Isolated pulmonary involvement in Erdheim-Chester disease

Erdheim-Chester disease is a rare non-Langerhans cell histiocytic disorder. It is primarily a disease of the long bones. Pulmonary involvement in systemic disease is detected in about half the reported cases. Isolated lung involvement is extremely rare with no clear recommendations for treatment. A 52-year-old caucasian male was evaluated for 1.9 cm × 1.6 cm spiculated nodule in the right upper lobe. Pulmonary function testing and bronchoscopy with endobronchial ultrasound, transbronchial biopsy, and microbiology were inconclusive. Positron emission tomography-computed tomography (PET-CT) was significant for the avidity in same lung nodule along with mediastinal and hilar adenopathy but no bone involvement. Wedge resection with histopathology and immunohistochemistry reported a fibrohistiocytic infiltrate in bronchovascular distribution which was positive for CD68 and negative for CD1A, S100, and BRAF V600E mutation. Magnetic resonance imaging brain ruled out central nervous system involvement. The rarity of the condition along with the complex pathology makes it difficult to diagnose and hence intervene appropriately.