Pulmonary manifestations of neurofibromatosis type 1: A literature review

Introduction/Aim: Neurofibromatosis type 1 is an autosomal dominant disorder whose pulmonary manifestations remain underrecognized in clinical practice. Previous reviews have focused on diffuse lung disease and pulmonary arterial hypertension, without addressing the broader spectrum of complications or explaining the relationship between diffuse lung disease and tobacco smoking. The aim of this review is to synthesize the literature, identify opposing viewpoints, and formulate recommendations for clinical practice. Methods: PubMed and Google Scholar databases were searched for the period 2016-2026. Cohort studies, literature reviews, and case reports were included and analyzed according to methodological rigor and clinical relevance. Results: Six clinical categories of pulmonary manifestations of neurofibromatosis type 1 were identified. Diffuse lung disease occurs in 10-20% of adult patients and has been confirmed as a primary genetic entity that smoking modifies but does not cause. Pulmonary arterial hypertension carries a five-year survival rate below 50% and a limited response to standard therapy. Spontaneous pneumothorax is underrecognized as an initial manifestation of the disease. Intrathoracic meningoceles, vascular complications, and neurofibromas with malignant transformation complete the spectrum of manifestations that previous reviews have not systematically addressed. Conclusion: Pulmonary manifestations of neurofibromatosis type 1 are prognostically more significant than traditionally described. Routine evaluation using multidetector computed tomography of the lungs, spirometry, measurement of pulmonary diffusing capacity, and echocardiography is recommended. A multidisciplinary approach is essential for timely diagnosis and treatment of these patients.