
Birt Hogg Dube syndrome: Rare family lung disease
Author(s) -
Şaban Melih Şimşek,
Recep Savaş,
Peyker Temız,
Pınar Çeli̇k
Publication year - 2021
Publication title -
tuberkuloz ve toraks/tüberküloz ve toraks
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.157
H-Index - 18
ISSN - 0494-1373
DOI - 10.5578/tt.20219913
Subject(s) - birt–hogg–dubé syndrome , medicine , lung , lung disease , dermatology , anatomy , pneumothorax
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.