Spontaneous Pneumothorax: A Rare Complication of Neurofibromatosis Type 1 Associated Diffuse Lung Disease

The visually striking neurocutaneous manifestations of neurofibromatosis type 1 (NF1) are well recognized and extensively documented throughout the scientific literature. While not uncommon, the pulmonary manifestations of NF1 are largely unknown to many physicians. NF1-associated diffuse lung disease (NF-DLD) complications include pulmonary hypertension, pulmonary artery stenosis, subpleural cysts, and spontaneous pneumothorax. We present a rare case of a 34-year-old non-smoking male with NF-DLD found incidentally in adolescence with previous apical bleb repair, presenting nearly 20 years later with spontaneous pneumothorax. In NF1 patients with pulmonary complaints, NF-DLD should be assessed with computed tomography (CT), and physicians should be familiar with associated complications. Our case adds to the evidence that NF-DLD is a clinical entity distinct from the effects of smoking.