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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| Format: | Article |
| Language: | English |
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Elsevier
2025-09-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043325005886 |
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| author | Nouman Aziz, MD Waseem Nabi, MD Sukhrob Makhkamov, DO Ali Usama, MD Yasmine Elsherif, MD Sonu Sahni, MD |
| author_facet | Nouman Aziz, MD Waseem Nabi, MD Sukhrob Makhkamov, DO Ali Usama, MD Yasmine Elsherif, MD Sonu Sahni, MD |
| author_sort | Nouman Aziz, MD |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-4dd34f820a014092bd49fc203f2efbb6 |
| institution | DOAJ |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-4dd34f820a014092bd49fc203f2efbb62025-08-20T03:17:02ZengElsevierRadiology Case Reports1930-04332025-09-012094860486410.1016/j.radcr.2025.06.044Cystic and emphysematous lung disease in neurofibromatosis type 1 – A case reportNouman Aziz, MD0Waseem Nabi, MD1Sukhrob Makhkamov, DO2Ali Usama, MD3Yasmine Elsherif, MD4Sonu Sahni, MD5Department of Medicine, Wyckoff Heights Medical Center, Brooklyn, NY, USA; Corresponding author.Department of Medicine, Wyckoff Heights Medical Center, Brooklyn, NY, USARocky Vista University College of Osteopathic Medicine, 8401 S Chambers Rd, Englewood, CO, 80112 USARocky Vista University College of Osteopathic Medicine, 8401 S Chambers Rd, Englewood, CO, 80112 USADepartment of Medicine, Zayed Military Hospital, Abu Dhabi, UAEDepartment of Medicine, Wyckoff Heights Medical Center, Brooklyn, NY, USANeurofibromatosis 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.http://www.sciencedirect.com/science/article/pii/S1930043325005886Neurofibromatosis type 1NF-DLDCystic lung diseaseEmphysemaAdenocarcinomaCase report |
| spellingShingle | Nouman Aziz, MD Waseem Nabi, MD Sukhrob Makhkamov, DO Ali Usama, MD Yasmine Elsherif, MD Sonu Sahni, MD Cystic and emphysematous lung disease in neurofibromatosis type 1 – A case report Radiology Case Reports Neurofibromatosis type 1 NF-DLD Cystic lung disease Emphysema Adenocarcinoma Case report |
| title | Cystic and emphysematous lung disease in neurofibromatosis type 1 – A case report |
| title_full | Cystic and emphysematous lung disease in neurofibromatosis type 1 – A case report |
| title_fullStr | Cystic and emphysematous lung disease in neurofibromatosis type 1 – A case report |
| title_full_unstemmed | Cystic and emphysematous lung disease in neurofibromatosis type 1 – A case report |
| title_short | Cystic and emphysematous lung disease in neurofibromatosis type 1 – A case report |
| title_sort | cystic and emphysematous lung disease in neurofibromatosis type 1 a case report |
| topic | Neurofibromatosis type 1 NF-DLD Cystic lung disease Emphysema Adenocarcinoma Case report |
| url | http://www.sciencedirect.com/science/article/pii/S1930043325005886 |
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