solitary pulmonary nodule 1.4 cm in diameter, exhibiting a ground-glass opacity and air alveologram (Figure 2). "
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    ABSTRACT: Lung cancer associated with neurofibromatosis type I is considered very rare, and only a few case reports have been described in the literature. There is some evidence that a genetic linkage between neurofibromatosis and carcinogenesis in the lung may exist. We present a 42-year-old female, lifetime nonsmoker with a known history of neurofibromatosis type I, free of respiratory symptoms, who underwent a low-dose HRCT of the lungs to investigate any occult interstitial lung changes. A solitary ill-defined nodule of a ground-glass opacity was detected incidentally in the middle lobe with no associated lymphadenopathy or metastatic disease. Several thin-walled lung cysts were also seen in the lower lobes. Histological analysis of the nodule after middle lobectomy revealed well-differentiated adenocarcinoma. The patient did not receive systemic chemotherapy or radiotherapy. She was free of disease on 18-month followup.
    02/2013; 2013:869793. DOI:10.1155/2013/869793
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  • Internal Medicine 02/2007; 46(8):527-8. DOI:10.2169/internalmedicine.46.6440 · 0.97 Impact Factor
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