Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1

Abstract

Neurofibromatosis type 1 (NF1) is a genetic disorder affecting the skin, nervous system, eyes and bones. Pulmonary involvement is unknown to many physicians. Yet, patients may be affected by lung bullae and cysts, which represent an increased risk for secondary spontaneous pneumothorax (SSP). We present a 56-year-old patient with a pathogenic variant of the NF1 gene, who suffered from NF1 with lung manifestations and recurrent SSP. It is essential to identify the patients having an increased risk of developing SSP as preventive surgery seem to decrease the risk of new events. Pneumothorax can be a clinical manifestation of NF1 but is not yet widely acknowledged as such.

Spontaneous primary pneumothorax as a complication of neurofibromatosis type 1

“…Centrilobular nodules and parenchymal cysts are apical, with some subpleural cysts imitating paraseptal emphysema. In advanced NF1 lesions cluster, potentially misdiagnosing centrilobular emphysema [5][6][7] . Diffuse cystic disease can cause chronic respiratory failure and more catastrophic complications such as SSP or PH due to hypoxaemia, like the case presented.…”

High-Resolution Computed Tomography of Cystic Lung Disease

“…Spontaneous pneumothorax related to NF1 has been described in several studies. 118 In the past, smoking was a suspected etiology for some of lung changes in NF1, but more recent work indicates that pulmonary involvement is not associated with smoking and may be asymptomatic. In one study, 100% (6/6) nonsmokers with NF1 had thin-walled, small (2-18 mm) lung cysts as well as GGO and centrilobular micronodules.…”

Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype–phenotype correlations

“…The seemingly intuitive association of NF1 and spontaneous pneumothorax, given the inherent risk of cystic and bullous disease in NF1, is, however, not widely recognised among clinicians. There are very few reports pointing out this risk, with phenotypes ranging from mild clinical features restricted to café-au-lait macules to more severe presentations 3–10. One report, published in this journal in 2021, was the first to describe a case of spontaneous pneumothorax in a patient with a known neurofibromin ( NF1 ) gene mutation 3.…”

“…There are very few reports pointing out this risk, with phenotypes ranging from mild clinical features restricted to café-au-lait macules to more severe presentations 3–10. One report, published in this journal in 2021, was the first to describe a case of spontaneous pneumothorax in a patient with a known neurofibromin ( NF1 ) gene mutation 3. The patient was a 56-year-old man with several incidents of spontaneous pneumothorax.…”