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

ArticleinEuropean Respiratory Journal 29(1):210-4 · February 2007with52 Reads
Impact Factor: 7.64 · DOI: 10.1183/09031936.06.00044006 · Source: PubMed

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.

    • "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). "
    [Show abstract] [Hide abstract] 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.
    Full-text · Article · Feb 2013
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    • "A recent article questioned such association, reporting that the evidence supporting a causative relationship between NF-1 and interstitial diseases is poor, and suggested that the latter are mainly smoking-induced manifestations [15]. However, Zamora et al. proposed that NF-1 in association with ILD represents a distinct clinical entity [1]. The pathogenesis of ILD in patients with NF-1 is uncertain. "
    [Show abstract] [Hide abstract] ABSTRACT: Lung interstitial diseases and bullae are described as possible complications of neurofibromatosis type-1 (NF-1), a genetic disorder inherited as a autosomal-dominant trait. We report the case of a 16-year-old male non-smoker with NF-1, who presented with pneumothorax caused by ruptured lung bullae. The case of this young patient, successfully treated by video-assisted thoracoscopic resection of bullae, supports the concept that pulmonary alterations may be part of the NF-1 syndrome, rather than as an unrelated complication.
    Full-text · Article · Jun 2012 · Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace / Fondazione clinica del lavoro, IRCCS [and] Istituto di clinica tisiologica e malattie apparato respiratorio, Università di Napoli, Secondo ateneo
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    • "The average age and symptoms of ED presentation of our patient correlate with previous papers. Regarding the types of lung lesions detected by radiological examination, Zamora et al. [2] report that chest radiography demonstrates bullous lung disease in 73 % of the cases, almost always in the upper lobes (93 %), and radiographic honeycombing sign in 13 % of the cases. Chest HRCT reveals emphysema (25 %), cyst (25 %), ground-glass abnormality (37 %), bullas (50 %) and reticular abnormalities (50 %). "
    Full-text · Article · Apr 2012 · Internal and Emergency Medicine
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