Neurofibromatosis 1-associated diffuse lung disease in an elderly man—a case report

Abstract

Abstract Background Neurofibromatosis 1 is a form of phacomatosis or neurocutaneous disease inherited as an autosomal dominant disease. Thoracic involvement is rare and involves the lung parenchyma, mediastinum, and thoracic cage, including ribs and the spine. Lung parenchymal involvement includes airspace abnormalities like cysts, bullae, and emphysema with an upper lobe predominance and interstitial abnormality in the form of reticulations and fibrosis in the lower lobes. The structural abnormality of the lung resembles numerous other diseases. Hence, properly identifying and recognizing neurofibromatosis 1-associated diffuse lung disease (NF-1 DLD) is crucial in avoiding misdiagnosis. NF1-DLD is associated with many complications like pulmonary hypertension, lung malignancy, aspergilloma, secondary bacterial infections, and pneumothorax. Case presentation An elderly male with neurofibromatosis type-1 presented with breathlessness, cough, and mucopurulent expectoration and was found to have diffuse involvement of the lung parenchyma involving cysts, bullae, emphysema, fibrosis, and traction bronchiectasis. He was managed conservatively, controlling infection and optimizing respiratory symptoms. Conclusion Neurofibromatosis-associated diffuse lung disease is a rare disorder. There is no definitive treatment that can reverse the pulmonary lesions. However, early diagnosis will help plan effective preventive measures and avoid complications. We present this case to increase awareness regarding the various pulmonary manifestations of neurofibromatosis.