Entry - 189961 - TRACHEOPATHIA OSTEOPLASTICA - OMIM
189961

TRACHEOPATHIA OSTEOPLASTICA


Alternative titles; symbols

TRACHEOBRONCHOPATHIA OSTEOCHONDROPLASTICA


Clinical Synopsis
 

Resp
- Tracheopathia osteoplastica
- Cartilaginous/bony projections into tracheobronchial lumen
- Dyspnea
- Coughing
- Hemoptysis
- Hoarseness
- Wheezing
- Recurrent pneumonia
- Bronchial obstruction
Radiology
- Beaded calcification of tracheobronchial cartilages by CT
Inheritance
- Autosomal dominant

TEXT

Prakash et al. (1989) described a mother and daughter with tracheopathia osteoplastica, also known as tracheobronchopathia osteochondroplastica. This disorder is characterized by cartilaginous or bony projections into the tracheobronchial lumen, with sparing of the posterior membranous portion of the tracheobronchial tree. Symptoms may, however, include dyspnea, coughing, hemoptysis, hoarseness, and wheezing. Tomography of the trachea may show beaded calcification of the tracheobronchial cartilages. Bronchoscopy is diagnostic. Histologically, the abnormal growths show heterotopic bone formation. The mother recorded by Prakash et al. (1989) had recurrent episodes of pneumonia attributable to bronchial obstruction by bony projections. In the daughter, removal of large lesions that obstructed the upper part of the trachea relieved dyspnea. No other reports of familial occurrence were found. Prakash et al. (1989) stated that this abnormality is detected in about 1 in 2,000 bronchoscopies.


REFERENCES

  1. Prakash, U. B. S., McCullough, A. E., Edell, E. S., Nienhuis, D. M. Tracheopathia osteoplastica: familial occurrence. Mayo Clin. Proc. 64: 1091-1096, 1989. [PubMed: 2509829, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 1/10/1990
mimadm : 5/10/1995
supermim : 3/16/1992
supermim : 3/20/1990
supermim : 1/11/1990
supermim : 1/10/1990

189961

TRACHEOPATHIA OSTEOPLASTICA


Alternative titles; symbols

TRACHEOBRONCHOPATHIA OSTEOCHONDROPLASTICA


SNOMEDCT: 37615000, 54675009;   ORPHA: 3348;  



TEXT

Prakash et al. (1989) described a mother and daughter with tracheopathia osteoplastica, also known as tracheobronchopathia osteochondroplastica. This disorder is characterized by cartilaginous or bony projections into the tracheobronchial lumen, with sparing of the posterior membranous portion of the tracheobronchial tree. Symptoms may, however, include dyspnea, coughing, hemoptysis, hoarseness, and wheezing. Tomography of the trachea may show beaded calcification of the tracheobronchial cartilages. Bronchoscopy is diagnostic. Histologically, the abnormal growths show heterotopic bone formation. The mother recorded by Prakash et al. (1989) had recurrent episodes of pneumonia attributable to bronchial obstruction by bony projections. In the daughter, removal of large lesions that obstructed the upper part of the trachea relieved dyspnea. No other reports of familial occurrence were found. Prakash et al. (1989) stated that this abnormality is detected in about 1 in 2,000 bronchoscopies.


REFERENCES

  1. Prakash, U. B. S., McCullough, A. E., Edell, E. S., Nienhuis, D. M. Tracheopathia osteoplastica: familial occurrence. Mayo Clin. Proc. 64: 1091-1096, 1989. [PubMed: 2509829] [Full Text: https://doi.org/10.1016/s0025-6196(12)64978-7]


Creation Date:
Victor A. McKusick : 1/10/1990

Edit History:
mimadm : 5/10/1995
supermim : 3/16/1992
supermim : 3/20/1990
supermim : 1/11/1990
supermim : 1/10/1990