Bullous lung disease and neurofibromatosis type-1
E Nardecchia1, L Perfetti, M Castiglioni
1Department of Surgical and Morphological Sciences, Thoracic Surgery Unit, Varese University Hospital, University of Insubria, Varese, Italy.
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.
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