Şimşek Ş.M.Savaş R.Temiz P.Çelik P.2024-07-222024-07-22202104941373http://akademikarsiv.cbu.edu.tr:4000/handle/123456789/13640Birt Hogg Dube syndrome is a rare disease characterized by autosomal dominant inherited multiple cysts in the lungs, renal tumors and skin fibrofollicu-lomas. 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. © 2021 by Tuberculosis and Thorax.EnglishAll Open Access; Gold Open AccessAdultBirt-Hogg-Dube SyndromeDiagnosis, DifferentialHumansMaleRare Diseasesabnormal respiratory soundadultArticleautosomal dominant inheritanceBirt Hogg Dube syndromecase reportclinical articlecomputer assisted tomographydifferential diagnosisechographyfemalegene mutationgenetic disorderhumanlobectomylung adenocarcinomalung cystlung embolismmalepneumothoraxrare diseasethoracostomythorax radiographyBirt Hogg Dube syndromecomplicationgeneticsrare diseaseArticle10.5578/tt.20219913