Neurofibromatosis-associated lung disease: A case series and literature review
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.
[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.0Comments 1Citation
- "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 . 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 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.0Comments 0Citations
- "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 . However, Zamora et al. proposed that NF-1 in association with ILD represents a distinct clinical entity . The pathogenesis of ILD in patients with NF-1 is uncertain. "
- "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.  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 %). "