CTICasesNeurofibromatosis Type 1 (NF1) with Extensive Cystic Lung Disease and Emphysema
[...]. Neurofibromatosis Type 1 (NF1) with Extensive Cystic Lung Disease and Emphysema. CTICases. Published October 14, 2016. https://str-case-explorer.pages.dev/c/8tp2x
Imaging findings
CT showed severe paraseptal emphysema and striking subpleural cystic changes. Associated findings included small, probable neurofibromas in the intercostal spaces and phrenic nerve regions. The patient also had multiple skin lesions (neurofibromas).
Key takeaways
Neurofibromatosis Type 1 (NF1) can manifest as extensive cystic lung disease and emphysema, often with a striking subpleural and paraseptal distribution. Associated neurofibromas of peripheral nerves (e.g., phrenic, intercostal) should prompt consideration of this diagnosis, especially when other causes of cystic lung disease are absent.
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