National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Tracheobronchopathia osteoplastica


Other Names:
Tracheobronchopathia osteochondroplastica; Cartilaginous or bony projections into the tracheobronchial lumen; Tracheopathia osteoplastica
Categories:
Tracheobronchopathia osteoplastica (TO) is a rare condition of the large airways. It is characterized by the presence of multiple growths (nodules) made of bone and cartilage tissue, in the submucosa of the tracheobronchial wall. The nodules protrude into the spaces inside the trachea and bronchi, which can lead to airway obstruction. Affected people may have persisting or recurrent respiratory symptoms, and/or recurrent infections. The cause of TO is not currently known. There is no specific treatment to prevent the formation of nodules. Laser therapy or removal of the nodules may be needed in some cases.[1]
Last updated: 9/8/2014
Symptoms of tracheobronchopathia osteoplastica (TO) may be absent or non-specific.[2] Affected people may have various respiratory symptoms such as cough, wheezing, coughing up blood (hemoptysis), and/or recurrent upper airway infections. Stridor and low-pitched wheezing may occur if there is severe airway obstruction. In some cases, obstruction of the lobar bronchi can cause recurrent atelectasis (collapse of the lung) or pneumonia. Nodules seem to remain stable over years, or progress at a very slow rate.[1] It is thought that over 90% of cases are diagnosed incidentally on autopsy.[2] Rapid progression has been reported rarely.[1]
Last updated: 9/8/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the skeletal system
Skeletal abnormalities
Skeletal anomalies
[ more ] 		0000924
Autosomal dominant inheritance 0000006
Cough
Coughing
0012735
Dyspnea
Trouble breathing
0002094
Hemoptysis
Coughing up blood
0002105
Hoarse voice
Hoarseness
Husky voice
[ more ] 		0001609
Recurrent pneumonia 0006532
Wheezing 0030828
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Last updated: 7/1/2020
The underlying cause of tracheobronchopathia osteoplastica (TO) remains unknown.[2][3] Several theories have been proposed, including chronic airway inflammation, exostosis (formation of new bone), and metaplasia (abnormal cell changes) in the affected tissue. Numerous cases have been reported in association with different conditions including allergic rhinitis.[3] However, no theories have been validated.[2] There is no known genetic susceptibility to the development of TO.[1]
Last updated: 9/8/2014
There is no known genetic susceptibility to the development of TO, and it typically occurs in people with no known history of the condition in their family. Familial occurrence has been reported only once, in a woman and her daughter.[1]
Last updated: 9/8/2014
Fiberoptic bronchoscopy is thought to be the best procedure to diagnose tracheobronchopathia osteoplastica (TO).[1] This procedure is done when it is important to see the airways or to get samples of mucus or tissue from the lungs. It involves placing a thin, tube-like instrument through the nose or mouth and down into the lungs.[4] During this procedure a bronchial biopsy is usually performed, but samples are sometimes hard to obtain.[1] TO is usually an incidental finding during fiberoptic bronchoscopy, and is rarely suspected before the procedure is done.[1]
Last updated: 9/8/2014
There is no specific treatment for tracheobronchopathia osteoplastica (TO). Recurrent infections and collapse of the lung are treated conventionally.[3] Inhaled corticosteroids may have some impact on people in early stages of the condition, but whether they may be helpful for people with more advanced disease needs further study.[5] Occasionally, tracheostomy may be needed. Surgical treatment options may be considered when all conservative therapies have been unsuccessful. The long-term outlook (prognosis) for affected people is generally good, but usually depends on the extension and location of the lesions. It has been reported that over 55% of affected people do not have any disease progression following the diagnosis.[3]
Last updated: 9/8/2014

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Tracheobronchopathia osteoplastica. Click on the link to view a sample search on this topic.

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  1. Lazor R, Cordier JF. Tracheobronchopathia osteochondroplastica. Orphanet encyclopedia. June, 2004; https://www.orpha.net/data/patho/GB/uk-TO.pdf. Accessed 9/8/2014.
  2. Natt RS, Helliwell T, McCormick M. Tracheopathia chondro-osteoplastica--an unusual cause of stridor. J Laryngol Otol. September, 2009; 123(9):1039-1041. Accessed 9/8/2014.
  3. Ulasli SS, Kupeli E. Tracheobronchopathia osteochondroplastica: a review of the literature. Clin Respir J. May 27, 2014; Accessed 9/8/2014.
  4. FIBEROPTIC BRONCHOSCOPY. American Thoracic Society. 2014; http://www.thoracic.org/clinical/critical-care/patient-information/icu-devices-and-procedures/fiberoptic-bronchoscopy.php. Accessed 9/8/2014.
  5. Zhu Y. et. al. A clinical study of tracheobronchopathia osteochondroplastica: findings from a large Chinese cohort. PLoS One. July 11, 2014; 9(7):Accessed 9/8/2014.