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Disease Profile

Tracheobronchopathia osteoplastica

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.



US Estimated


Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Tracheobronchopathia osteochondroplastica; Cartilaginous or bony projections into the tracheobronchial lumen; Tracheopathia osteoplastica


Lung Diseases


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]


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]

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.

Medical Terms Other Names
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Percent of people who have these symptoms is not available through HPO
Abnormality of the skeletal system
Skeletal abnormalities
Skeletal anomalies

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Autosomal dominant inheritance
Trouble breathing
Coughing up blood
Hoarse voice
Husky voice

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Recurrent pneumonia


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]


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]


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]

Learn more

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.


  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; https://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.

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