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A Novel Mutation as a Rare Cause of Pneumothorax in a Soldier.
Mil Med
June 2024
Outpatient Clinic, Aberdeen Veterinary Treatment Facility, Aberdeen, MD 2100, USA.
Article Synopsis
- - Birt-Hogg-Dubé (BHD) syndrome is a rare genetic condition caused by a mutation in the folliculin gene (FLCN), leading to issues like spontaneous pneumothorax, cystic lung disease, and certain skin lesions.
- - Patients with BHD typically experience recurrent pneumothorax and lung cysts, with a significant number likely to develop renal tumors; the presence of fibrofolliculomas is a distinctive feature of the syndrome.
- - Diagnosis often takes years due to its rarity, which can delay necessary screenings for renal cancer; the case presented involves a unique mutation in the FLCN gene linked to pneumothorax in a soldier.
A Rare Case of Idiopathic Pleuro-Parenchymal Fibroelastosis Presenting With Bilateral Spontaneous Pneumothoraces.
Cureus
March 2024
Internal Medicine, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, GBR.
Pleuroparenchymal fibroelastosis (PPFE) is a rare interstitial lung disease (ILD), characterized by predominantly upper lobe pleural and subjacent sub-pleural parenchymal fibrosis. Its name refers to a combination of fibrosis involving the visceral pleura with fibroelastotic changes, predominantly in the subpleural lung parenchyma. We describe the case of a 67-year-old lady who presented to the accident and emergency department of Weston General Hospital with worsening shortness of breath (SOB) and cachexia of six to eight months' duration.
View Article and Find Full Text PDFPop Goes the Lung: Bilateral Pneumothoraces Due to Delayed Pneumatocele Rupture in Coronavirus Disease 2019 (COVID-19).
Cureus
January 2024
Pulmonary Medicine, Community Memorial Hospital, Ventura, USA.
Worldwide medical and scientific communities are focusing on further understanding coronavirus disease 2019 (COVID-19) complications and its long-term impact on survivors. Pneumatocele cases are being reported more as a consequence of this virus and a cause of pneumothorax in certain patients. In this case vignette, we present a previously healthy male with COVID-19 symptoms who required hospitalization for hypoxia and who required readmission for bilateral pneumothorax from the delayed rupture of pneumatoceles.
View Article and Find Full Text PDFFolliculin gene-negative Birt-Hogg-Dube syndrome: a case report.
Ann Med Surg (Lond)
February 2024
Department of Internships, Ministry of Health, Nablus.
Introduction And Importance: Birt-Hogg-Dube (BHD) is a rare genetic disorder that results from a mutation in the folliculin (FLCN) gene. Manifestations include pulmonary cysts, fibrofolliculomas, renal tumors, and pneumothoraces. Genetic testing can be used to confirm the diagnosis when suspected.
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