CHEST 2023 On Demand Pass-Unusual Manifestations of Unusual Diseases

Video Transcription

Video Summary

In this session titled "Unusual Manifestations of Unusual Diseases," three presenters discussed rare cases of lung diseases with unique features. The first presenter discussed a case of a 45-year-old female who presented with multiple lung nodules. After further investigation, it was determined that she had benign metastasizing leiomyoma, a rare condition characterized by the widespread proliferation of smooth muscle cells. The second presenter talked about a case of nodular lung disease in a 67-year-old male. Genetic testing revealed an mTOR mutation, which led to the diagnosis of multifocal macronodular pneumocyte hyperplasia. The final presenter discussed a case of familial pulmonary fibrosis in a 50-year-old female. Genetic testing revealed heterogeneous variants in ABCA3 and ACD genes. These findings contribute to a deeper understanding of the genetic basis of familial pulmonary fibrosis. Overall, these presentations highlight the importance of genetic evaluation in diagnosing and managing rare lung diseases, particularly in cases of familial clustering.

Meta Tag

Category Diffuse Lung Disease

Session ID 4001

Speaker Thomas Bolig

Speaker Fernando Camacho

Speaker John Fanous

Speaker Saud Bin Abdul Sattar

Speaker ZAINAB SHAKIR

Speaker Malsha Walgamage

Track Diffuse Lung Disease

Keywords

Unusual Manifestations of Unusual Diseases

lung diseases

benign metastasizing leiomyoma

mTOR mutation

multifocal macronodular pneumocyte hyperplasia

familial pulmonary fibrosis

genetic evaluation