Birt Hogg Dube syndrome: Rare family lung disease

Tuberk Toraks. 2021 Mar;69(1):102-106. doi: 10.5578/tt.20219913.ABSTRACTBirt 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.PMID:33853312 | DOI:10.5578/tt.20219913
Source: Tuberkuloz ve Toraks - Category: Respiratory Medicine Authors: Source Type: research