SESSION TYPE: ILD Cases II
PRESENTED ON: Tuesday, October 23, 2012 at 11:15 AM - 12:30 PM
INTRODUCTION: Neurofibromatosis(NF) is a common autosomal dominant neurogenetic disorders that has an effect on neuroectodermal and mesodermal tissues. Neurofibromatosis may also affect the conducting airways and lung parenchyma resulting in pulmonary fibrosis. It occasionally occurs with cystic lung disease but pneumothoraces are extremely rare. We present a case of neurofibromatosis presenting as spontaneous pneumothorax.
CASE PRESENTATION: 39 year old man with no significant past medical history presented to the emergency department with sudden onset of right sided chest pain and dyspnea. He denied any significant family history. The patient had significant smoking history. Physical exam was pertinent for several subcutaneous nodules distributed across his back, chest wall and scalp. He was found to have a right sided pneumothorax on x-ray. A cat scan of the chest was done which revealed centrilobular and paraseptal emphysema. The pneumothorax failed to resolve with chest tube drainage due to persistent bronchopulmonary fistula and he was subsequently taken for video-assisted thoracoscopic surgery and lung biopsy. The pathology showed pulmonary parenchyma with focal fibrosis, alveolar septal thickening and marked dilatation of alveolar spaces consistent with emphysema.
DISCUSSION: NF associated with lung parenchymal disease has been described but its prevalence, and clinical characteristic remain unclear. It has been suggested that smoking may increase the susceptibility of the lungs to early development of emphysema-like changes. The most common radiological findings of NF are parenchymal presence of cysts and/or bullae, which is also detected in smokers or former smokers. There is a biological rational for a possible relationship between NF and lung disease; Patchefsky et al suggested that pulmonary parenchymal disease in NF is likely attributed to a mesenchymal defect, resulting in primary deposition of collagen. Exposure of bronchial epithelial cells to cigarettes causes a release of cytokines, which may be involved with lung tissue remodeling causing the distinct pathologic features seen in COPD, including subepithelial fibrosis and increased collagen deposition.
CONCLUSIONS: Patients with NF presenting with pneumothorax has rarely been reported in the literature. Although rare, this should remain in our broad differential of spontaneous pneumothorax.
1) Patchefsky AS, Atkinson WG, Hoch WS, Gordon G, Lipshitz HI. Interstitial pulmonary fibrosis and von recklinghausen disease. An ultrastructural and immunofluorescent study. Chest 1973; 64: 459-464
2) Zamora AM. Neurofibromatosis-associated lung disease: a case series and literature review. Eur. Respir J 2007; 29: 210-214
DISCLOSURE: The following authors have nothing to disclose: Pooja Raju, Adebanke Davis, Evgeny Pinelis, He Wang, Keith Guevarra
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