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 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.