Birt Hogg Dube syndrome is a rare disease characterized by autosomal dominant inherited multiple cysts in the lungs, renal tumors and skin fibrofolliculomas. It was first described in 1977 by Birt et al. In this case report, a patient who was diagnosed with symptoms and his first degree relative is presented. Diseases that should be considered in differential diagnosis are discussed. The diagnosis of this disease is usually made after recurrent pneumothorax. Since it is a genetic disease, the importance of follow-up and screening needs of patients and their relatives is emphasized.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.5578/tt.20219913 | DOI Listing |
Eur Clin Respir J
January 2025
Department of Respiratory Medicine, Odense University Hospital, Odense, Denmark.
Background: Birt-Hogg-Dubé syndrome (BHD), a rare genetic disease characterized by multiple pulmonary cysts, can lead to spontaneous pneumothorax, cutaneous hamartomas, renal cysts, and renal cell cancer. The overall aim of this study was to assess clinical characteristics of patients with BHD-emphasizing on trends in pulmonary function patterns.
Methods: By use of data from electronic patient journals, we conducted a retrospective cohort study on clinical characteristics and pulmonary function tests (PFT) from patients with BHD, who were clinically followed-up in a Danish tertiary referral center for rare and interstitial lung diseases.
BMJ Case Rep
December 2024
Inova Fairfax Hosp, Falls Church, Virginia, USA.
A spontaneous pneumothorax may be the heralding manifestation of diffuse cystic lung disease (DCLD). Historically, these diagnoses were differentiated by unique clinical, radiographic and tissue pathology characteristics. With recent advancements in genomics, several forms of DCLD can now be diagnosed through genetic testing and patients can thereby avoid undergoing an invasive lung biopsy.
View Article and Find Full Text PDFEurasian J Med
August 2024
Department of Pulmonary Medicine, Atatürk University School of Medicine, Erzurum, Türkiye.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!