ArticleRadiology case reports2025
Cystic and emphysematous lung disease in neurofibromatosis type 1 - A case report.
Article in Radiology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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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