Tracheopathia osteoplastica: familial occurrence

Tracheopathia osteoplastica is an unusual disease characterized by cartilaginous or bony projections into the tracheobronchial lumen, with sparing of the posterior membranous portion of the tracheobronchial tree. The cause of this disorder is unknown. The diagnosis is seldom made because of the chronic and asymptomatic nature of the condition. More than 90% of the cases are diagnosed at postmortem examination. Symptoms may include dyspnea, coughing, hemoptysis, hoarseness, and wheezing. Tomography of the trachea may reveal beaded calcification of the tracheobronchial cartilages. Bronchoscopy is diagnostic. Histologically, the abnormal growths show heterotopic bone formation. No known treatment is available. We describe two female patients, one with hemoptysis and another with asthmalike symptoms, in both of whom bronchoscopy established the diagnosis of tracheopathia osteoplastica. The first patient had recurrent episodes of pneumonia attributable to bronchial obstruction by bony projections. In the second patient, removal of large lesions that obstructed the upper part of the trachea relieved the dyspnea. Of interest is the fact that the first patient was the biologic mother of the second. To our knowledge, this constitutes the first report of familial occurrence of tracheopathia osteoplastica.