Familial Tracheobronchopathia Osteochondroplastica in Two Mongolian Siblings: A Case Report
Abstract
Abstract Background Tracheobronchopathia osteochondroplastica (TO) is a rare disorder characterized by submucosal cartilaginous or ossified nodules in the tracheobronchial tree. Although chronic inflammation and trauma have been implicated, genetic factors remain unexplored. Case presentation This study enrolled two Mongolian siblings diagnosed with TO. The 38-year-old female patient presented with a 5-year chronic cough and acute onset of high fever and purulent sputum. Imaging examinations revealed bronchiectasis and diffuse tracheal wall calcification. Bronchoscopy showed tracheal mucosal granular hyperplasia, and pathological biopsy confirmed airway chronic inflammation and multifocal interstitial ossification. Her 38-year-old elder brother had a 6-year history of hypertension and one month of intermittent exertional chest tightness and wheezing. Chest CT demonstrated irregular tracheal wall thickening and luminal stenosis. Bronchoscopy detected diffusely distributed fragile airway nodules, and pathological examination verified bronchial mucosal metaplasia and interstitial ossification lesions. Both patients received standardized comprehensive symptomatic treatment including oral moxifloxacin and aerosolized budesonide and terbutaline during hospitalization. Clinical symptoms were significantly relieved after treatment. In follow-up lasting 4–6 months, only intermittent mild respiratory symptoms were observed without severe disease recurrence or adverse events.…
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