Diffuse Lung Disease in Neurofibromatosis

Prevalence, characteristics and the very existence of neurofibromatosis-associated diffuse lung disease remain unclear, mostly because the few studies that looked at pulmonary involvement in such patients used chest X-ray as diagnostic mean. We report on the clinical, functional and HRCT findings in a patient with neurofibromatosis-associated diffuse lung disease and provide a short literature review.