Cystic and emphysematous lung disease in neurofibromatosis type 1 – A case report
Neurofibromatosis type 1 (NF1) is a genetic disorder associated with an elevated risk of both benign and malignant tumors. In rare cases, it involves the lungs in a condition known as neurofibromatosis-associated diffuse lung disease (NF-DLD), marked by cystic and emphysematous changes even in nonsm...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-09-01
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| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043325005886 |
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| Summary: | Neurofibromatosis type 1 (NF1) is a genetic disorder associated with an elevated risk of both benign and malignant tumors. In rare cases, it involves the lungs in a condition known as neurofibromatosis-associated diffuse lung disease (NF-DLD), marked by cystic and emphysematous changes even in nonsmokers. We report a case of a 53-year-old female with NF1 who presented with progressive chest pain and dyspnea. Imaging revealed a 6.0 × 3.1 cm left posterior chest wall mass with osseous erosion and emphysematous lung changes consistent with NF-DLD. Multidisciplinary management, including surgical resection of the chest wall mass, led to symptom relief and an uneventful recovery. This case underscores the importance of recognizing NF-DLD in NF1 patients with respiratory symptoms and the need for ongoing surveillance for malignancies to ensure early diagnosis and appropriate intervention. |
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| ISSN: | 1930-0433 |